Genomes and Genes
Summary: A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis.
Publications176 found, 100 shown here
- [Systemic mastocytosis]O Fain
Service de Medecine Interne, Hopital Jean Verdier AP HP, Universite Paris XIII, Bondy
Presse Med 34:681-7. 2005b>Systemic mastocytosis is characterized by abnormal mast cell proliferation in different organs...
- Imatinib mesylate in the treatment of systemic mastocytosis: a phase II trialHelga J Droogendijk
Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
Cancer 107:345-51. 2006..Imatinib mesylate is a potent inhibitor of c-kit receptor tyrosine kinase activity. Therefore, the authors evaluated the efficacy and safety of imatinib mesylate as treatment for patients with systemic mastocytosis.
- Systemic mastocytosis: current classification and novel therapeutic optionsDavid A Barbie
Department of Medical Oncology Hematologic Malignancies at Dana Farber Cancer Institute and Massachusetts General Hospital, Boston, MA 02115, USA
Clin Adv Hematol Oncol 4:768-75. 2006..Novel strategies designed to inhibit the growth of mast cells containing the c-KIT D816V mutations have shown success in vitro and may provide effective targeted therapy for this treatment-refractory disease...
- Relationship between idiopathic hypereosinophilic syndrome, eosinophilic leukemia, and systemic mastocytosisBarbara J Bain
Department of Haematology, St Mary s Hospital Campus, Imperial College Faculty of Medicine, St Mary s Hospital, London, United Kingdom
Am J Hematol 77:82-5. 2004..also been found in patients with hypereosinophilia and atypical bone marrow mast cells but whether this syndrome should be regarded as a variant of eosinophilic leukemia or as a variant of systemic mastocytosis remains to be established.
- Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosisNeil P Shah
Division of Hematology Oncology, The David Geffen School of Medicine at University of California Los Angeles UCLA, CA, USA
Blood 108:286-91. 2006..mutation is inherently resistant to imatinib and, to date, there remains no effective curative therapy for systemic mastocytosis associated with KITD816V...
- Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosisSrdan Verstovsek
Leukemia Department, M D Anderson Cancer Center, Houston, Texas 77030, USA
Clin Cancer Res 14:3906-15. 2008..characterization of Philadelphia chromosome-negative (Ph-) chronic myeloproliferative disorders, such as systemic mastocytosis (SM), has provided a clear rationale for investigating novel targeted therapies...
- Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteriaPeter Valent
Department of Internal Medicine I, Division of Hematology and Hemostaseology, University of Vienna, Wahringer Gurtel 18 20, A 1090, Vienna, Austria
Leuk Res 27:635-41. 2003Aggressive systemic mastocytosis (ASM) is a clonal mast cell disease characterized by progressive growth of neoplastic cells in diverse organs leading to organopathy...
- Immunoreactivity for CD25 in gastrointestinal mucosal mast cells is specific for systemic mastocytosisHejin P Hahn
Department of Pathology, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 31:1669-76. 2007b>Systemic mastocytosis (SM) is characterized by the accumulation of neoplastic mast cells in bone marrow and other organs...
- Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816VChristian Baumgartner
Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
Am J Pathol 175:2416-29. 2009..We examined the expression of pSTAT5 in neoplastic mast cells in systemic mastocytosis and asked whether the disease-related oncoprotein KIT D816V is involved in STAT5 activation...
- Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literatureAnimesh Pardanani
Department of Medicine, Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA
Curr Opin Hematol 17:125-32. 2010b>Systemic mastocytosis is a neoplastic disease of mast cells that often harbors a KIT mutation and involves the bone marrow...
- Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD)Karl Sotlar
Institute of Pathology, University of Munich, Germany
J Pathol 220:586-95. 2010In a substantial number of patients with systemic mastocytosis (SM), an associated clonal haematological non-mast cell lineage disease (AHNMD) is detectable...
- Gastrointestinal involvement and manifestations in systemic mastocytosisHarry Sokol
Department of Gastroenterology and Nutrition, Saint Antoine Hospital, Universite Paris VI, Faculte de Medecine, Assistance Publique Hopitaux de Paris, Paris, France
Inflamm Bowel Dis 16:1247-53. 2010..GI manifestations in mastocytosis are reviewed. Pathogenesis of GI symptoms in systemic mastocytosis and their treatment are critically discussed...
- Immunophenotyping of mast cells: a sensitive and specific diagnostic tool for systemic mastocytosisP L A van Daele
Department of Internal Medicine, Erasmus Medical Centre, University Medical Center Rotterdam, Rotterdam, The Netherlands
Neth J Med 67:142-6. 2009The diagnosis of systemic mastocytosis (SM) is based on a combination of major and minor criteria. Flow cytometric detection of aberrant expression of CD2 and/or CD25 on CD117-positive mast cells is one of the minor criteria used...
- Multimodal therapy for vertebral involvement of systemic mastocytosisAntonio Krüger
Department of Trauma Surgery, Philipps University, Marburg, Germany
Spine (Phila Pa 1976) 34:E626-8. 2009..Case report and clinical discussion...
- Cladribine therapy for systemic mastocytosisHanneke C Kluin-Nelemans
Department of Hematology, University Hospital Groningen, Hanzeplein 1, PO Box 30001, NL 9700 RB Groningen, The Netherlands
Blood 102:4270-6. 2003Patients with systemic mastocytosis (SM) can suffer from disabling symptoms related to mast cell mediator release or mast cell infiltration, requiring mast cell eradication...
- Omalizumab for the treatment of unprovoked anaphylaxis in patients with systemic mastocytosisMelody C Carter
J Allergy Clin Immunol 119:1550-1. 2007
- Systemic mastocytosis associated with chronic idiopathic myelofibrosis: a distinct subtype of systemic mastocytosis associated with a [corrected] clonal hematological non-mast [corrected] cell lineage disorder carrying the activating point mutations KITD8Karl Sotlar
Institute of Pathology, University of Tubingen, Liebermeisterstrasse 8, D 72076 Tubingen, Germany
J Mol Diagn 10:58-66. 2008In approximately 20 to 30% of patients with systemic mastocytosis (SM), an associated clonal hematological nonmast cell lineage disorder (AHNMD) is diagnosed...
- Phase II study of imatinib mesylate as therapy for patients with systemic mastocytosisArturo Vega-Ruiz
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States
Leuk Res 33:1481-4. 2009..within the kinase domain of the transmembrane receptor KIT is found in the great majority of patients with systemic mastocytosis (SM) and is attractive therapeutic target...
- FIP1L1/PDGFR alpha-associated systemic mastocytosisYoshiyuki Yamada
Division of Allergy and Immunology, Gunma Children s Medical Center, Shibukawa, Gunma, Japan yamaday gcmc pref gunma jp
Int Arch Allergy Immunol 152:101-5. 2010..are characterized by clonal hypereosinophilia, multiple organ dysfunctions due to eosinophil infiltration, systemic mastocytosis (SM) and a dramatic response to treatment with imatinib mesylate...
- Systemic mastocytosis: a potential neurologic emergencyG B Boncoraglio
Department of Neurology, Istituto Nazionale Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
Neurology 65:332-3. 2005
- Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxisDavid González de Olano
Allergy Unit, Hospital de Fuenlabrada, Madrid, Spain
J Allergy Clin Immunol 121:519-26. 2008..Venom immunotherapy (VIT) is a safe and effective way to treat patients with Hymenoptera anaphylaxis, but few studies have addressed its usefulness in patients with systemic mastocytosis.
- Systemic mastocytosis: classification, pathogenesis, diagnosis, and treatmentOlga Bunimovich
Department of Dermatology, State University of New York, Buffalo School of Medicine, USA
Cutis 83:29-36. 2009..A gain-of-function mutation in codon 816 of c-kit is frequently present in mast cells of patients with systemic mastocytosis (SM)...
- Interferon treatment for hypereosinophilic syndromes and systemic mastocytosisJ H Butterfield
Divisions of Allergy and Immunology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Acta Haematol 114:26-40. 2005Hypereosinophilic syndromes (HES) and systemic mastocytosis (SMCD) are heterogeneous disorders with clinical symptoms from local and remote effects of excessive proliferation of eosinophils and mast cells, respectively...
- Systemic mastocytosis and bone involvement in a cohort of 75 patientsS Barete
AP HP, Dermatology and Allergy Department, Universite Pierre et Marie Curie, Tenon Hospital, 4 rue Chine, Paris 75020, France
Ann Rheum Dis 69:1838-41. 2010To investigate bone involvement in a large cohort of systemic mastocytosis (SM) patients, and evaluate the efficacy of bisphosphonate therapy. Patients and
- Cytoreductive therapy in 108 adults with systemic mastocytosis: Outcome analysis and response prediction during treatment with interferon-alpha, hydroxyurea, imatinib mesylate or 2-chlorodeoxyadenosineKen H Lim
Divisions of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Am J Hematol 84:790-4. 2009Cytoreductive therapy in systemic mastocytosis (SM) includes several drugs whose individual merit has not been well characterized...
- CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosisTravis J Hollmann
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Surg Pathol 32:139-45. 2008..proportion (up to 30%) of adolescent and adult-onset UP represents cutaneous involvement by underlying systemic mastocytosis (SM)...
- Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignanciesAnimesh Pardanani
Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
Blood 114:3769-72. 2009The prognostic heterogeneity of the World Health Organization category of "systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease" (SM-AHNMD) has not been systematically validated by primary data...
- Systemic mastocytosisPeter Valent
Medical University of Vienna, Austria
Cancer Treat Res 142:399-419. 2008
- Genetic and pharmacologic evidence implicating the p85 alpha, but not p85 beta, regulatory subunit of PI3K and Rac2 GTPase in regulating oncogenic KIT-induced transformation in acute myeloid leukemia and systemic mastocytosisVeerendra Munugalavadla
Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Blood 110:1612-20. 2007Oncogenic activation loop KIT mutations are observed in acute myeloid leukemia (AML) and systemic mastocytosis (SM); however, unlike the KIT juxtamembrane mutants, the activation loop mutants are insensitive to imatinib mesylate...
- Ureteral stones due to systemic mastocytosis: diagnostic and therapeutic characteristicsGerhard J Molderings
Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany
Urol Res 37:227-9. 2009Urolithiasis is expected to cause a considerable complication in patients with systemic mastocytosis. The aim of the present report is to demonstrate that due to pathological activation and irritability of mast cells, special features in ..
- Distinct clonal origins of systemic mastocytosis and associated B-cell lymphomaYoung Kim
Division of Pathology, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010, USA
Leuk Res 31:1749-54. 2007b>Systemic mastocytosis (SM) may rarely be associated with lymphoproliferative disorders. In such cases, the relationship between the neoplastic mast cells and the malignant lymphocytes remains unclear...
- Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patientsLuis Escribano
Centro de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
J Allergy Clin Immunol 124:514-21. 2009Indolent systemic mastocytosis is a group of rare diseases for which reliable predictors of progression and outcome are still lacking.
- Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient?Joseph H Butterfield
Division of Allergic Diseases and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
Am J Clin Pathol 121:264-7. 2004..Bilateral biopsies might be useful for diagnosing early systemic mastocytosis or detecting minimal bone marrow involvement.
- Interest of interferon alpha in systemic mastocytosis. The French experience and review of the literatureJ Simon
Service de médecine Interne néphrologie, centre hospitalier intercommunal de Poissy Saint Germain en Laye, 10, rue Champ Gaillard, 78300 Poissy, France
Pathol Biol (Paris) 52:294-9. 2004b>Systemic mastocytosis (SM) are defined by an abnormal growth and accumulation of mast cells in bone marrow and/or other extracutaneous organs. There is currently no cure for this disease...
- Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challengeH P Horny
Institute of Pathology, University of Lubeck, D 23538 Lubeck, Germany
J Clin Pathol 57:604-8. 2004Although systemic mastocytosis (SM) with an associated clonal haematological non-mast cell lineage disease (SM-AHNMD) is a major subtype of SM, little is known about its frequency among myelogenous neoplasms, and mastocytosis in ..
- Tryptase detection in bone-marrow blood: a new diagnostic tool in systemic mastocytosisJulia Proelss
Department of Dermatology, University of Bonn, Bonn, Germany
J Am Acad Dermatol 56:453-7. 2007..The diagnosis of systemic mastocytosis is substantially based on the histologic examination of bone-marrow biopsy specimens.
- Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activationNami Nakagomi
Department of Surgical Pathology, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan
Lab Invest 87:365-71. 2007Aggressive systemic mastocytosis (ASM) is a very rare form of mast cell neoplasm that does not benefit from conventional chemotherapy...
- CD25 indicates the neoplastic phenotype of mast cells: a novel immunohistochemical marker for the diagnosis of systemic mastocytosis (SM) in routinely processed bone marrow biopsy specimensKarl Sotlar
Institute of Pathology, University of Tubingen, Tubingen, Germany
Am J Surg Pathol 28:1319-25. 2004The diagnosis of systemic mastocytosis (SM) is based primarily on the histologic and immunohistochemical evaluation of a bone marrow trephine biopsy specimen...
- Management of patients with systemic mastocytosis: review of M. D. Anderson Cancer Center experienceBryan Hennessy
Department of Leukemia, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
Am J Hematol 77:209-14. 2004..g., the bone marrow (systemic mastocytosis; SM). This study objective is to evaluate the features and outcome of patients referred to M. D...
- Successful treatment of systemic mastocytosis with high-dose interferon-alfa: long-term follow-up of a caseJoseph H Butterfield
Division of Allergic Diseases and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Leuk Res 29:131-4. 2005Daily treatment of systemic mastocytosis with high-dose interferon-alfa often is not tolerated because of clinical or hematologic side effects...
- The systemic mastocytosis-specific activating cKit mutation D816V can be inhibited by the tyrosine kinase inhibitor AMN107N von Bubnoff
Leukemia 19:1670-1. 2005
- Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease statesJae Wook Lee
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Inchon, Republic of Korea
J Pediatr Hematol Oncol 29:412-5. 2007We report a case of aggressive systemic mastocytosis in a 3-year-old girl, who had undergone treatment for ovarian germ cell tumor during the previous 8 months...
- CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapyAnimesh Pardanani
Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Blood 102:3093-6. 2003..Screening for the FIP1L1-PDGFRA rearrangement and Asp816Val mutation will advance rational therapy decisions in SMCD...
- Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816VCelalettin Ustun
Medical College of Georgia, Department of Medicine, Section of Hematology Oncology, Augusta, GA 30912 3125, USA
Leuk Res 33:735-41. 2009..and molecular remission achieved with combined treatment with chemotherapy and dasatinib in a patient with systemic mastocytosis (SM) and acute myeloid leukemia (AML) with mutant KIT(D816V) expression...
- Fatal bleeding due to a heparin-like anticoagulant in a 37-year-old woman suffering from systemic mastocytosisChristoph Sucker
Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Germany
Clin Appl Thromb Hemost 14:360-4. 2008A 37-year-old female patient with systemic mastocytosis who was admitted with severe unexplained bleeding symptoms is studied...
- Dasatinib therapy for systemic mastocytosis: four casesDuncan Purtill
Eur J Haematol 80:456-8. 2008
- Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factorsKen Hong Lim
Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
Blood 113:5727-36. 2009Clinical phenotype in systemic mastocytosis (SM) is markedly variable, which complicates prognostication and decision making regarding the choice and timing of therapy...
- Systemic mastocytosisCem Akin
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Med 55:419-32. 2004b>Systemic mastocytosis is a clonal disorder of the mast cell and its progenitor...
- The stromal composition of mast cell aggregates in systemic mastocytosisApril Chiu
Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA
Mod Pathol 22:857-65. 2009b>Systemic mastocytosis is a stem cell disorder characterized histologically by the presence of multifocal compact aggregates of mast cells in at least one extracutaneous organ with or without evidence of skin lesions...
- Systemic mastocytosis: current concepts and treatment advancesAyalew Tefferi
Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55902, USA
Curr Hematol Rep 3:197-202. 2004b>Systemic mastocytosis (SM), as opposed to cutaneous-only mastocytosis, implies the presence of neoplastic mast cell infiltration in extracutaneous tissue. Mast cell disease in adults is often systemic and often involves the bone marrow...
- Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutationsVinod A Pullarkat
Division of Hematology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA
Am J Hematol 73:12-7. 2003The majority of patients with systemic mastocytosis with associated clonal, hematological non-mast cell lineage disease (SM-AHNMD) have a myeloid stem cell malignancy including myelodysplastic syndromes (MDS), myelodysplastic/..
- Identification of MCL1 as a novel target in neoplastic mast cells in systemic mastocytosis: inhibition of mast cell survival by MCL1 antisense oligonucleotides and synergism with PKC412Karl J Aichberger
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Austria
Blood 109:3031-41. 2007..Therefore, MCL-1 has been suggested as a potential new therapeutic target. Systemic mastocytosis (SM) is a myeloid neoplasm involving mast cells (MCs) and their progenitors...
- Treatment of adult systemic mastocytosis with interferon-alpha: results of a multicentre phase II trial on 20 patientsPhilippe Casassus
Service d Hematologie Clinique, Hopital Avicenne, Universite Paris Nord, Bobigny, Paris, France
Br J Haematol 119:1090-7. 2002b>Systemic mastocytosis (SM) is characterized by proliferation of mast cells in various organs, which may release a wide variety of mediators, thereby explaining the broad clinical spectrum of disease manifestations...
- Diagnosis and treatment of systemic mastocytosis: state of the artPeter Valent
Department of Internal Medicine I, Division of Haematology, University of Vienna, Austria
Br J Haematol 122:695-717. 2003
- Vesicular monoamine transporter 2 (VMAT2) expression in hematopoietic cells and in patients with systemic mastocytosisMartin Anlauf
Department of Pathology, University of Kiel, Michaelisstr 11, 24105 Kiel, Germany
J Histochem Cytochem 54:201-13. 2006..study, we analyzed their expression in inflammatory and hematopoietic cells and in patients suffering from systemic mastocytosis (SM) and chronic myelogenous leukemia (CML)...
- Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlatesA Tefferi
Divisions of Hematology and Hematopathology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
Leukemia 23:900-4. 2009..DNA sequence analysis to screen for TET2 mutations in bone marrow-derived DNA from 48 patients with systemic mastocytosis (SM), including 42 who met the 2008 WHO (World Health Organization) diagnostic criteria for SM and 6 with ..
- The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemiaSumimasa Nagai
Department of Hematology and Oncology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Bunkyo ku, Tokyo, Japan
Exp Hematol 35:1747-52. 2007b>Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (SM-AHNMD) is a distinct entity that was defined by World Health Organization...
- Systemic mastocytosis associated with acute myeloid leukemia: case report and implications for disease pathogenesisLuis Escribano
Unidad de Mastocytosis, Laboratorio K Frank Austen, Hospital Ramon y Cajal, Madrid, Spain
J Allergy Clin Immunol 114:28-33. 2004....
- FIP1L1/PDGFRA is a molecular marker of chronic eosinophilic leukaemia but not for systemic mastocytosisP Valent
Eur J Clin Invest 37:153-4. 2007
- Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic cloneVinod Pullarkat
Division of Hematology and Hematopoietic Cell Transplantation, Department of Cytogenetics, Division of Pathology, City of Hope Comprehensive Cancer Center, 1500 East Duarte Road, Duarte, CA 91010, United States
Leuk Res 31:261-5. 2007In systemic mastocytosis with associated clonal, hematological non-mast cell lineage disease (SM-AHNMD), mast cell infiltration of the bone marrow coexists with a hematologic neoplasm, usually of myeloid origin...
- Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cellsMarion Gabillot-Carré
CNRS UMR 8147, Universite Rene Descartes Paris V, Hopital Necker, 161 rue de Sevres, 75743 Paris Cedex 15, France
Blood 108:1065-72. 2006..stromal tumors (GISTs), and the kinase domain D816V mutation, which is highly representative of systemic mastocytosis (SM)...
- Effects of AMN107, a novel aminopyrimidine tyrosine kinase inhibitor, on human mast cells bearing wild-type or mutated codon 816 c-kitSrdan Verstovsek
Department of Leukemia, University of Texas M D Anderson Cancer Center, Unit 428, 1515 Holcombe Blvd, Houston, TX 77030, United States
Leuk Res 30:1365-70. 2006Most adults with systemic mastocytosis (SM) carry an activating mutation in the codon 816 of c-kit...
- First case of an AIDS patient with systemic mast cell disease associated with FIP1-positive eosinophilia treated with imatinib mesylate therapySerena Merante
J Clin Oncol 24:e6-7. 2006
- Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatmentCem Akin
Department of Internal Medicine, University of Michigan, 4220 D MSRB 3, Box 0638, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0638, USA
Curr Allergy Asthma Rep 6:282-8. 2006..inclusion of this immunophenotypic abnormality in the World Health Organization's diagnostic criteria for systemic mastocytosis. Aberrant mast cell surface marker expression can be detected in the bone marrow aspirate by flow ..
- Mastocytosis: state of the artHans Peter Horny
Institute of Pathology, Ansbach, Germany
Pathobiology 74:121-32. 2007..2) Systemic mastocytosis (SM) which is commonly diagnosed in adults and includes four major subtypes: (i) indolent SM (ISM, the ..
- STI571 (Glivec) affects histamine release and intracellular pH after alkalinisation in HMC-1560, 816Kristin Löber
Departamento de Farmacologia, Facultad de Veterinaria, 27002 Lugo, Spain
J Cell Biochem 103:865-76. 2008..This work is important since HMC-1(560, 816) cells are reported in 80% of aggressive systemic mastocytosis cases and the understanding of some signalling pathways involved in mast cell response could facilitate ..
- Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigensMatthias Mayerhofer
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria
J Immunol 180:5466-76. 2008..A prototype of an indolent TK-driven neoplasm is indolent systemic mastocytosis. We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic ..
- KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entitiesIrina Maric
Department of Laboratory Medicine, Clinical Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
J Allergy Clin Immunol 120:680-7. 2007The broad and overlapping clinical manifestations of D816V KIT-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia (CEL), coupled with the increase in activated eosinophils and ..
- Not all c-kit mutations can be corrected by imatinibJerzy Lasota
Armed Forces Institute of Pathology, Washington, DC, USA
Lab Invest 87:317. 2007
- Imatinib mesylate in the treatment of hematologic malignanciesPier Paolo Piccaluga
Institute of Haematology and Medical Oncology L and A Seragnoli, S Orsola Malpighi Hospital, University of Bologna, Molecular Pathology Laboratory, Unit of Hematopathology, Via Massarenti, 9 40138 Bologna, Italy
Expert Opin Biol Ther 7:1597-611. 2007..acute lymphoid leukemia, hypereosinophilic syndromes, gastrointestinal stromal tumours and more recently, systemic mastocytosis and other myeloprolipherative disease-carrying platelet-derived growth factor receptor abnormalities...
- Synergistic growth-inhibitory effects of two tyrosine kinase inhibitors, dasatinib and PKC412, on neoplastic mast cells expressing the D816V-mutated oncogenic variant of KITKaroline V Gleixner
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria
Haematologica 92:1451-9. 2007In a majority of all patients with systemic mastocytosis (SM) including those with mast cell leukemia (MCL), neoplastic mast cells (MC) display the D816V-mutated variant of KIT...
- Quantitative profiling of codon 816 KIT mutations can aid in the classification of systemic mast cell diseaseW Zhao
Leukemia 21:1574-6. 2007
- Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusionIdoya Lahortiga
Human Genome Laboratory, Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium
Haematologica 93:49-56. 2008..We report an unusual case of a patient presenting with peripheral basophilia and systemic mastocytosis in whom cytogenetic analysis revealed a t(4;5)(q21.1;q31.3).
- [Mastocytosis in childhood]Joanna Renke
Klinika Pediatrii, Gastroenterologii i Onkologii, Dzieciecej Akademii Medycznej w Gdańsku
Przegl Lek 63:551-3. 2006..It concerns 5,4 caser per 1000 of cured children. The disease has no original treatment. There is a chance that thanks to to popularisation of knowledge of this disease will be more frequently diagnosed and known better...
- [Systemic mastocytosis]Marek Niedoszytko
Klinika Alergologii Katedry Pneumonologii i Alergologii Akademii Medycznej, Gdańsku
Pneumonol Alergol Pol 73:239-44. 2005..The experience of Gdansk Mastocytosis Centre indicates that mastocytosis is a rare and difficult to diagnose disease...
- EXEL-0862, a novel tyrosine kinase inhibitor, induces apoptosis in vitro and ex vivo in human mast cells expressing the KIT D816V mutationJingxuan Pan
The University of Texas M D Anderson Cancer Center, Unit 428, 1515 Holcombe Blvd, Houston, TX 77030, USA
Blood 109:315-22. 2007Gain-of-function mutations of the receptor tyrosine kinase KIT play a key role in the pathogenesis of systemic mastocytosis (SM), gastrointestinal stromal tumors (GISTs), and some cases of acute myeloid leukemia (AML)...
- Identification of a c-kit exon 8 internal tandem duplication in a feline mast cell tumor case and its favorable response to the tyrosine kinase inhibitor imatinib mesylateMayu Isotani
Department of Veterinary Clinical Pathology, Nippon Veterinary and Life Science University, 1 7 1 Kyonan cho, Musashino shi, Tokyo 180 8602, Japan
Vet Immunol Immunopathol 114:168-72. 2006..In the present report, we analyzed the c-kit nucleotide sequence in the case of a cat that showed systemic mastocytosis and mastocytemia...
- Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): detection of FIP1L1/PDGFRalpha, classification by WHO criteria, and response to therapy with imatinibStefan Florian
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090 Vienna, Austria
Leuk Res 30:1201-5. 2006Based on generally accepted criteria and the WHO-classification, a subset of patients with systemic mastocytosis (SM) have (or develop) an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD)...
- Imatinib for systemic mast-cell diseaseA Pardanani
Division of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN, USA
Lancet 362:535-6. 2003..The other two, who did not respond to treatment, were the only patients with the ckit D816V mutation. Our results suggest that imatinib either inhibits the growth-promoting role of wild type ckit, or targets an oncogenic kinase...
- Aggressive systemic mastocytosis mimicking sclerosing cholangitisLaura Marbello
Department of Oncology and Hematology, Niguarda Ca Granda Hospital, Milan, Italy
Haematologica 89:ECR35. 2004..The bone marrow biopsy and the revision of liver biopsy using antitryptase stain diagnosed systemic mastocytosis. Because of the aggressive course of the disease the patient was treated with an acute myeloid leukaemia ..
- Sensitivity of oncogenic KIT mutants to the kinase inhibitors MLN518 and PD180970Amie S Corbin
Oregon Health and Science University Cancer Institute, Portland, OR 97239, USA
Blood 104:3754-7. 2004..KIT occur in gastrointestinal stromal tumors (GISTs), some cases of acute myelogenous leukemia (AML), and systemic mastocytosis (SM)...
- FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophiliaAyalew Tefferi
Haematologica 89:871-3. 2004..separation to study the extent of clonal involvement by both myeloid and lymphoid cells in 3 patients with systemic mastocytosis associated with eosinophilia...
- Imatinib mesylate (STI571) for myeloid malignancies other than CMLGeoffrey W Krystal
Division of Hematology Oncology, Virginia Commonwealth University and McGuire Veterans Affairs Medical Center 111K, 1201 Broad Rock Boulevard, Richmond, VA 23249, USA
Leuk Res 28:S53-9. 2004..potential role in the treatment of Philadelphia chromosome negative chronic myelogenous leukemia, systemic mastocytosis with associated hematologic neoplasms, chronic myelomonocytic leukemia, specific subtypes of acute ..
- FIP1L1-PDGFRalpha in hypereosinophilic syndrome and mastocytosisGary Gilliland
Brigham and Women s Hospital, Boston, MA, USA
Hematol J 5:S133-7. 2004
- Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosisPellegrino Musto
Leuk Res 28:421-2. 2004
- Detection of c-kit point mutation Asp-816 --> Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemiaKarl Sotlar
Institute of Pathology, University of Tubingen, Liebermeisterstrasse 8, D 72076, Tubingen, Germany
Leuk Res 26:979-84. 2002The c-kit mutation Asp-816-->Val is detectable not only in neoplastic mast cells (MCs) in patients with systemic mastocytosis (SM) but also in most associated hematologic non-MC lineage disease (AHNMD)...
- Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasmsYael Zermati
CNRS UMR 8603, Hopital Necker, Universite Rene Descartes, Paris, France
Oncogene 22:660-4. 2003b>Systemic mastocytosis (SM) is a rare disease caused by an abnormal mast cell accumulation in various tissues. Two classes of constitutive activating c-kit mutations are found in SM...
- A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinibCem Akin
Laboratory of Allergic Diseases, National Instititute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Blood 103:3222-5. 2004....
- Clinical, genetic, and therapeutic insights into systemic mast cell diseaseAyalew Tefferi
Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA
Curr Opin Hematol 11:58-64. 2004..Skin-only disease (cutaneous mastocytosis) is infrequent in adults and systemic mastocytosis may be broadly classified as an indolent or aggressive variant based on the absence or presence of ..
- Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VALF Noack
Department of Pathology, University of Luebeck, Ratzeburger Allee 160, Luebeck, 23538, Germany
Leuk Lymphoma 44:313-9. 2003..Recently, it could be shown that systemic mastocytosis (SM) is a clonal disorder often exhibiting mutations of c-kit, a protooncogene encoding the tyrosine ..
- 17-Allylamino-17-demethoxygeldanamycin (17-AAG) is effective in down-regulating mutated, constitutively activated KIT protein in human mast cellsGerard Fumo
National Cancer Institute, Cell and Cancer Biology Branch, 9610 Medical Center Dr, Ste 300, Rockville, MD 20850, USA
Blood 103:1078-84. 2004..These data provide compelling evidence that 17-AAG may be effective in the treatment of c-kit-related diseases including mastocytosis, GISTs, mast cell leukemia, subtypes of acute myelogenous leukemia, and testicular cancer...
- [Treatment of systemic mastocytosis]F Marrache
Fédération de médecine interne, Maladies Infectieuses et Tropicales, Hopital Avicenne, Universite Paris Nord, 125, route de Stalingrad, 93009 Bobigny, France
Rev Med Interne 24:594-601. 2003b>Systemic mastocytosis is a rare disease, characterized by mast cells proliferation in various organs...
- Expression of Bcl-2 and Bcl-xL in cutaneous and bone marrow lesions of mastocytosisKarin Hartmann
Department of Dermatology, University of Cologne, Joseph Stelzmann Strasse 9, 50931 Cologne, Germany
Am J Pathol 163:819-26. 2003..In contrast to the skin lesions, bone marrow infiltrates of patients with systemic mastocytosis showed only low or absent immunoreactivity for bcl-2, but marked expression of bcl-xL...
- Are gastrointestinal mucosal mast cells increased in patients with systemic mastocytosis?Sabine I Siegert
Institute of Pathology, Ludwig Maximilians University, Munich, Germany
Am J Clin Pathol 122:560-5. 2004..and duodenum and statistically significantly decreased in antrum biopsy specimens from patients with systemic mastocytosis compared with patients with pure urticaria pigmentosa and with control subjects...
- Clonality and molecular pathogenesis of mastocytosisCem Akin
University of Michigan, Department of Internal Medicine, Division of Allergy and Immunology, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0638, USA
Acta Haematol 114:61-9. 2005..First, systemic mastocytosis has been found to be associated with activating codon 816 mutations of the c-kit gene...
- Mast cell proliferative disorders: current view on variants recognized by the World Health OrganizationPeter Valent
Department of Internal Medicine 1, Division of Hematology and Hemostaseology, University of Vienna, Wahringer Gurtel 18 20, Vienna, Austria
Hematol Oncol Clin North Am 17:1227-41. 2003..In patients with SM-AHNMD, the SM should be treated as if no AHNMD is present, and the AHNMD should be treated as if no SM had been diagnosed...
- A novel NF-kappaB inhibitor, IMD-0354, suppresses neoplastic proliferation of human mast cells with constitutively activated c-kit receptorsAkane Tanaka
Laboratory of Molecular Pathology and Therapeutics, Division of Animal Life Science, Graduate School, Institute of Symbiotic Science and Technology, Tokyo University of Agriculture and Technology, Fuchu, Tokyo 183 8509, Japan
Blood 105:2324-31. 2005..The observations from the current study suggest a therapeutic potential, in systemic mastocytosis, for compounds that interfere with NF-kappaB signaling.
- Systemic mastocytosis: bone marrow pathology, classification, and current therapiesA Pardanani
Divisions of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Acta Haematol 114:41-51. 2005..The BM pathology, consensus classification, and current therapies for MCD are further discussed in this article...
- Delineation of patterns of bone marrow mast cell infiltration in systemic mastocytosis: value of CD25, correlation with subvariants of the disease, and separation from mast cell hyperplasiaManuela Krokowski
Institute of Pathology, University of Lubeck, Lubeck, Germany
Am J Clin Pathol 124:560-8. 2005In most cases, the diagnosis of systemic mastocytosis (SM) is based on histomorphologic evaluation of the bone marrow. We analyzed mast cell (MC) infiltration patterns in 57 cases of SM and 31 cases of mast cell hyperplasia (MCH)...
- The faces of mast cell disease: bone marrow infiltrates in 3 patients with systemic mastocytosisAntonio E Martinez
The Arkadi M Rywlin MD, Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA
Ann Diagn Pathol 9:81-5. 2005..microscopic heterogeneity, particularly in the bone marrow, the most common site of involvement in systemic mastocytosis (SM)...
- Ph-Chromosome-positive chronic myeloid leukemia with associated bone marrow mastocytosisHermine Agis
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Austria
Leuk Res 29:1227-32. 2005The concurrent development of chronic myeloid (CML) or myelomonocytic (CMML) leukemia in patients with systemic mastocytosis (SM) is a well recognized phenomenon...
- Role of Vav and Rac in KIT oncogenesisReuben Kapur; Fiscal Year: 2011..tumors, gastrointestinal stromal tumors (GISTs), sinonasal lymphomas, acute myeloid leukemia (AML), and systemic mastocytosis (SM). A significant proportion of these diseases commonly bear the KIT activation loop mutation KITD816V...
- Role of Vav and Rac in KIT oncogenesisReuben Kapur; Fiscal Year: 2010..tumors, gastrointestinal stromal tumors (GISTs), sinonasal lymphomas, acute myeloid leukemia (AML), and systemic mastocytosis (SM). A significant proportion of these diseases commonly bear the KIT activation loop mutation KITD816V...
- Role of Vav and Rac in KIT oncogenesisReuben Kapur; Fiscal Year: 2009..tumors, gastrointestinal stromal tumors (GISTs), sinonasal lymphomas, acute myeloid leukemia (AML), and systemic mastocytosis (SM). A significant proportion of these diseases commonly bear the KIT activation loop mutation KITD816V...
- Activating PTPN11 and c-kit Mutations in Myeloproliferative DisorderRebecca Chan; Fiscal Year: 2007..the receptor protein tyrosine kinase for stem cell factor (SCF), in juvenile myelomonocytic leukemia and systemic mastocytosis, respectively...
- PROSTANOID BIOSYNTHESIS IN SYSTEMIC MASTOCYTOSISJohn Oates; Fiscal Year: 2003..research is to examine the biosynthesis of the mast cell mediator, prostaglandin D2, in patients with systemic mastocytosis, and to explore the potential for improvements in the treatment of this disorder...
- BIOCHEMISTRY OF MAST CELL SECRETORY GRANULE ENZYMESLawrence Schwartz; Fiscal Year: 2005..used to assess mast cell involvement in human diseases such as asthma, systemic anaphylaxis and systemic mastocytosis, the biochemical characterization of the enzyme as a heparin-stabilized tetramer resistant to biologic ..
- FTI Biology & Treatment of Myeloproliferative DisordersJason Gotlib; Fiscal Year: 2005..If clinically efficacious, further studies of R115777 in MPDs will be warranted...
- Stress Induces Skin Mast Cell Activation & VasodilationTheoharis Theoharides; Fiscal Year: 2005..They will also help investigate the pathophysiology of skin syndromes exacerbated by stress, such as atopic dermatitis or psoriasis, especially since CRH and CRH receptors have been identified in human skin. ..
- Brain mast cells and Chronic Fatigue SyndromeTheoharis C Theoharides; Fiscal Year: 2010..The proposed research is expected to advance our understanding of how activation of brain mast cells can contribute to inflammation and CFS, as well as to the development of novel and effective treatments. ..
- Restraint stress-induced neurogenic bladder inflammationTheoharis Theoharides; Fiscal Year: 2006..Our findings may be relevant to the pathophysiology of IC and may suggest new therapeutic approaches. ..
- CHARACTERIZATION OF DIFFERENT TYPES OF HUMAN MAST CELLSLawrence Schwartz; Fiscal Year: 2007....
- Mast cells, antidepressants and chronic fatigue syndromeTheoharis Theoharides; Fiscal Year: 2007..Future studies will build on these findings to develop in vitro and in vivo models of CFS and lead to clinical trials with select antidepressants or other molecules that inhibit brain mast cells. ..
- STRESS INDUCED SKIN MAST CELL ACTIVATION & VASODILATIONTheoharis Theoharides; Fiscal Year: 2007..This is an important and under investigated area of skin pathophysiology that has potential applicability to understanding the pathogenesis of skin diseases and screening compounds that may develop into novel and effective treatments. ..
- EVALUATION OF BASOPHIL INVOLVEMENT IN HUMAN DISEASELawrence Schwartz; Fiscal Year: 2001....
- CORTICOTROPIN RELEASING HORMONE INDUCED DURA MAST CELL ATheoharis Theoharides; Fiscal Year: 2001..They may also help explain some key events in the pathophysiology of migraines, the clinical symptoms of which are often precipitated by stress. ..
- CHARACTERIZATION OF DIFFERENT TYPES OF HUMAN MAST CELLSLawrence Schwartz; Fiscal Year: 1993..pathologic conditions, including rheumatoid arthritis, scleroderma, allergic rhinitis, atopic dermatitis, systemic mastocytosis/urticaria pigmentosa, cystic fibrosis, breast and lung solid tumors and AIDS...