mastocytosis

Summary

Summary: A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).

Top Publications

  1. Sant G, Kempuraj D, Marchand J, Theoharides T. The mast cell in interstitial cystitis: role in pathophysiology and pathogenesis. Urology. 2007;69:34-40 pubmed
  2. Sánchez Muñoz L, Teodosio C, Morgado J, Escribano L. Immunophenotypic characterization of bone marrow mast cells in mastocytosis and other mast cell disorders. Methods Cell Biol. 2011;103:333-59 pubmed publisher
    b>Mastocytosis is a term used to designate a heterogeneous group of disorders characterized by an abnormal proliferation and accumulation of mast cells (MCs) in one or multiple tissues including skin, bone marrow (BM), liver, spleen, and ..
  3. Sargur R, Cowley D, Murng S, Wild G, Green K, Shrimpton A, et al. Raised tryptase without anaphylaxis or mastocytosis: heterophilic antibody interference in the serum tryptase assay. Clin Exp Immunol. 2011;163:339-45 pubmed publisher
    Mast cell tryptase (MCT) is a key diagnostic test for mastocytosis and anaphylaxis...
  4. Maintz L, Wardelmann E, Walgenbach K, Fimmers R, Bieber T, Raap U, et al. Neuropeptide blood levels correlate with mast cell load in patients with mastocytosis. Allergy. 2011;66:862-9 pubmed publisher
    b>Mastocytosis is characterized by abnormal growth and accumulation of mast cells (MCs) in different organs. MCs have been shown to express receptors for neuropeptides...
  5. Niedoszytko M, de Monchy J, van Doormaal J, Jassem E, Oude Elberink J. Mastocytosis and insect venom allergy: diagnosis, safety and efficacy of venom immunotherapy. Allergy. 2009;64:1237-45 pubmed publisher
    The most important causative factor for anaphylaxis in mastocytosis are insect stings...
  6. Sperr W, Horny H, Lechner K, Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma. 2000;37:473-86 pubmed
    Patients with systemic mast cell (MC) disease, but not those with cutaneous mastocytosis, are at a high risk (10-30%) to develop life-threatening myelogenous malignancies. In a significant proportion of cases, myeloid leukemias occur...
  7. Akin C, Soto D, Brittain E, Chhabra A, Schwartz L, Caughey G, et al. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. Clin Immunol. 2007;123:268-71 pubmed
    Serum mast cell tryptase levels are used as a diagnostic criterion and surrogate marker of disease severity in mastocytosis. Approximately 29% of the healthy population lacks alpha tryptase genes; however, it is not known whether lack of ..
  8. Wolff K. Treatment of cutaneous mastocytosis. Int Arch Allergy Immunol. 2002;127:156-9 pubmed
    Therapy of cutaneous mastocytosis is directed towards skin and systemic symptoms due to mediator release and targeted on skin lesions...
  9. Castells M. Mastocytosis: classification, diagnosis, and clinical presentation. Allergy Asthma Proc. 2004;25:33-6 pubmed
    b>Mastocytosis comprises several diseases characterized by an abnormal increase in tissue mast cells...

More Information

Publications62

  1. Altintas M, Rossetti M, Nayer B, Puig A, Zagallo P, Ortega L, et al. Apoptosis, mastocytosis, and diminished adipocytokine gene expression accompany reduced epididymal fat mass in long-standing diet-induced obese mice. Lipids Health Dis. 2011;10:198 pubmed publisher
    ..Moreover, gene and/or protein expression of several adipocytokines (leptin, adiponectin, TNF-?, IL-10, IL-6, MCP-1), F4/80, mMCP6, cleaved caspase-3 were determined...
  2. Sánchez Muñoz L, Alvarez Twose I, Garcia Montero A, Teodosio C, Jara Acevedo M, Pedreira C, et al. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol. 2011;24:1157-68 pubmed publisher
    Diagnosis and classification of mastocytosis is currently based on the World Health Organization (WHO) criteria...
  3. Homann J, Kolck U, Ehnes A, Frieling T, Raithel M, Molderings G. [Systemic mastocytosis--definition of an internal disease]. Med Klin (Munich). 2010;105:544-53 pubmed publisher
    Systemic mastocytosis comprises disorders characterized by an accumulation of genetically altered mast cells in all organs and tissues due to an increased proliferation rate and reduced apoptosis of those pathologic mast cells...
  4. Heide R, Beishuizen A, de Groot H, den Hollander J, van Doormaal J, de Monchy J, et al. Mastocytosis in children: a protocol for management. Pediatr Dermatol. 2008;25:493-500 pubmed publisher
    b>Mastocytosis is characterized by an increased number of mast cells with an abnormal growth and accumulation in one or more organs...
  5. Horny H, Sotlar K, Valent P. Mastocytosis: state of the art. Pathobiology. 2007;74:121-32 pubmed
    b>Mastocytosis is a neoplastic disease involving mast cells (MC) and their CD34+ progenitors...
  6. Ma Y, Zeng S, Metcalfe D, Akin C, Dimitrijevic S, Butterfield J, et al. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood. 2002;99:1741-4 pubmed
    ..of c-KIT causing spontaneous activation of the KIT receptor kinase are associated with sporadic adult human mastocytosis (SAHM) and with human gastrointestinal stromal tumors...
  7. Heide R, Middelkamp Hup M, Mulder P, Oranje A. Clinical scoring of cutaneous mastocytosis. Acta Derm Venereol. 2001;81:273-6 pubmed
    There are still many controversies in defining and evaluating mastocytosis. One of the aspects that is missing is a system for clinical evaluation of mastocytosis of the skin...
  8. Lopez A, Spracklin D, McConkey S, Hanna P. Cutaneous mucinosis and mastocytosis in a shar-pei. Can Vet J. 1999;40:881-3 pubmed
    ..The condition reappeared 2 years later and subsequent biopsies revealed a mast cell tumor in some of the skin sites previously diagnosed with mucinosis...
  9. Escribano L, Diaz Agustin B, Bellas C, Navalón R, Nunez R, Sperr W, et al. Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis. Leuk Res. 2001;25:563-70 pubmed
    The diagnosis of bone marrow (BM) involvement in mastocytosis has mainly been based on conventional histology...
  10. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res. 2001;25:519-28 pubmed
    The organ most frequently involved in mastocytosis is the skin. Cutaneous mastocytosis (CM) is classified according to clinical presentation and is further defined by onset of disease...
  11. Sperr W, Escribano L, Jordan J, Schernthaner G, Kundi M, Horny H, et al. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res. 2001;25:529-36 pubmed
    ..bone marrow mast cells (MC) were analyzed and correlated with clinical parameters in 69 patients with systemic mastocytosis (SM)...
  12. Gonzalez de Olano D, de la Hoz Caballer B, Núñez López R, Sánchez Muñoz L, Cuevas Agustín M, Diéguez M, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exp Allergy. 2007;37:1547-55 pubmed
    ..b>Mastocytosis is characterized by an abnormal proliferation and accumulation of mast cells, in which mediators are released ..
  13. Hartmann K, Hermes B, Rappersberger K, Sepp N, Mekori Y, Henz B. Evidence for altered mast cell proliferation and apoptosis in cutaneous mastocytosis. Br J Dermatol. 2003;149:554-9 pubmed
    b>Mastocytosis presents as a focal or generalized increase of mast cells, particularly in the skin, but also in other organs...
  14. Yavuz A, Lipsky P, Yavuz S, Metcalfe D, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002;100:661-5 pubmed
    Mast cells are derived from multipotential hematopoietic progenitors and are clonally increased in systemic mastocytosis, a disease associated with point mutations of codon 816 (most commonly Asp816Val) of c-kit...
  15. Soderholm J. Mast cells and mastocytosis. Dig Dis. 2009;27 Suppl 1:129-36 pubmed publisher
    ..the tyrosine kinase- receptor for stem cell factor, are associated with the rare disease entity, systemic mastocytosis. These patients present symptoms arising from MC mediator release or infiltration...
  16. Schwartz L, Irani A. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14:641-57 pubmed
    ..serum sample when the ratio of total to beta-tryptase is 20 or greater strongly suggest underlying systemic mastocytosis. Whether these criteria prove to be more sensitive than a bone marrow biopsy will require further study...
  17. Dehò L, Monticelli S. Human mast cells and mastocytosis: harnessing microRNA expression as a new approach to therapy?. Arch Immunol Ther Exp (Warsz). 2010;58:279-86 pubmed publisher
  18. Escribano L, Diaz Agustin B, Nunez R, Prados A, Rodriguez R, Orfao A. Abnormal expression of CD antigens in mastocytosis. Int Arch Allergy Immunol. 2002;127:127-32 pubmed
    ..Multiparametric flow-cytometric studies have shown that mast cells from mastocytosis display unique immunophenotypic characteristics, including coexpression of CD2 and CD25 antigens together with ..
  19. Bandi S, Brandts C, Rensinghoff M, Grundler R, Tickenbrock L, Kohler G, et al. E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease. Blood. 2009;114:4197-208 pubmed publisher
    ..murine bone marrow retrovirally transduced with c-Cbl mutants and transplanted into mice led to a generalized mastocytosis, a myeloproliferative disease, and myeloid leukemia...
  20. Horny H. Mastocytosis: an unusual clonal disorder of bone marrow-derived hematopoietic progenitor cells. Am J Clin Pathol. 2009;132:438-47 pubmed publisher
    b>Mastocytosis, an unusual disorder of bone marrow-derived, clonally transformed hematopoietic progenitor cells, exhibits a broad spectrum of clinical and morphologic features ranging from a self-limiting benign disorder (ie, juvenile ..
  21. Zhang L, Smith M, Schultheis B, Fitzgibbon J, Lister T, Melo J, et al. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leuk Res. 2006;30:373-8 pubmed
    KIT mutation has been implicated in sporadic mastocytosis, yet clusters in only a few sites in the molecule...
  22. Escribano L, Akin C, Castells M, Schwartz L. Current options in the treatment of mast cell mediator-related symptoms in mastocytosis. Inflamm Allergy Drug Targets. 2006;5:61-77 pubmed
    Patients with mastocytosis have symptoms related to the tissue response to the release of mediators from mast cells (MC), local mast cell burden or associated non-mast cell hematological disorders...
  23. Ahmad N, Evans P, Lloyd Thomas A. Anesthesia in children with mastocytosis--a case based review. Paediatr Anaesth. 2009;19:97-107 pubmed publisher
    b>Mastocytosis is a rare heterogeneous disease of bone marrow origin which arises as a consequence of abnormal growth and/or accumulation of clonal mast cells in one or more organs...
  24. Dror Y, Leaker M, Caruana G, Bernstein A, Freedman M. Mastocytosis cells bearing a c-kit activating point mutation are characterized by hypersensitivity to stem cell factor and increased apoptosis. Br J Haematol. 2000;108:729-36 pubmed
    b>Mastocytosis is characterized by abnormal infiltration of mast cells into various organs...
  25. Martens Lobenhoffer J, Neumann H. Determination of 1-methylhistamine and 1-methylimidazoleacetic acid in human urine as a tool for the diagnosis of mastocytosis. J Chromatogr B Biomed Sci Appl. 1999;721:135-40 pubmed
    ..MHIS) and 1-methylimidazoleacetic acid (MIIA), in human urine is a useful tool for the diagnosis of mastocytosis. MHIS was extracted under basic conditions with chloroform and derivatized with trifluoroacetic acid anhydride, ..
  26. Konrad F, Unertl K, Schroeder T. [Mastocytosis. A challenge in anaesthesiology]. Anaesthesist. 2009;58:1239-43 pubmed publisher
    b>Mastocytosis is a general term for a heterogeneous group of rare disorders. Many agents used in anaesthesia can trigger mast cell degranulation with release of histamine, prostaglandin, tryptase and heparin...
  27. Waxtein L, Vega Memije M, Cortes Franco R, Dominguez Soto L. Diffuse cutaneous mastocytosis with bone marrow infiltration in a child: a case report. Pediatr Dermatol. 2000;17:198-201 pubmed
    b>Mastocytosis encompasses a range of disorders characterized by overproliferation and accumulation of tissue mast cells...
  28. Morimoto M, Utsumiya K. Enhanced protection against Heligmosomoides polygyrus in IL-2 receptor ?-chain overexpressed transgenic mice with intestinal mastocytosis. J Vet Med Sci. 2011;73:849-51 pubmed
    ..These mice also exhibit intestinal mastocytosis. Helminth infection induces various immune responses, such as mast cells, goblet cells, eosinophils and IgE, ..
  29. Rueff F, Dugas Breit S, Przybilla B. Stinging Hymenoptera and mastocytosis. Curr Opin Allergy Clin Immunol. 2009;9:338-42 pubmed publisher
    Patients suffering from mastocytosis are at risk for a particularly severe Hymenoptera sting anaphylaxis...
  30. Orfao A, Garcia Montero A, Sanchez L, Escribano L. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12-30 pubmed
    b>Mastocytosis is a heterogeneous disorder characterised by the expansion and accumulation of mast cells in different organs and tissues...
  31. Brockow K, Akin C, Huber M, Scott L, Schwartz L, Metcalfe D. Levels of mast-cell growth factors in plasma and in suction skin blister fluid in adults with mastocytosis: correlation with dermal mast-cell numbers and mast-cell tryptase. J Allergy Clin Immunol. 2002;109:82-8 pubmed
    Mast-cell accumulation has been observed in the skin and other organs of patients with systemic indolent mastocytosis (SM). The basis for this pathologic increase is not fully understood.
  32. Reilly J. Class III receptor tyrosine kinases: role in leukaemogenesis. Br J Haematol. 2002;116:744-57 pubmed
  33. Horny H, Valent P. Histopathological and immunohistochemical aspects of mastocytosis. Int Arch Allergy Immunol. 2002;127:115-7 pubmed
    The diagnosis of mastocytosis is based on histological evidence of a focal increase in tissue mast cells...
  34. Hartmann K, Henz B. Cutaneous mastocytosis -- clinical heterogeneity. Int Arch Allergy Immunol. 2002;127:143-6 pubmed
    Cutaneous mastocytosis (CM) encompasses several distinct patterns of disease which can be distinguished by the type of skin lesions, age of onset, familial occurrence, noncutaneous involvement, associated c-kit mutations, and prognosis...
  35. Longley B, Metcalfe D, Tharp M, Wang X, Tyrrell L, Lu S, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 1999;96:1609-14 pubmed
    Human mastocytosis is characterized by increased mast cells. It usually occurs as a sporadic disease that is often transient and limited in children and persistent or progressive in adults...
  36. Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol. 2006;19:595-615 pubmed
    Systemic mastocytosis (SM) is characterized by the abnormal growth and accumulation of mast cells (MC) in one or more organs...
  37. Hermine O, Lortholary O, Leventhal P, Catteau A, Soppelsa F, Baude C, et al. Case-control cohort study of patients' perceptions of disability in mastocytosis. PLoS ONE. 2008;3:e2266 pubmed publisher
    Indolent forms of mastocytosis account for more than 90% of all cases, but the types and type and severity of symptoms and their impact on the quality of life have not been well studied...
  38. Ishiguro T, Kadosawa T, Mori K, Takagi S, Okumura M, Fujinaga T. Establishment and characterization of a new canine mast cell tumor cell line. J Vet Med Sci. 2001;63:1031-4 pubmed
    ..This cell line will make an available source for studies on canine mast cell tumors...
  39. Murphy M, Walsh D, Drumm B, Watson R. Bullous mastocytosis: a fatal outcome. Pediatr Dermatol. 1999;16:452-5 pubmed
    A 6-week-old boy was referred with a generalized bullous rash since birth. Examination revealed bullous mastocytosis with initially no evidence of systemic involvement...
  40. Valent P, Horny H, Escribano L, Longley B, Li C, Schwartz L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25:603-25 pubmed
    The term 'mastocytosis' denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organ systems...
  41. Bonadonna P, Zanotti R, Muller U. Mastocytosis and insect venom allergy. Curr Opin Allergy Clin Immunol. 2010;10:347-53 pubmed publisher
    To analyse the association of systemic allergic hymenoptera sting reactions with mastocytosis and elevated baseline serum tryptase and to discuss diagnosis and treatment in patients with both diseases.
  42. Hartmann K, Henz B. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001;144:682-95 pubmed
    b>Mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues, which may present in a variety of clinical patterns...
  43. Zuberbier T, Welker P, Grabbe J, Henz B. Effect of granulocyte macrophage colony-stimulating factor in a patient with benign systemic mastocytosis. Br J Dermatol. 2001;145:661-6 pubmed
    ..a known inhibitor of in vitro mast cell differentiation, in a patient with benign, adult-onset systemic mastocytosis. In vitro effects of GM-CSF on bone marrow cultures before the start of treatment showed a marked inhibition of ..
  44. Li C, Baek J. Mastocytosis and fibrosis: role of cytokines. Int Arch Allergy Immunol. 2002;127:123-6 pubmed
    b>Mastocytosis is a rare stem cell disorder characterized by abnormal growth and accumulation of mast cells in one or more organ systems. Clinical heterogeneity is a hallmark of mastocytosis...
  45. Brandt E, Strait R, Hershko D, Wang Q, Muntel E, Scribner T, et al. Mast cells are required for experimental oral allergen-induced diarrhea. J Clin Invest. 2003;112:1666-77 pubmed
    ..restricted, dose-dependent, acute diarrhea associated with increased intestinal permeability, eosinophilia, and mastocytosis. Mice developed limited systemic manifestations of anaphylaxis, even though they developed marked intestinal ..
  46. Metcalfe D, Akin C. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk Res. 2001;25:577-82 pubmed
    Systemic mastocytosis has one unifying feature: an unexplained and pathologic increase in mast cells in specific tissues...
  47. Jost E, Michaux L, Vanden Abeele M, Boland B, Latinne D, Godfraind C, et al. Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage. Ann Hematol. 2001;80:302-7 pubmed
    Aggressive mastocytosis is a form of systemic mast cell disease (SMCD) characterized by organ infiltration, bone lesions. eosinophilia and lymphadenopathies...
  48. Metcalfe D. Mast cells and mastocytosis. Blood. 2008;112:946-56 pubmed publisher
    ..In hematology, the clinical disease of mastocytosis is characterized by a pathologic increase of mast cells in tissues, often associated with mutations in KIT, the ..
  49. Moura D, Sultan S, Georgin Lavialle S, Pillet N, Montestruc F, Gineste P, et al. Depression in patients with mastocytosis: prevalence, features and effects of masitinib therapy. PLoS ONE. 2011;6:e26375 pubmed publisher
    Depression in patients with mastocytosis is often reported but its prevalence and characteristics are not precisely described...
  50. Carter M, Uzzaman A, Scott L, Metcalfe D, Quezado Z. Pediatric mastocytosis: routine anesthetic management for a complex disease. Anesth Analg. 2008;107:422-7 pubmed publisher
    Pediatric mastocytosis consists of a spectrum of clinical variants characterized by increased numbers of resident mast cells in various organ systems...
  51. Escribano L, Diaz Agustin B, Lopez A, Núñez López R, Garcia Montero A, Almeida J, et al. Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom. 2004;58:1-8 pubmed
    b>Mastocytosis is a term used for a heterogeneous group of disorders characterized by an abnormal proliferation and accumulation of mast cells (MCs) in one or multiple tissues including skin, bone marrow, liver, spleen, and lymph nodes, ..
  52. Akin C, Schwartz L, Kitoh T, Obayashi H, Worobec A, Scott L, et al. Soluble stem cell factor receptor (CD117) and IL-2 receptor alpha chain (CD25) levels in the plasma of patients with mastocytosis: relationships to disease severity and bone marrow pathology. Blood. 2000;96:1267-73 pubmed
    Systemic mastocytosis is a disease of mast cell proliferation that may be associated with hematologic disorders...
  53. Garcia Montero A, Jara Acevedo M, Teodosio C, Sanchez M, Nunez R, Prados A, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108:2366-72 pubmed
    ..of KIT mutations in different compartments of bone marrow (BM) hematopoietic cells of individuals with systemic mastocytosis (SM), and its different diagnostic categories, remains unknown...