Genomes and Genes
Affiliation: National Institutes of Health
- 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. 2007..It is of paramount importance, however, to distinguish between these 2 groups of patients because of differences in clinical sequelae, prognoses, and selection of treatment...
- Bone marrow findings in HIV-positive patients with Kaposi sarcoma herpesvirus-associated multicentric Castleman diseaseGirish Venkataraman
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
Am J Clin Pathol 139:651-61. 2013..Bone marrow biopsy specimens in KSHV-MCD patients recapitulate findings of interleukin-6 excess. In patients with HIV, unexplained cytopenias, and bone marrow plasmacytosis, evaluation for KSHV-MCD is warranted...
- B-cell depletion and remissions of malignancy along with cytokine-associated toxicity in a clinical trial of anti-CD19 chimeric-antigen-receptor-transduced T cellsJames N Kochenderfer
Experimental Transplantation and Immunology Branch, National Cancer Institute NCI, Bethesda, MD 20892, USA
Blood 119:2709-20. 2012....
- mTORC1 and mTORC2 differentially regulate homeostasis of neoplastic and non-neoplastic human mast cellsDaniel Smrz
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 1881, USA
Blood 118:6803-13. 2011....
- Flow cytometric differentiation of abnormal and normal plasma cells in the bone marrow in patients with multiple myeloma and its precursor diseasesPrashant R Tembhare
Flow Cytometry Laboratory, Laboratory of Pathology, CCR, NCI, NIH, Bethesda, MD, USA
Leuk Res 38:371-6. 2014..We evaluated differences in antigen expression patterns among MGUS (N = 14), SMM (N = 35) and MM (N = 10), finding the combination of CD45 and CD56 helpful in differentiating MGUS from SMM and MM (p = 0.0002)...
- KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cellsEunice Ching Chan
Mast Cell Biology Section, Laboratory of Allergic Diseases, Bethesda, MD, USA
Exp Hematol 41:870-881.e2. 2013..These data suggest that neoplastic mast cells favor a GNNK(-) variant predominance, which in turn enhances the activating potential of the KIT D816V mutation and thus could influence therapeutic sensitivity in systemic mastocytosis. ..
- IL-5 receptor α levels in patients with marked eosinophilia or mastocytosisTodd M Wilson
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
J Allergy Clin Immunol 128:1086-92.e1-3. 2011..Although IL-5, IL-3, and GM-CSF can modulate the expression of IL-5 receptor α (IL-5Rα) on eosinophils in vitro, little is known about soluble and surface IL-5Rα levels in vivo...
- Bone marrow abnormalities and early bone lesions in multiple myeloma and its precursor disease: a prospective study using functional and morphologic imagingManisha Bhutani
a Multiple Myeloma Section, Lymphoid Malignancies Branch, CCR, NCI, NIH, Bethesda, MD, USA
Leuk Lymphoma 57:1114-21. 2016..Abnormal NaF uptake was observed only in MM patients with lytic lesions on CT, providing no additional clinical information...
- Relapse following discontinuation of imatinib mesylate therapy for FIP1L1/PDGFRA-positive chronic eosinophilic leukemia: implications for optimal dosingAmy D Klion
Laboratory of Parasitic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health NIH, Bethesda, MD 20892, USA
Blood 110:3552-6. 2007..This trial was registered at http://www.clinicaltrials.gov as no. NCT00044304...
- Enzymatic activities of circulating plasma proteasomes in newly diagnosed multiple myeloma patients treated with carfilzomib, lenalidomide and dexamethasoneElisabet E Manasanch
a Multiple Myeloma Section, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Leuk Lymphoma . 2016..Further studies evaluating proteasome activity in malignant plasma cells may help elucidate how proteasome activity can be used as a biomarker in multiple myeloma...
- Flow cytometric sensitivity and characteristics of plasma cells in patients with multiple myeloma or its precursor disease: influence of biopsy site and anticoagulation methodElisabet E Manasanch
Multiple Myeloma Section, Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Leuk Lymphoma 56:1416-24. 2015..05). Our results show that plasma cell enumeration and immunophenotyping by flow cytometry is consistent under different conditions in these populations. ..
- Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotypeEunice Ching Chan
Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
J Allergy Clin Immunol 134:178-87. 2014..Mastocytosis associated with germline KIT activating mutations is exceedingly rare. We report the unique clinicopathologic features of a patient with systemic mastocytosis caused by a de novo germline KIT K509I mutation...
- MicroRNA profiling of follicular lymphoma identifies microRNAs related to cell proliferation and tumor responseWeixin Wang
Department of Laboratory Medicine, Hematology Section NIH Clinical Center, 10 Center Dr, Bldg 10 2C306 Bethesda, 20892 1508, USA
Haematologica 97:586-94. 2012..MicroRNAs can play an important role in tumorigenesis through post-transcriptional regulation of gene expression, and are not well characterized in follicular lymphoma...
- Bortezomib resistance in mantle cell lymphoma is associated with plasmacytic differentiationPatricia Perez-Galan
Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 117:542-52. 2011..Expression of CD38 and IRF4 could serve as markers of bortezomib resistance in MCL. This study has been registered at http://clinicaltrials.gov as NCT00131976...
- Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosisTodd M Wilson
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, 20892 1881, USA
Haematologica 96:459-63. 2011..Unlike other mature lineages, mast cell survival is dependent on KIT and the presence of these two activating mutations may have a greater impact on the expansion of this cell compartment and in resultant disease severity...
- Clonal evolution leading to ibrutinib resistance in chronic lymphocytic leukemiaInhye E Ahn
Medical Oncology Service, National Cancer Institute, Bethesda, MD, United States
Blood . 2017..8 months median survival from the time of progression. This trial was registered at www.clinicaltrials.gov as NCT01500733...
- Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosisMelody C Carter
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md Electronic address
J Allergy Clin Immunol 136:1673-79.e1-3. 2015..This is because there is limited information as to the application of clinical and laboratory findings and bone marrow histopathology as they relate to medical intervention and communication...
- The eosinophil surface receptor epidermal growth factor-like module containing mucin-like hormone receptor 1 (EMR1): a novel therapeutic target for eosinophilic disordersFanny Legrand
Eosinophil Pathology Unit, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md Electronic address
J Allergy Clin Immunol 133:1439-47, 1447.e1-8. 2014..Although several novel agents are currently in clinical trials for eosinophilic disorders, none has demonstrated efficacy in reducing blood and tissue eosinophilia in all subjects. Additional approaches are clearly needed...
- Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implicationsKatherine R Calvo
Hematology Section, Department of Laboratory Medicine, NIH Clinical Center, 10 Center Dr, Bethesda, MD 20892 1508, USA
Haematologica 96:1221-5. 2011..MonoMAC appears to be a unique, inherited syndrome of bone marrow failure. We describe distinctive bone marrow features to help in its recognition and diagnosis. (Clinicaltrials.gov identifiers: NCT00018044, NCT00923364, NCT01212055)...
- Combination erythropoietin-hydroxyurea therapy in sickle cell disease: experience from the National Institutes of Health and a literature reviewJane A Little
Vascular Medicine Branch, National Heart Lung and Blood Institute, Clinical Center, National Institutes of Health, Bethesda, MD 20892 1476, USA
Haematologica 91:1076-83. 2006..Furthermore EPO appears to be safe in SCD, particularly when used in conjunction with HU. We outline our current therapeutic strategy for EPO use in SCD...
- Prospective cell sorting of embryonic rat neural stem cells and neuronal and glial progenitors reveals selective effects of basic fibroblast growth factor and epidermal growth factor on self-renewal and differentiationDragan Maric
Laboratory of Neurophysiology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
J Neurosci 23:240-51. 2003....
- Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Blood 116:4990-5001. 2010..This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421...
- Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorderPaneez Khoury
Laboratory of Parasitic Diseases, NIAID, National Institutes of Health, Bethesda, MD
Haematologica 100:300-7. 2015..Whether these cells act directly or promote eosinophilia and eosinophil activation remains to be elucidated. All subjects gave informed consent and were evaluated under an Institutional Review Board-approved protocol (NCT00001406). ..
- Modeling progression risk for smoldering multiple myeloma: results from a prospective clinical studyBenjamin M Cherry
Multiple Myeloma Section, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Leuk Lymphoma 54:2215-8. 2013..0001), low versus non-low (p = 0.0007) and high versus non-high (p < 0.0001) risk. There is a need for prospectively validated models to characterize individual patient risk of transformation to MM...
- Directed therapy for patients with myelodysplastic syndromes (MDS) by suppression of cyclin D1 with ON 01910.NaMatthew J Olnes
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Leuk Res 36:982-9. 2012..Knockdown" of cyclin D1 by RNA interference decreased trisomy 8 cell growth, suggesting that this might be a therapeutic target in MDS...
- Abnormal bone marrow histopathology in paediatric mastocytosisMelody C Carter
National Institute of Allergy and Infectious Diseases, Laboratory of Allergic Diseases, National Institutes of Health NIH, Bethesda, MD, USA
Br J Haematol 168:865-73. 2015..Although unsuspected bone marrow findings typically seen in myeloproliferative disorders are frequent in paediatric mastocytosis, patients within this study remained clinically stable without progression to a more aggressive variant. ..
- Pediatric-onset mastocytosis: a long term clinical follow-up and correlation with bone marrow histopathologyAshraf Uzzaman
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Blood Cancer 53:629-34. 2009..We addressed the long term prognosis of pediatric-onset disease by examining 17 children with mastocytosis which we had reported on in 1989 ...
- Eradication of B-lineage cells and regression of lymphoma in a patient treated with autologous T cells genetically engineered to recognize CD19James N Kochenderfer
Surgery Branch, National Cancer Institute, Bethesda, MD 20892, USA
Blood 116:4099-102. 2010..Adoptive transfer of anti-CD19-CAR-expressing T cells is a promising new approach for treating B-cell malignancies. This study is registered at www.clinicaltrials.gov as #NCT00924326...
- Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiencyRobert Sokolic
Disorders of Immunity Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Blood 118:2688-94. 2011..These trials were registered at www.clinicaltrials.gov as #NCT00018018 and #NCT00006319...
- York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1Thomas Markello
NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 114:474-82. 2015..These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. ..
- Phase I study of recombinant human interleukin-7 administration in subjects with refractory malignancyClaude Sportes
Experimental Transplantation and Immunology Branch, National Cancer Institute, NIH, Bethesda, Maryland 20892 1203, USA
Clin Cancer Res 16:727-35. 2010..We report here on the toxicity and biological activity of recombinant human IL-7 (rhIL-7) in humans...
- An interleukin-6-related systemic inflammatory syndrome in patients co-infected with Kaposi sarcoma-associated herpesvirus and HIV but without Multicentric Castleman diseaseThomas S Uldrick
HIV and AIDS Malignancy Branch, National Cancer Institute Frederick, Frederick, MD, USA
Clin Infect Dis 51:350-8. 2010..Patients with KSHV-MCD develop fevers, wasting, hypoalbuminemia, cytopenias, and hyponatremia that are related to overproduction of KSHV-encoded viral interleukin (IL)-6 (vIL-6) and human IL-6 (hIL-6)...
- The lymph node microenvironment promotes B-cell receptor signaling, NF-kappaB activation, and tumor proliferation in chronic lymphocytic leukemiaYair Herishanu
National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Blood 117:563-74. 2011..These data identify the disruption of tumor microenvironment interactions and the inhibition of BCR signaling as promising therapeutic strategies in CLL. This study is registered at http://clinicaltrials.gov as NCT00019370...
- Hematologic, biochemical, and cardiopulmonary effects of L-arginine supplementation or phosphodiesterase 5 inhibition in patients with sickle cell disease who are on hydroxyurea therapyJane A Little
Pulmonary and Vascular Medicine Branch, National Heart Lung and Blood Institute, NIH, Bethesda, MD 20892 1476, USA
Eur J Haematol 82:315-21. 2009..L-arginine, an NO precursor, and the phosphodiesterase (PDE) 5 inhibitor sildenafil, which potentiates cGMP, were studied in adults with sickle cell disease (SCD) who were stably on HU...
- von Hippel-Lindau disease-associated hemangioblastomas are derived from embryologic multipotent cellsDeric M Park
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Med 4:e60. 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)...
- Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative diseaseCindy S Ma
Lymphocyte Differentiation Laboratory, Centenary Institute of Cancer Medicine and Cell Biology, Newtown, New South Wales, Australia
J Clin Invest 116:322-33. 2006..Production of affinity-matured IgM by IgMCD27 B cells may protect against pathogens to which a normal immune response is elicited in XLP patients...