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Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not available as it is a rare disorder. Mastocytosis in children is generally limited to the skin and follows a self limited course, while it is a disorder of the hematopoietic stem cell associated with somatic mutations of the c-kit gene in most patients with adult-onset of disease. There is no known curative therapy for most patients with systemic mastocytosis. Recent research studies identified several subtypes of disease with distinct clinical and pathologic features, however, a precise understanding of the incidence as well as molecular pathology of different disease subtypes is lacking. This study aims to examine molecular and cellular pathological aspects of disease in patients with mastocytosis and correlate findings with clinical presentation and prognosis. Patients will undergo a routine history and physical examination, and diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of the c-kit gene regulating mast cell growth and differentiation will be performed. It is hoped that findings obtained from this study will help to design novel therapies for mastocytosis and other disorders in which mast cells play a critical role.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants evaluated for mastocytosis | Observational study of all patients referred for suspected mast cell disease. Collection of blood or bone marrow for analysis during diagnostic procedures. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Collection of blood and bone marrow | Other | 5-8 cc blood or bone marrow was additionally collected for analysis during diagnostic procedures. No assigned interventions. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Proportion of the patients with clonal and non-clonal mast cell disorders | Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data | 1 week |
| Measure | Description | Time Frame |
|---|---|---|
| Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells | KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells. | 1 week |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with confirmed or suspected mast cell disease
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| Name | Affiliation | Role |
|---|---|---|
| Cem Akin, M.D., Ph.D. | University of Michigan | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Michigan | Ann Arbor | Michigan | 48109 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 15995326 | Background | Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563. | |
| 16434489 | Background | Shah NP, Lee FY, Luo R, Jiang Y, Donker M, Akin C. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood. 2006 Jul 1;108(1):286-91. doi: 10.1182/blood-2005-10-3969. Epub 2006 Jan 24. |
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| ID | Term |
|---|---|
| D008415 | Mastocytosis |
| D000090362 | Mast Cell Activation Disorders |
| D000707 | Anaphylaxis |
| D016116 | Piebaldism |
| ID | Term |
|---|---|
| D009372 | Neoplasms, Connective Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
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Plasma and nucleic acid.
| 14746529 | Background | Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822. |
| D007154 | Immune System Diseases |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D000417 | Albinism |
| D015785 | Eye Diseases, Hereditary |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D012873 | Skin Diseases, Genetic |
| D017496 | Hypopigmentation |
| D010859 | Pigmentation Disorders |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |