| Entity | Piebaldism. |
| Disease | autosomal dominant disorder of pigmentation; loss of function abnormalities of the c-kit gene have been demonstrated in 59% of the typical patients. |
| | |
| Entity | Familial gastrointestinal stromal tumours and sporadic gastrointestinal stromal tumours (GISTs). |
| Disease | GISTs are the most common mesenchymal tumors in the human digestive tract; they originate from kit-expressing cells (ICCs), and often have activating c-kit mutations clustered in the juxtamembrane domain. |
| | |
| Entity | systemic mast cell disease (SMCD) |
| Disease | mast cell hyperplasia in the bone marrow, liver, spleen, lymph nodes, gastrointestinal tract and skin; gain of function mutations are detected in most patients |
| Prognosis | depending on the four clinical entities recognized: indolent form, form associated with hematologic disorder, aggressive SMCD and mast cell leukemia; leukemic transformation with mast cell involvement is characterized by rapid progression of disease with a survival time less than 1 year |
| Oncogenesis | clinical features of malignant hematopoietic cell growth are influenced by the time, the location of c-kit mutative events, and the number of associated lesions. |
| | |
| Entity | Core binding factor leukemias (ANLL-M2 with t(8;21) (link), (ANLL-M4Eo with inv(16)) |
| Disease | characterized by disruption and loss of CBFa2/AML1 - CBFb/PEBP2b function. Myelomonoblastic leukemia cells are marked by combined positivity for the stem cell antigens CD34, CD117 and high frequency of c-kit mutations ( see Figure on CBF leukemia and KIT mutations) |
| | |
| Cloning and structural analysis of the human c-kit gene. |
| Vandenbark GR, deCastro CM, Taylor H, Dew-Knight S, Kaufman RE |
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| PMID 1377810 |
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| Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. |
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| PMID 8589724 |
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| Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes. |
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| PMID 10665649 |
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| PMID 10554798 |
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| PMID 10362788 |
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| PMID 9990072 |
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| PMID 10702394 |
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| PMID 10660321 |
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