c-Kit and c-kit mutations in mastocytosis and other hematological diseases

Mastocytosis in children is associated with mutations in c-KIT.

Transcription Factor SCL Is Required for c-kit Expression and c-Kit Function in Hemopoietic Cells

In normal hemopoietic cells that are dependent on specific growth factors for cell survival, the expression of the basic helix-loop-helix transcription factor SCL/Tal1 correlates with that of c-Kit, the receptor for Steel factor (SF) or stem cell factor. To address the possibility that SCL may function upstream of c-kit, we sought to modulate endogenous SCL function in the CD34(+) hemopoietic c...

C-kit mutations in core binding factor leukemias.

1. Kupfer GM, Naf D, Suliman A, Pulsipher M, D’Andrea AD. The Fanconi anemia proteins FAA and FAC, interact to form a nuclear complex. Nat. Genet. 1997; 17:487-490. 2. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D’Andrea AD: Fanconi anemia proteins FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell Biol. 1999;19:4866-4873. 3. Savoia A, Garcia-Higuera I, D’Andrea AD:...

Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations.

Compared with adults, pediatric mastocytosis has a relatively favorable prognosis. Interestingly, a difference was also observed in the status of c-kit mutations according to the age of onset. Although most adult patients have a D(816)V mutation in phosphotransferase domain (PTD), we have described that half of the children carry mutations in extracellular domain (ECD). KIT-ECD versus KIT-PTD m...

Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive

Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient's...