2014 Fiscal Year Final Research Report
Somatic mosaicism of RAS pathway gene mutations in pediatric myeloid malignancies
Project/Area Number |
24791054
|
Research Category |
Grant-in-Aid for Young Scientists (B)
|
Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
|
Research Institution | Nagoya University |
Principal Investigator |
|
Project Period (FY) |
2012-04-01 – 2015-03-31
|
Keywords | 若年性骨髄単球性白血病 / RAS / 体細胞モザイク |
Outline of Final Research Achievements |
Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloid neoplasm of early childhood characterized by the excessive proliferation of myelomonocytic cells. Somatic mutations in PTPN11, NRAS, KRAS, NF1, or CBL, which induce deregulation of the RAS signaling pathway, are responsible for the pathogenesis of JMML. We screened mutational status of JMML patients, and reported 2 patients with somatic mosaicism of oncogenic NRAS mutation (Doisaki S, et al., Blood 2012). In total, we could identified 6 patients of JMML with somatic mosaicism of RAS pathway genes.
|
Free Research Field |
小児科学
|