Somatic mosaicism of RAS pathway gene mutations in pediatric myeloid malignancies

2014 Fiscal Year Final Research Report

• 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: MURAMATSU Hideki 名古屋大学, 医学部附属病院, 助教 (00572570)
• 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