RRC ID 27183
Author Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y.
Title Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.
Journal Leuk Res
Abstract Somatic CBL mutations have been reported in a variety of myeloid neoplasms but are rare in acute lymphoblastic leukemia (ALL). We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML. Two NOTCH1 mutations and homozygous deletions in LEF1 and CDKN2A were identified in T-ALL cells. The activation of the RAS pathway was enhanced, and activation of the NOTCH1 pathway was inhibited in NIH 3T3 cells that expressed p.C381R. This study appears to be the first to identify a CBL mutation in T-ALL.
Volume 36(8)
Pages 1009-15
Published 2012-8-1
DOI 10.1016/j.leukres.2012.04.018
PII S0145-2126(12)00193-2
PMID 22591685
PMC PMC3693942
MeSH Animals Base Sequence Cells, Cultured Child Cohort Studies DNA Mutational Analysis Female Gene Dosage Humans Infant Male Mice Mutation* / physiology NIH 3T3 Cells Oncogene Protein v-cbl / genetics* Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
IF 2.214
Times Cited 8
DNA material pEF-BOSneo-mNotch1 RAMIC (RDB06771) HES-1-Luc-Reporter (RDB06775)