Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia

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• 作者：Yuka Saito^a ; Yoko Aoki^a ; ^{aokiy@med.tohoku.ac.jp} ; Hideki Muramatsu^b ; Hideki Makishima^c ; Jaroslaw P. Maciejewski^c ; Masue Imaizumi^d ; Takeshi Rikiishi^e ; Yoji Sasahara^e ; Shigeo Kure^e ; Tetsuya Niihori^a ; Shigeru Tsuchiya^e ; Seiji Kojima^b ; Yoichi Matsubara^a
• 关键词：CBL ; Acute lymphoblastic leukemia ; Noonan syndrome ; RAS ; NOTCH
• 刊名：Leukemia Research
• 出版年：2012
• 期刊代码：186_01452126
• 类别：med
• 出版时间：August, 2012
• 卷：36
• 期：8
• 页码：1009-1015
• 文件大小：708 K

摘要

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.