Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia
| Autor: | Yuka Saito, Takeshi Rikiishi, Seiji Kojima, Shigeru Tsuchiya, Hideki Muramatsu, Masue Imaizumi, Shigeo Kure, Yoko Aoki, Yoichi Matsubara, Hideki Makishima, Tetsuya Niihori, Jaroslaw P. Maciejewski, Yoji Sasahara |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Cancer Research Myeloid Somatic cell DNA Mutational Analysis Gene Dosage Biology Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Gene dosage Article Germline Cohort Studies Mice Germline mutation CDKN2A hemic and lymphatic diseases medicine Animals Humans Child B-cell lymphoma Cells Cultured Base Sequence Infant Hematology Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease Oncogene Protein v-cbl Uniparental disomy medicine.anatomical_structure Oncology Mutation Immunology NIH 3T3 Cells Cancer research Female biological phenomena cell phenomena and immunity |
| Zdroj: | Leukemia Research. 36:1009-1015 |
| ISSN: | 0145-2126 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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