期刊
LEUKEMIA
卷 26, 期 11, 页码 2384-2389出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/leu.2012.109
关键词
tyrosine kinase; sorafenib; CMML
资金
- Institut National du Cancer (INCa)
- Association pour la Recherche contre le Cancer (ARC)
- CITTIL (Cooperacion de investigacion transpirenaica en la terapia innovadora de la leucemia)
Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F. We report here the cloning and functional characterization of two novel fusion genes BCR-RET and FGFR1OP-RET in chronic myelomonocytic leukemia (CMML) cases generated by two balanced translocations t(10; 22)(q11;q11) and t(6;10)(q27;q11), respectively. The two RET fusion genes leading to the aberrant activation of RET, are able to transform hematopoietic cells and skew the hematopoietic differentiation program towards the monocytic/macrophage lineage. The RET fusion genes seem to constitutively mimic the same signaling pathway as RAS mutations frequently involved in CMML. One patient was treated with Sorafenib, a specific inhibitor of the RET TK function, and demonstrated cytological and clinical remissions.
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