致癌性KRAS拷贝数增加导致青少年粒单核细胞白血病的原始细胞转化。
Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS.
作者信息
Osumi Tomoo, Kato Motohiro, Ouchi-Uchiyama Meri, Tomizawa Daisuke, Kataoka Keisuke, Fujii Yoichi, Seki Masafumi, Takita Junko, Ogawa Seishi, Uchiyama Toru, Ohki Kentaro, Kiyokawa Nobutaka
机构信息
Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
出版信息
Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26496. Epub 2017 Feb 28.
Previous studies have reported several cases of juvenile myelomonocytic leukemia (JMML) developing blastic transformation during an indolent clinical course, but the underlying mechanism of transformation is still not well understood. In this report, we describe a case of JMML with blastic transformation possibly caused by additional copy number gains of the KRAS mutant allele. We have discovered that the copy number gain of the mutant allele is an additional possible cause of blastic transformation in JMML.
既往研究报道了几例青少年粒单核细胞白血病（JMML）在惰性临床病程中发生原始细胞转化的病例，但转化的潜在机制仍未完全明确。在本报告中，我们描述了一例JMML原始细胞转化病例，可能由KRAS突变等位基因的额外拷贝数增加所致。我们发现突变等位基因的拷贝数增加是JMML原始细胞转化的另一个可能原因。
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