NDLI: Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia

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Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia

Content Provider	Scilit
Author	Doisaki, Sayoko Muramatsu, Hideki Shimada, Akira Takahashi, Yoshiyuki Mori-Ezaki, Makiko Sato, Masanori Kawaguchi, Hiroyuki Kinoshita, Akitoshi Sotomatsu, Manabu Hayashi, Yasuhide Furukawa-Hibi, Yoko Yamada, Kiyofumi Hoshino, Hideaki Kiyoi, Hitoshi Yoshida, Nao Sakaguchi, Hirotoshi Narita, Atsushi Wang, Xinan Ismael, Olfat Xu, Yinyan Nishio, Nobuhiro Tanaka, Makito Hama, Asahito Koike, Kenichi Kojima, Seiji
Copyright Year	2012
Description	Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm characterized by excessive proliferation of myelomonocytic cells. Somatic mutations in genes involved in GM-CSF signal transduction, such as NRAS, KRAS, PTPN11, NF1, and CBL, have been identified in more than 70% of children with JMML. In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML. The mutated allele frequencies quantified by pyrosequencing were various and ranged from 3%-50% in BM and other somatic cells (ie, buccal smear cells, hair bulbs, or nails). Both patients experienced spontaneous improvement of clinical symptoms and leukocytosis due to JMML without hematopoietic stem cell transplantation. These patients are the first reported to have somatic mosaicism for oncogenic NRAS mutations. The clinical course of these patients suggests that NRAS mosaicism may be associated with a mild disease phenotype in JMML.
Related Links	http://www.bloodjournal.org/content/bloodjournal/120/7/1485.full.pdf
Ending Page	1488
Page Count	4
Starting Page	1485
DOI	10.1182/blood-2012-02-406090
Journal	Blood
Issue Number	7
Volume Number	120
Language	English
Publisher	American Society of Hematology
Publisher Date	2012-08-16
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Pediatrics and Child Health Jmml Somatic Children Mutations Nras Mosaicism Juvenile Myelomonocytic Leukemia Journal: Blood (Vol- 100, Issue- 7)
Content Type	Text
Resource Type	Article

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