Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Doisaki S,Muramatsu H,Shimada A,Takahashi Y,Mori-Ezaki M,Sato M,Kawaguchi H,Kinoshita A,Sotomatsu M,Hayashi Y,Furukawa-Hibi Y,Yamada K,Hoshino H,Kiyoi H,Yoshida N,Sakaguchi H,Narita A,Wang X,Ismael O,Xu Y,Nishio Ndoi
10.1182/blood-2012-02-406090subject
Has Abstractpub_date
2012-08-16 00:00:00pages
1485-8issue
7eissn
0006-4971issn
1528-0020pii
blood-2012-02-406090journal_volume
120pub_type
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