Haematologica, Vol 92, Issue 11, 1576-1578 doi:10.3324/haematol.11503
Copyright © 2007 by Ferrata Storti Foundation
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Juvenile Myelomonocytic Leukemia

Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation

Kazuyuki Matsuda*, Yozo Nakazawa°, Kazuo Sakashita°, Masaaki Shiohara°, Kazuyoshi Yamauchi*, Kenichi Koike°,

* Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto;
° Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan

Correspondence: Kenichi Koike, M.D., Department of Pediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, 390-8621, Japan. Phone: international +81.263372642. Fax: international +81.263373089. E-mail: koikeken{at}hsp.md.shinshu-u.ac.jp

In a patient with juvenile myelomonocytic leukemia, a NRAS mutation at codon 12 (GGT>TGT) was initially heterozygous, but became homozygous after blastic crisis (BC). According to microsatellite and FISH analyses, the post-BC homozygous mutation might result from the loss of the wild-type NRAS locus through mitotic recombination.

Key words: JMML, NRAS mutation, blastic crisis, LOH, mitotic recombination.


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