Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy

Michiko Muraoka, Chiho Okuma, Kiichiro Kanamitsu, Hisashi Ishida, Yui Kanazawa, Kana Washio, Masafumi Seki, Motohiro Kato, Junko Takita, Yusuke Sato, Seishi Ogawa, Hirokazu Tsukahara, Megumi Oda, Akira Shimada

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Juvenile myelomonocytic leukemia (JMML) appears to be a life-threatening disease and showed poor prognosis even after hematopoietic stem cell transplantation (HSCT) because of high relapse rate. On the other hand, recent molecular analysis revealed the heterogeneity of JMML. Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder. We think that some JMML patients with CBL mutation might show the good prognosis in later life after remission of JMML.

Original languageEnglish
Pages (from-to)523-526
Number of pages4
JournalJournal of Human Genetics
Volume61
Issue number6
DOIs
Publication statusPublished - Jun 1 2016

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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