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

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

doi:10.1038/jhg.2016.8

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

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

来源：Journal of Human Genetics, 2016, 61(6): 523-526.

DOI：10.1038/jhg.2016.8

摘要

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 420 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.