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

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

doi:10.1038/jhg.2016.8

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

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

研究成果 › 査読

9 被引用数 (Scopus)

抄録

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.

本文言語	English
ページ（範囲）	523-526
ページ数	4
ジャーナル	Journal of Human Genetics
巻	61
号	6
DOI	https://doi.org/10.1038/jhg.2016.8
出版ステータス	Published - 6月 1 2016

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

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10.1038/jhg.2016.8

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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.",

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AU - Muraoka, Michiko

AU - Okuma, Chiho

AU - Kanemitsu, Kiichiro

AU - Ishida, Hisashi

AU - Kanazawa, Yui

AU - Washio, Kana

AU - Seki, Masafumi

AU - Kato, Motohiro

AU - Takita, Junko

AU - Sato, Yusuke

AU - Ogawa, Seishi

AU - Tsukahara, Hirokazu

AU - Oda, Megumi

AU - Shimada, Akira

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N2 - 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.

AB - 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.

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

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