Article
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Nature genetics - 1 Aug 2013
Sakaguchi Hirotoshi, Okuno Yusuke, Muramatsu Hideki, Yoshida Kenichi, Shiraishi Yuichi, Takahashi Mariko, Kon Ayana, Sanada Masashi, Chiba Kenichi, Tanaka Hiroko, Makishima Hideki, Wang Xinan, Xu Yinyan, Doisaki Sayoko, Hama Asahito, Nakanishi Koji, Takahashi Yoshiyuki, Yoshida Nao, Maciejewski Jaroslaw P, Miyano Satoru, Ogawa Seishi, Kojima Seiji
Abstract excerpt
Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11, NF1, NRAS, KRAS and CBL, in the majority of cases. To obtain a complete registry of gene mutations in JMML, whole-exome sequencing was performed for paired tumor-normal DNA from 13...
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