Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia
Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia
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DOI：
10.1002/pbc.26647
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发表时间：
2017-12-01
影响因子：
3.2
通讯作者：
Manabe, Atsushi
中科院分区：
文献类型：
--
作者：
Hirabayashi, Shinsuke;Seki, Masafumi;Manabe, Atsushi
Maffucci综合征是一种由体细胞嵌合型异柠檬酸脱氢酶1或2(IDH1或IDH2)突变引起的非遗传性疾病，以多发性内生性软骨瘤和血管瘤为特征。内生性软骨瘤向软骨肉瘤的恶变和继发性肿瘤，如脑瘤或急性髓系白血病，都是严重的并发症。1例15岁女性Maffucci综合征患者发生B细胞前体急性淋巴细胞白血病(BCP-ALL)。在血管瘤和白血病细胞中检测到IDH1的体细胞突变。在白血病细胞中检测到KRAS突变和IKZF1缺失。因此，患有Maffucci综合征的患者可能面临BCP的风险-所有这些患者都与影响淋巴细胞分化的次级遗传事件相关。
Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. KRAS mutation and deletion of IKZF1 were detected in leukemic cells. Patients with Maffucci syndrome may, therefore, be at risk of BCP-ALL associated with secondary genetic events that affect lymphocyte differentiation.