Hirabayashi Shinsuke, Seki Masafumi, Hasegawa Daisuke, Kato Motohiro, Hyakuna Nobuyuki, Shuo Takuya, Kimura Shunsuke, Yoshida Kenichi, Kataoka Keisuke, Fujii Yoichi, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Kiyokawa Nobutaka, Miyano Satoru, Ogawa Seishi, Takita Junko, Manabe Atsushi
Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
Department of Pediatrics, University of Tokyo, Tokyo, Japan.
Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26647. Epub 2017 May 24.
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.
马富西综合征是一种由体细胞镶嵌异柠檬酸脱氢酶1或2（IDH1或IDH2）突变引起的非遗传性疾病，其特征是多发性内生软骨瘤伴发血管瘤。内生软骨瘤恶变为软骨肉瘤以及继发性肿瘤，如脑肿瘤或急性髓系白血病，是严重的并发症。一名患有马富西综合征的15岁女性发生了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，患有马富西综合征的患者可能有患BCP-ALL的风险，这与影响淋巴细胞分化的继发性遗传事件有关。
