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Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.
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.
Afiliación
  • Hirabayashi S; Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
  • Seki M; Department of Pediatrics, University of Tokyo, Tokyo, Japan.
  • Hasegawa D; Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
  • Kato M; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Hyakuna N; Center of Bone Marrow Transplantation, Ryukyu University Hospital, Okinawa, Japan.
  • Shuo T; Institute for Medical Innovation, St. Luke's International University, Tokyo, Japan.
  • Kimura S; Department of Pediatrics, University of Tokyo, Tokyo, Japan.
  • Yoshida K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Kataoka K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Fujii Y; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Shiraishi Y; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
  • Chiba K; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
  • Tanaka H; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
  • Kiyokawa N; Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Miyano S; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
  • Ogawa S; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Takita J; Department of Pediatrics, University of Tokyo, Tokyo, Japan.
  • Manabe A; Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
Pediatr Blood Cancer ; 64(12)2017 Dec.
Article en En | MEDLINE | ID: mdl-28544751
ABSTRACT
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Leucemia-Linfoma Linfoblástico de Células Precursoras B / Encondromatosis Límite: Adolescent / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Leucemia-Linfoma Linfoblástico de Células Precursoras B / Encondromatosis Límite: Adolescent / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article