Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia

Shinsuke Hirabayashi; Masafumi Seki; Daisuke Hasegawa; Motohiro Kato; Nobuyuki Hyakuna; Takuya Shuo; Shunsuke Kimura; Kenichi Yoshida; Keisuke Kataoka; Yoichi Fujii; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Nobutaka Kiyokawa; Satoru Miyano; Seishi Ogawa; Junko Takita; Atsushi Manabe

doi:10.1002/pbc.26647

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia

Shinsuke Hirabayashi, Masafumi Seki, Daisuke Hasegawa, Motohiro Kato, Nobuyuki Hyakuna, Takuya Shuo, Shunsuke Kimura, Kenichi Yoshida, Keisuke Kataoka, Yoichi Fujii, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Nobutaka Kiyokawa, Satoru Miyano, Seishi Ogawa, Junko Takita, Atsushi Manabe

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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.

Original language	English
Article number	e26647
Journal	Pediatric Blood and Cancer
Volume	64
Issue number	12
DOIs	https://doi.org/10.1002/pbc.26647
Publication status	Published - 2017 Dec
Externally published	Yes

Keywords

acute lymphoblastic leukemia
IDH1
IKZF1
KRAS
Maffucci syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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Hirabayashi, S., Seki, M., Hasegawa, D., Kato, M., Hyakuna, N., Shuo, T., Kimura, S., Yoshida, K., Kataoka, K., Fujii, Y., Shiraishi, Y., Chiba, K., Tanaka, H., Kiyokawa, N., Miyano, S., Ogawa, S., Takita, J., & Manabe, A. (2017). Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia. Pediatric Blood and Cancer, 64(12), [e26647]. https://doi.org/10.1002/pbc.26647

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.

In: Pediatric Blood and Cancer, Vol. 64, No. 12, e26647, 12.2017.

Research output: Contribution to journal › Article › peer-review

Hirabayashi, S, Seki, M, Hasegawa, D, Kato, M, Hyakuna, N, Shuo, T, Kimura, S, Yoshida, K, Kataoka, K, Fujii, Y, Shiraishi, Y, Chiba, K, Tanaka, H, Kiyokawa, N, Miyano, S, Ogawa, S, Takita, J & Manabe, A 2017, 'Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia', Pediatric Blood and Cancer, vol. 64, no. 12, e26647. https://doi.org/10.1002/pbc.26647

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. / Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia. In: Pediatric Blood and Cancer. 2017 ; Vol. 64, No. 12.

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title = "Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia",

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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author = "Shinsuke Hirabayashi and Masafumi Seki and Daisuke Hasegawa and Motohiro Kato and Nobuyuki Hyakuna and Takuya Shuo and Shunsuke Kimura and Kenichi Yoshida and Keisuke Kataoka and Yoichi Fujii and Yuichi Shiraishi and Kenichi Chiba and Hiroko Tanaka and Nobutaka Kiyokawa and Satoru Miyano and Seishi Ogawa and Junko Takita and Atsushi Manabe",

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T1 - Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia

AU - Hirabayashi, Shinsuke

AU - Seki, Masafumi

AU - Hasegawa, Daisuke

AU - Kato, Motohiro

AU - Hyakuna, Nobuyuki

AU - Shuo, Takuya

AU - Kimura, Shunsuke

AU - Yoshida, Kenichi

AU - Kataoka, Keisuke

AU - Fujii, Yoichi

AU - Shiraishi, Yuichi

AU - Chiba, Kenichi

AU - Tanaka, Hiroko

AU - Kiyokawa, Nobutaka

AU - Miyano, Satoru

AU - Ogawa, Seishi

AU - Takita, Junko

AU - Manabe, Atsushi

N1 - Funding Information: This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants-in-Aid for Scientific Research (KAK-ENHI) with grant number 16K21376.

PY - 2017/12

Y1 - 2017/12

N2 - 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.

AB - 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.

KW - acute lymphoblastic leukemia

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KW - IKZF1

KW - KRAS

KW - Maffucci syndrome

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