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Article

Unrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.

International journal of hematology - 1 Sept 2023

Toratani Kazunori, Watanabe Mizuki, Kanda Junya, Oka Tomomi, Hyuga Mizuki, Arai Yasuyuki, Iwasaki Makoto, Sakurada Maki, Nannya Yasuhito, Ogawa Seishi, Yamada Takahiro, Takaori-Kondo Akifumi

Abstract excerpt

Germline mutations in RUNX1 result in rare autosomal-dominant familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). As genetic analysis is becoming increasingly prevalent, the diagnosis rate of FPD/AML is expected to increase. In this report, we present two pedigrees, one diagnosed molecularly and another highly suspected to be FPD/AML, whose members both received allogeneic...

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PMID: 36897502
DOI: 10.1007/s12185-023-03575-1

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