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A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

¹ Department of Hematology, University of Yamanashi, Chuo-shi, Yamanashi
² Division of Neurology, Department of Internal Medicine, Jichi Medical University, Shimotuke, Tochigi, Japan.
³ Department of Medicine, Division of Hematology/Oncology University of California, San Diego, CA, USA

Correspondence: Norio Komatsu M.D., Ph.D., Department of Hematology, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, Japan 409-3898. Phone: international +81.55.2739432. Fax: international +81.55.2731274. E-mail: komatsun{at}yamanashi.ac.jp

We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

Key words: RUNX1, acute myeloid leukemia, FPD/MM.