International Journal of Hematology

DOI: 10.1007/s12185-017-2258-5 Pages: 183-188

Myeloid neoplasms with germ line RUNX1 mutation

1. Tokyo University of Pharmacy and Life Sciences, Laboratory of Oncology, School of Life Science

2. Cincinnati Children’s Hospital Medical Center, Divisions of Pathology and Experimental Hematology and Cancer Biology

3. Bunkyo Gakuin University, Department of Clinical Laboratory Medicine, Faculty of Health Science Technology

Correspondence to:
Hironori Harada
Tel: +81-42-676-7121



Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about half of individuals in the family with germ line mutations in RUNX1 develop overt hematological malignancies. The latency is also relatively long as an average age at diagnosis is more than 30 years. Similar to what is observed in sporadic hematological malignancies, acquired additional genetic events cooperate with inherited RUNX1 mutations to progress the overt malignant phase. Reflecting recent increased awareness of hematological malignancies with germ line mutations, FPD/AML was added in the revised WHO 2016 classification. In this review, we provide an update on FPD/AML with recent clinical and experimental findings.

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