Journal
SEMINARS IN HEMATOLOGY
Volume 54, Issue 2, Pages 75-80Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.seminhematol.2017.04.006
Keywords
RUNX1; Familial platelet disorder; Hereditary myeloid malignancies; Predisposition to leukemia
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Funding
- Cluster of Excellence REBIRTH (From Regenerative Biology to Reconstructive Therapy)
- German Research Foundation (DFG) [EXC 62/1]
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In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with (1) mild to moderate thrombocytopenia with normal-sized platelets; (2) functional platelets defects leading to prolonged bleeding; and (3) an increased risk to develop myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL). Hematological neoplasms in carriers of a germline RUNX1 mutation need additional secondary mutations or chromosome aberrations to develop. If a disease causing mutation is known in the family, it is important to prevent hematopoietic stem cell transplantation from a sibling or other relative carrying the familial mutation. First experiments introducing a wild-type copy of RUNX1 into induce pluripotent stem cells (iPSC) lines from patients with FPDMM appear to demonstrate that by gene correction reversal of the phenotype may be possible. (C) 2017 Published by Elsevier Inc.
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