The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature

Germline mutations of runt‐related transcription factor‐1 (RUNX1) cause familial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms. A key clinical question is which patients with a family hi...

Full description

Saved in:
Bibliographic Details
Published in:Research and practice in thrombosis and haemostasis 2020-01, Vol.4 (1), p.106-110
Main Authors: Tang, Catherine, Rabbolini, David J., Morel‐Kopp, Marie‐Christine, Connor, David E., Crispin, Philip, Ward, Christopher M., Stevenson, William S.
Format: Article
Language:English
Subjects:
Age
Blood platelets
Bone marrow
Case Report
Chemotherapy
familial platelet disorder
familial platelet disorder with predisposition to myeloid malignancy
hereditary myeloid malignancy
inherited thrombocytopenia
Leukemia
Lymphatic system
Lymphoma
Mutation
Original : Hemostasis
Patients
RUNX1
Surveillance
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Germline mutations of runt‐related transcription factor‐1 (RUNX1) cause familial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms. A key clinical question is which patients with a family history of thrombocytopenia should undergo genetic testing for RUNX1 mutations. Typically, molecular diagnosis by genetic sequencing is performed when the clinical phenotype is suggestive of this diagnosis; however, our understanding of the spectrum of associated features suggestive of this diagnosis continues to evolve. Herein, we report a case series of 3 unrelated families with RUNX1‐associated FPDMM and clinical phenotypes not typically reported with this condition. These cases expand our understanding of FPDMM and highlight the complexity of transcriptional regulation of hematopoiesis and its potentially diverse phenotypes. We describe our approach to diagnosis and management of these individuals and the importance of long‐term surveillance in these cases.
ISSN:2475-0379
2475-0379
DOI:10.1002/rth2.12282