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

Abstract 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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Catherine Tang, David J. Rabbolini, Marie‐Christine Morel‐Kopp, David E. Connor, Philip Crispin, Christopher M. Ward, William S. Stevenson
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2020
Materias:	familial platelet disorder familial platelet disorder with predisposition to myeloid malignancy hereditary myeloid malignancy inherited thrombocytopenia RUNX1 Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/4dfcad4aa97348fda0b8b902cc532171
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:4dfcad4aa97348fda0b8b902cc532171
record_format	dspace
spelling	oai:doaj.org-article:4dfcad4aa97348fda0b8b902cc5321712021-11-15T06:10:44ZThe clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature2475-037910.1002/rth2.12282https://doaj.org/article/4dfcad4aa97348fda0b8b902cc5321712020-01-01T00:00:00Zhttps://doi.org/10.1002/rth2.12282https://doaj.org/toc/2475-0379Abstract 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.Catherine TangDavid J. RabboliniMarie‐Christine Morel‐KoppDavid E. ConnorPhilip CrispinChristopher M. WardWilliam S. StevensonWileyarticlefamilial platelet disorderfamilial platelet disorder with predisposition to myeloid malignancyhereditary myeloid malignancyinherited thrombocytopeniaRUNX1Diseases of the blood and blood-forming organsRC633-647.5ENResearch and Practice in Thrombosis and Haemostasis, Vol 4, Iss 1, Pp 106-110 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	familial platelet disorder familial platelet disorder with predisposition to myeloid malignancy hereditary myeloid malignancy inherited thrombocytopenia RUNX1 Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	familial platelet disorder familial platelet disorder with predisposition to myeloid malignancy hereditary myeloid malignancy inherited thrombocytopenia RUNX1 Diseases of the blood and blood-forming organs RC633-647.5 Catherine Tang David J. Rabbolini Marie‐Christine Morel‐Kopp David E. Connor Philip Crispin Christopher M. Ward William S. Stevenson The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
description	Abstract 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.
format	article
author	Catherine Tang David J. Rabbolini Marie‐Christine Morel‐Kopp David E. Connor Philip Crispin Christopher M. Ward William S. Stevenson
author_facet	Catherine Tang David J. Rabbolini Marie‐Christine Morel‐Kopp David E. Connor Philip Crispin Christopher M. Ward William S. Stevenson
author_sort	Catherine Tang
title	The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
title_short	The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
title_full	The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
title_fullStr	The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
title_full_unstemmed	The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
title_sort	clinical heterogeneity of runx1 associated familial platelet disorder with predisposition to myeloid malignancy – a case series and review of the literature
publisher	Wiley
publishDate	2020
url	https://doaj.org/article/4dfcad4aa97348fda0b8b902cc532171
work_keys_str_mv	AT catherinetang theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT davidjrabbolini theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT mariechristinemorelkopp theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT davideconnor theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT philipcrispin theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT christophermward theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT williamsstevenson theclinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT catherinetang clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT davidjrabbolini clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT mariechristinemorelkopp clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT davideconnor clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT philipcrispin clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT christophermward clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature AT williamsstevenson clinicalheterogeneityofrunx1associatedfamilialplateletdisorderwithpredispositiontomyeloidmalignancyacaseseriesandreviewoftheliterature
_version_	1718428551131168768

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

Ejemplares similares