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dc.contributor.author
De Rocco, Daniela  
dc.contributor.author
Melazzini, Federica  
dc.contributor.author
Marconi, Caterina  
dc.contributor.author
Pecci, Alessandro  
dc.contributor.author
Bottega, Roberta  
dc.contributor.author
Gnan, Chiara  
dc.contributor.author
Palombo, Flavia  
dc.contributor.author
Giordano, Paola Florencia  
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Coccioli, Maria Susanna  
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Glembotsky, Ana Claudia  
dc.contributor.author
Heller, Paula Graciela  
dc.contributor.author
Seri, Marco  
dc.contributor.author
Savoia, Anna  
dc.contributor.author
Noris, Patrizia  
dc.date.available
2018-06-05T13:28:19Z  
dc.date.issued
2017-06  
dc.identifier.citation
De Rocco, Daniela; Melazzini, Federica; Marconi, Caterina; Pecci, Alessandro; Bottega, Roberta; et al.; Mutations of RUNX1 in families with inherited thrombocytopenia; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Hematology; 92; 6; 6-2017; E86-E88  
dc.identifier.issn
0361-8609  
dc.identifier.uri
http://hdl.handle.net/11336/47276  
dc.description.abstract
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is a rare autosomal dominant form of thrombocytopenia associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia (AML) caused by germline mutations in the hematopoietic transcription factor RUNX1. Molecular testing allowed us to identify mutations in 13 individuals from three families with inherited thrombocytopenia (IT). They had thrombocytopenia with platelet normal volume and variable expressivity of other morphological and functional defects of platelets, such as reduction of alpha-granules and expression of GPIa-IIa, decreased aggregation, increased level of serum thrombopoietin. In this cohort, only three patients developed AML, with an incidence relative lower than that reported in literature. Since this discrepancy could be explained by different criteria of enrolment (RUNX1 is regarded as a candidate gene only when thrombocytopenia is associated with AML), a systematic screening of RUNX1 in IT families would allow us to identify carriers and more precisely determine the leukemic risk. Yet, considering that recognition of families with FPD/AML is of fundamental importance in the choice of donors for hematopoietic stem cell transplantation, current recommendation includes molecular genetic testing of genes (RUNX1 but also ANKRD26, and ETV6) whose mutations not only are responsible for thrombocytopenia with normal platelet volume but also increase the risk of hematological cancers.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Wiley-liss, Div John Wiley & Sons Inc  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
Runx1  
dc.subject
Fpd/Aml  
dc.subject
Inherited Thrombocytopenia  
dc.subject
Leukemia  
dc.subject.classification
Medicina Critica y de Emergencia  
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Medicina Clínica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Mutations of RUNX1 in families with inherited thrombocytopenia  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2018-06-04T17:04:42Z  
dc.journal.volume
92  
dc.journal.number
6  
dc.journal.pagination
E86-E88  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
Nueva York  
dc.description.fil
Fil: De Rocco, Daniela. Institute for Maternal and Child Healt; Italia  
dc.description.fil
Fil: Melazzini, Federica. Policlinico San Matteo Foundation; Italia. University of Pavia; Italia  
dc.description.fil
Fil: Marconi, Caterina. Universidad de Bologna; Italia  
dc.description.fil
Fil: Pecci, Alessandro. Policlinico San Matteo Foundation; Italia. University of Pavia; Italia  
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Fil: Bottega, Roberta. Università degli Studi di Trieste; Italia  
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Fil: Gnan, Chiara. Institute for Maternal and Child Healt; Italia  
dc.description.fil
Fil: Palombo, Flavia. Universidad de Bologna; Italia  
dc.description.fil
Fil: Giordano, Paola Florencia. Universita Degli Studi Di Bari; Italia  
dc.description.fil
Fil: Coccioli, Maria Susanna. Hospital “D. Camberlingo; Italia  
dc.description.fil
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina  
dc.description.fil
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina  
dc.description.fil
Fil: Seri, Marco. Universidad de Bologna; Italia  
dc.description.fil
Fil: Savoia, Anna. Università degli Studi di Trieste; Italia. Institute for Maternal and Child Healt; Italia  
dc.description.fil
Fil: Noris, Patrizia. University of Pavia; Italia  
dc.journal.title
American Journal Of Hematology  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1002/ajh.24703  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.24703