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dc.contributor.author Király, Péter Attila
dc.contributor.author Kallay K,
dc.contributor.author Marosvári, Dóra
dc.contributor.author Benyo G,
dc.contributor.author Szoke A,
dc.contributor.author Csomor, Judit
dc.contributor.author Bödör, Csaba
dc.date.accessioned 2018-09-24T07:56:02Z
dc.date.available 2018-09-24T07:56:02Z
dc.date.issued 2016
dc.identifier.citation pagination=283-289; journalVolume=157; journalIssueNumber=8; journalTitle=ORVOSI HETILAP;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/5871
dc.identifier.uri doi:10.1556/650.2016.30375
dc.description.abstract Myelodysplastic syndrome and acute myeloid leukaemia are mainly sporadic diseases, however, rare familial cases exist. These disorders are considered rare, but are likely to be more common than currently appreciated, and are characterized by the autosomal dominant mutations of hematopoietic transcription factors. These syndromes have typical phenotypic features and are associated with an increased risk for developing overt malignancy. Currently, four recognized syndromes could be separated: familial acute myeloid leukemia with mutated CEBPA, familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2, familial platelet disorder with propensity to myeloid malignancy with RUNX1 mutations, and telomere biology disorders due to mutations of TERC or TERT. Furthermore, there are new, emerging syndromes associated with germline mutations in novel genes including ANKRD26, ETV6, SRP72 or DDX41. This review will discuss the current understanding of the genetic basis and clinical presentation of familial leukemia and myelodysplasia. Orv. Hetil., 2016, 157(8), 283-289.
dc.relation.ispartof urn:issn:0030-6002
dc.title Familiáris myelodysplasiás szindróma és akut myeloid leukaemia klinikai és genetikai háttere
dc.type Journal Article
dc.date.updated 2018-07-17T10:17:21Z
dc.language.rfc3066 hu
dc.identifier.mtmt 3023094
dc.identifier.wos 000369958800001
dc.identifier.pubmed 26876264
dc.contributor.department SE/AOK/I/ISZPKRI/MTA-SE Lendület Molekuláris Onkohematológia Kutatócsoport
dc.contributor.department SE/AOK/I/I. Sz. Patológiai és Kísérleti Rákkutató Intézet
dc.contributor.institution Semmelweis Egyetem


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