Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

Autor:	Manja Meggendorfer, Torsten Haferlach, Nirsoshan Nadarajah, Sandra Weissmann, Christiane Eder, Susanne Schnittger, Claudia Haferlach, Sabine Jeromin, Alexander Kohlmann, Tamara Alpermann, Wolfgang Kern
Rok vydání:	2014
Předmět:	Spliceosome Myeloid Erythrocytes Abnormal Biology medicine.disease_cause hemic and lymphatic diseases medicine Humans Online Only Articles Gene Thrombocytosis Mutation Janus kinase 2 Myelodysplastic syndromes Anemia Refractory food and beverages Hematology Janus Kinase 2 Ribonucleoprotein U2 Small Nuclear Phosphoproteins medicine.disease Repressor Proteins medicine.anatomical_structure Refractory anemia with ring sideroblasts Spliceosomes biology.protein Cancer research RNA Splicing Factors
Zdroj:	Haematologica. 100:e125-e127
ISSN:	1592-8721 0390-6078
Popis:	Refractory anemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a rare entity with characteristics of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN).[1][1] Patients have been shown to be frequently JAK2 V617F and SF3B1 , and less commonly MPL W515, mutated
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04cd5028236756e98a30d61d0322f4b1 https://doi.org/10.3324/haematol.2014.119032 Zobrazit plný text záznamu