erythrocytosis; idiopathic erythrocytosis; myeloid function and development; myeloproliferative disorder
Abstract :
[en] Erythrocytosis or polycythemia refers to a true or apparent increase in hemoglobin or hematocrit. When no etiology of erythrocytosis is identified, people are diagnosed with "idiopathic erythrocytosis" (IE). The identification of new contributing genes has recently improved the diagnostic workup of IE. As such mutations within the SH2B3 gene, which codes for the LNK protein and negatively regulates the JAK-STAT pathway, have been identified in cases diagnosed as IE. This reports describes the presence of a previously undescribed germline SH2B3 variant p.(Thr335ArgfsTer4) within IE and emphasizes the advantages of gene panel sequencing as second step in the diagnostic work-up.
Disciplines :
Laboratory medicine & medical technology
Author, co-author :
Vermeersch, Gaël ; Department of Hematology University Hospitals Leuven Leuven Belgium ; Department of Hematology AZ Damiaan Ostend Belgium
Devos, Timothy ; Department of Hematology University Hospitals Leuven Leuven Belgium ; Department of Microbiology and Immunology Laboratory of Molecular Immunology (Rega Institute), KU Leuven Leuven Belgium
Devos, Helena; Department of Laboratory Hematology AZ Sint-Jan Brugge-Oostende AV Bruges Belgium
Lambert, Frédéric ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques
Poppe, Bruce ; Center for Medical Genetics Ghent University Hospital Ghent Belgium
Van Hecke, Sam; Department of Hematology AZ Damiaan Ostend Belgium
Language :
English
Title :
Germline heterozygous SH2B3-mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation.
