Germline heterozygous SH2B3-mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation

Gaël Vermeersch; Timothy Devos; Helena Devos; Frédéric Lambert; Bruce Poppe; Sam Van Hecke

doi:10.1002/jha2.800

Germline heterozygous SH2B3-mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation

EJHaem. 2023 Oct 27;4(4):1143-1147. doi: 10.1002/jha2.800. eCollection 2023 Nov.

Authors

Gaël Vermeersch^{1

2}, Timothy Devos^{1

3}, Helena Devos⁴, Frédéric Lambert⁵, Bruce Poppe⁶, Sam Van Hecke²

Affiliations

¹ Department of Hematology University Hospitals Leuven Leuven Belgium.
² Department of Hematology AZ Damiaan Ostend Belgium.
³ Department of Microbiology and Immunology Laboratory of Molecular Immunology (Rega Institute), KU Leuven Leuven Belgium.
⁴ Department of Laboratory Hematology AZ Sint-Jan Brugge-Oostende AV Bruges Belgium.
⁵ Center for Human Genetic, Molecular Hemato-Oncology Unit UniLab Liège, Centre Hospitalier Universitaire de Liège Liège Belgium.
⁶ Center for Medical Genetics Ghent University Hospital Ghent Belgium.

Abstract

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.

Keywords: erythrocytosis; idiopathic erythrocytosis; myeloid function and development; myeloproliferative disorder.

Publication types

Case Reports