Germline Heterozygous SH2B3-mutations and (idiopathic) Erythrocytosis: Detection of a Previously Undescribed Mutation

Overview

Journal EJHaem

Specialty Hematology

Date 2023 Nov 29

PMID 38024597

Authors

Gael Vermeersch

Timothy Devos

Helena Devos

Frederic Lambert

Bruce Poppe

Sam Van Hecke

Affiliations

Soon will be listed here.

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 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 variant p.(Thr335ArgfsTer4) within IE and emphasizes the advantages of gene panel sequencing as second step in the diagnostic work-up.

Citing Articles

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

Vermeersch G, Devos T, Devos H, Lambert F, Poppe B, Van Hecke S EJHaem. 2023; 4(4):1143-1147.

PMID: 38024597 PMC: 10660405. DOI: 10.1002/jha2.800.

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Vermeersch G, Devos T, Devos H, Lambert F, Poppe B, Van Hecke S . Germline heterozygous SH2B3-mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation. EJHaem. 2023; 4(4):1143-1147. PMC: 10660405. DOI: 10.1002/jha2.800. View

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