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Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660405/ https://www.ncbi.nlm.nih.gov/pubmed/38024597 http://dx.doi.org/10.1002/jha2.800 |
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author | Vermeersch, Gaël Devos, Timothy Devos, Helena Lambert, Frédéric Poppe, Bruce Van Hecke, Sam |
author_facet | Vermeersch, Gaël Devos, Timothy Devos, Helena Lambert, Frédéric Poppe, Bruce Van Hecke, Sam |
author_sort | Vermeersch, Gaël |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10660405 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106604052023-10-27 Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation Vermeersch, Gaël Devos, Timothy Devos, Helena Lambert, Frédéric Poppe, Bruce Van Hecke, Sam EJHaem Case Reports 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. John Wiley and Sons Inc. 2023-10-27 /pmc/articles/PMC10660405/ /pubmed/38024597 http://dx.doi.org/10.1002/jha2.800 Text en © 2023 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Vermeersch, Gaël Devos, Timothy Devos, Helena Lambert, Frédéric Poppe, Bruce Van Hecke, Sam Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title | Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title_full | Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title_fullStr | Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title_full_unstemmed | Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title_short | Germline heterozygous SH2B3‐mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation |
title_sort | germline heterozygous sh2b3‐mutations and (idiopathic) erythrocytosis: detection of a previously undescribed mutation |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660405/ https://www.ncbi.nlm.nih.gov/pubmed/38024597 http://dx.doi.org/10.1002/jha2.800 |
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