ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia

ANKRD26-related thrombocytopenia is a rare inherited disorder associated with an increased risk of malignancy. While the genetic mutations underlying this condition are well understood, there is limited knowledge regarding its contribution to myeloid neoplasms, such as acute myeloid leukemia (AML)....

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Detalles Bibliográficos
Autores principales: McCormick, Benjamin J, Chirila, Razvan M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101738/
https://www.ncbi.nlm.nih.gov/pubmed/37065357
http://dx.doi.org/10.7759/cureus.36152
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author McCormick, Benjamin J
Chirila, Razvan M
author_facet McCormick, Benjamin J
Chirila, Razvan M
author_sort McCormick, Benjamin J
collection PubMed
description ANKRD26-related thrombocytopenia is a rare inherited disorder associated with an increased risk of malignancy. While the genetic mutations underlying this condition are well understood, there is limited knowledge regarding its contribution to myeloid neoplasms, such as acute myeloid leukemia (AML). We present a case of ANKRD26-related thrombocytopenia with a variant of uncertain significance in a patient with AML and review the pathogenesis and implications of hereditary germline mutations in disease management.
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spelling pubmed-101017382023-04-14 ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia McCormick, Benjamin J Chirila, Razvan M Cureus Genetics ANKRD26-related thrombocytopenia is a rare inherited disorder associated with an increased risk of malignancy. While the genetic mutations underlying this condition are well understood, there is limited knowledge regarding its contribution to myeloid neoplasms, such as acute myeloid leukemia (AML). We present a case of ANKRD26-related thrombocytopenia with a variant of uncertain significance in a patient with AML and review the pathogenesis and implications of hereditary germline mutations in disease management. Cureus 2023-03-14 /pmc/articles/PMC10101738/ /pubmed/37065357 http://dx.doi.org/10.7759/cureus.36152 Text en Copyright © 2023, McCormick et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
McCormick, Benjamin J
Chirila, Razvan M
ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title_full ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title_fullStr ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title_full_unstemmed ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title_short ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
title_sort ankrd26 gene variant of uncertain significance in a patient with acute myeloid leukemia
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101738/
https://www.ncbi.nlm.nih.gov/pubmed/37065357
http://dx.doi.org/10.7759/cureus.36152
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AT chirilarazvanm ankrd26genevariantofuncertainsignificanceinapatientwithacutemyeloidleukemia

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