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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:
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
Descripción
Sumario: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.