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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)....
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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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 |
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. |
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