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Updated: Aug 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
Benjamin J McCormick1, Razvan M Chirila1
1Internal Medicine, Mayo Clinic, Jacksonville, USA.
Abstract:
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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