Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.

ABSTRACT: Germline mutations in ETV6 have been associated with thrombocytopenia and predisposition to hematological malignancies. Here, we report a pedigree with a multiple family member with an ETV6 c.1127T > A (p.Leu376Gln) variant, initially classified as a variant of uncertain significance (VUS), found to be segregating with thrombocytopenia and hematological/solid tumor malignancies. The proband, a 63-year-old male with chronic thrombocytopenia and a family history of hematological malignancies, presented with pancytopenia and was diagnosed as myelodysplastic syndrome (MDS). Next generation sequencing (NGS) from the bone marrow revealed the ETV6 c.1127T > A (p.Leu376Gln) variant with a variant allele frequency (VAF) of 46%. Germline testing on skin fibroblasts confirmed the presence of the same

SUBMITTER: Rajendra Kurup A 

PROVIDER: S-EPMC12552381 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature