Somatic Next Generation Sequencing Panels Identify Potentially Pathogenic Germline Variants in Genes Associated with Hereditary Myeloid Malignancies

Hereditary myeloid malignancy syndromes (HMMS) predispose to myelodysplastic syndrome, leukemias, myeloproliferative neoplasms, and bone marrow failure. Genes whose germline variants are implicated in HMMS are often included in next generation sequencing (NGS) panels designed to detect somatic mutations and guide prognostication. These panels cannot distinguish germline mutations from somatic mutations when analyzing DNA derived from leukemia cells. We hypothesized that a 53 gene NGS panel ordered for assessment of mutations in newly diagnosed hematologic malignancies could identify patients with germline mutations causative of HMMS.

Source: Clinical Lymphoma, Myeloma and Leukemia - August 26, 2016 Category: Hematology Authors: Michael Drazer, Allison West, Madina Sukhanova, Simone Feurstein, Matthew Jones, Jeremy Segal, Jane Churpeck, Lucy Godley Source Type: research