Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

ABSTRACT: Myeloid neoplasms (MN) with germline predisposition (MNGP) are likely to be more common than currently appreciated. Many of the genes involved in MNGP are also recurrently mutated in sporadic MN. Therefore, routine analysis of gene panels by next-generation sequencing provides an effective approach to detect germline variants with clinical significance in patients with hematological malignancies. Gene panel sequencing was performed in 88 consecutive and five nonconsecutive patients with MN diagnosis. Disease-causing germline mutations in CEBPα, ASXL1, TP53, MPL, GATA2, DDX41, and ETV6 genes were identified in nine patients. Six out of the nine patients with germline variants had a strong family history. These patients presented great heterogeneity in the age of diagnosis and phenotypic cha

SUBMITTER: Andres-Zayas C 

PROVIDER: S-EPMC8410541 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature