Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

ABSTRACT: Systematic studies of germ line genetic predisposition to myeloid neoplasms in adult patients are still limited. In this work, we performed germ line and somatic targeted sequencing in a cohort of adult patients with hypoplastic bone marrow (BM) to study germ line predisposition variants and their clinical correlates. The study population included 402 consecutive adult patients investigated for unexplained cytopenia and reduced age-adjusted BM cellularity. Germ line mutation analysis was performed using a panel of 60 genes, and variants were interpreted per the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines; somatic mutation analysis was performed using a panel of 54 genes. Of the 402 patients, 27 (6.7%) carried germ line variants that caus

SUBMITTER: Molteni E 

PROVIDER: S-EPMC10644067 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature