Germline variants in patients diagnosed with pediatric soft tissue sarcoma.

ABSTRACT:

Background

While soft tissue sarcomas affect younger patients, few studies have assessed the distribution of underlying pathogenic germline variants.

Patients and methods

We retrospectively identified all pediatric and young adult patients (0-22 years) at Haukeland University Hospital, Norway (1981-2019), through clinical and pathological records. We identified n = 46 eligible patients. From these 46 patients, adequate material representing normal tissue was available for n = 41 cases (n = 24 diagnosed with rhabdomyosarcoma, 9 with synovial sarcomas, 2 with Ewing sarcomas, and 6 without further classification), with matching tumor tissue for n = 40. Normal tissue samples were analyzed for germline pathogenic variants (PVs) by targeted sequencing of 360 cancer genes.

Resul

SUBMITTER: Yndestad S 

PROVIDER: S-EPMC11332449 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature