TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.

ABSTRACT: BACKGROUND:The occurrence of a mediastinal germ cell tumor (GCT) and hematological malignancy in the same patient is very rare. Due to its rarity, there have been only two reports of the concurrent cases undergoing detailed genetic analysis with whole-exome sequencing (WES), and the possible clonal relationship between the both tumors remained not fully elucidated. METHODS:We performed whole-exome sequencing analysis of mediastinal GCT and acute myeloid leukemia (AML) samples obtained from one young Japanese male adult patient with concurrent both tumors, and investigated the possible clonal relationship between them. RESULTS:Sixteen somatic mutations were detected in the mediastinal GCT sample and 18 somatic mutations in the AML sample. Mutations in nine genes, including TP53 and PTEN bot

SUBMITTER: Akizuki K 

PROVIDER: S-EPMC6941398 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature