GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions.

ABSTRACT: GLI1 fusions involving ACTB, MALAT1, and PTCH1 genes have been recently reported in a subset of malignant soft tissue tumors with characteristic monomorphic nested epithelioid morphology and frequent S100 positivity. However, we encountered a group of morphologically similar soft tissue tumors lacking the canonical GLI1 gene fusions and sought to investigate their genetic abnormalities. A combined approach including RNA sequencing, targeted exome sequencing and FISH methodologies were used to identify potential novel genetic abnormalities. Ten patients (five females, five males) with an age range of 4-65 years (median 32.5) were identified. Tumors were located in the soft tissues of the limbs, trunk and head and neck, with one each in the tongue and lung. Histologically, tumors revealed ov

SUBMITTER: Agaram NP 

PROVIDER: S-EPMC6821565 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature