PRRX-NCOA1/2 rearrangement characterizes a distinctive fibroblastic neoplasm.

ABSTRACT: Fibroblastic/myofibroblastic neoplasms represent a broad, and occasionally diagnostically challenging, category of soft tissue neoplasms. A subset of these tumors defy conventional classification. However, with the advent of next-generation sequencing, the identification of disease-defining molecular alterations is gradually improving their subclassification. Following identification of two index cases of a distinctive fibroblastic neoplasm with a fusion gene involving PRRX1 and NCOA1, we performed a retrospective review to further characterize this entity. We identified two additional cases, including one with a fusion between PRRX1 and NCOA2. The average patient age was 38 years, and three patients were female. Two tumors occurred on the neck, and the others involved the groin and thigh.

SUBMITTER: Lacambra MD 

PROVIDER: S-EPMC7104602 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature