GLI1, CDK4, and MDM2 Co-Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review

Abstract

Plexiform fibromyxoma (PF) is a rare mesenchymal tumor that primarily occurs in gastric origin with a benign behavior. PF commonly harbors the MALAT1::GLI1 fusion gene. Here, we describe a case of a 36-year-old female with a PF. Abdominal computed tomography (CT) showed a 3.3 cm mass in the stomach. She underwent laparoscopic partial gastrectomy. Immunohistochemistry (IHC) of the tumor revealed strongly positive staining for CD34, SDHB, STAT6, MDM2, and CDK4. And the tumor showed TP53 mutant expression. Next-generation sequencing (NGS) comprehensive genomic profiling identified GLI1, CDK4, and MDM2 co-amplification and TP53 mutations. Here, we first report a case of a young woman with a PF harboring co-amplification of GLI1, CDK4, and MDM2 genes. The patient underwent complete removal of the tumor without the use of radiotherapy or chemotherapy. No recurrence was observed during the follow-up period of 8 months. This study aims to improve our understanding of PF by analyzing the clinicopathological characteristics of this case, including immunohistochemical (IHC) and genetic examination, and reviewing relevant literature.