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

Shihui Zhang, Ye Yang, Jianwei Li, Zheng Li, Weihua Li, Susheng Shi

Author Information

Shihui Zhang: Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. ORCID
Ye Yang: Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Jianwei Li: Department of Diagnostic Radiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Zheng Li: Department of Pancreatic and Gastric Surgical Oncology, National Cancer Center/National Clinical Research for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Weihua Li: Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Susheng Shi: Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

PMID: 39535850 DOI: 10.1002/gcc.70005

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.

fibromyxoma gastrointestinal mesenchymal neoplasm plexiform

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Humans

Female

Proto-Oncogene Proteins c-mdm2

Adult

Cyclin-Dependent Kinase 4

Stomach Neoplasms

Zinc Finger Protein GLI1

Fibroma

Gene Amplification

Proto-Oncogene Proteins c-mdm2

Cyclin-Dependent Kinase 4

CDK4 protein, human

MDM2 protein, human

Zinc Finger Protein GLI1

GLI1 protein, human

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