Cited by 17IgG4-Related and Inflammatory DiseasesGastrointestinal Tumor Research and TreatmentSoft tissue tumor case studies

Double amplifications of CDK4 and MDM2 in a gastric inflammatory myofibroblastic tumor mimicking cancer with local invasion of the spleen and diaphragm

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He, Jia, Zhao, Xinyi, Huang, Cheng, Zhou, Xiaoyun, You, Yan, Zhang, Lu, Lu, Chongmei, Yao, Fang +1 more·2018·Cancer Biology & Therapy

Abstract

Inflammatory myofibroblastic tumor (IMT) is currently recognized as an intermediate mesenchymal neoplasm. It can arise anywhere in the body, but it is particularly common in the lungs. Gastric IMT is very rare in adults. In this study, we report a case of a 68-year-old woman with IMT in the gastric cardia, with invasion into the spleen and diaphragm. Because of its location and aggressive clinical features, it was first mistaken for gastric cancer. However, pathology and immunohistochemistry were used to finally confirm the diagnosis of IMT after total resection of the tumor and spleen and partial resection of the diaphragm. In order to provide better understanding of this rare tumor, targeted next-generation sequencing (NGS) and IHC were performed to assess genetic and protein abnormalities of the tumor. Both IHC and NGS were found to be negative for ALK or other gene fusions. However, double amplification of CDK4 and MDM2 were found by NGS, and IHC also found CDK4 and MDM2 to be positive. To the best of our knowledge, this is the first gastric IMT report to show double invasion of the spleen and the diaphragm, and double amplification of CDK4 and MDM2 in IMT are also reported for the first time. This genomic aberration with protein overexpression is the most likely tumorigenic driver of this rare and aggressive tumor.

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Authors
He, J., Zhao, X., Huang, C., Zhou, X., You, Y., Zhang, L., Lu, C., Yao, F., & Li, S.
Affiliations
  • Peking Union Medical College Hospital (CN)
  • Tsinghua University (CN)
  • Burning Rock Biotech (China) (CN)
  • Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
Corresponding author
Li, Shanqing
Venue
Cancer Biology & Therapy
Published
2018-09-25
Volume
19
Issue
11
Pages
967-972
ISSN
  • 1538-4047 (ISSN-L)
  • 1555-8576
OpenAlex
W2894046989
Cited by
17
References
26
Citations by year
2026: 2 · 2025: 2 · 2024: 3 · 2023: 2 · 2022: 3 · 2021: 2 · 2019: 1 · 2018: 2
FWCI
1.07
Type
journal article
Language
en
Open access
Locations
  • Cancer Biology & Therapy (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
the CAMS Fundamental Research Fund for Central Public Welfare Research Institute (2017PT31009)
Topics
  • Health Sciences › Medicine › Rheumatology › IgG4-Related and Inflammatory Diseases
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
  • Health Sciences › Medicine › Rheumatology › Soft tissue tumor case studies
Keywords
inflammatory myofibroblastic tumor, gastric cardia, CDK4 amplification, MDM2 amplification, splenic invasion, diaphragmatic invasion, ALK-negative, immunohistochemistry, next-generation sequencing

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