Case report: ATM A1159T mutation in malignant peritoneal mesothelioma may be associated with tumor recurrence

Our plain-English summary of Case report: ATM A1159T mutation in malignant peritoneal mesothelioma may be associated with tumor recurrence, by Y. Li, J. Yang, B. Zheng, et al (SAGE Open Medical Case Reports, 2024).

The study

• Authors: Y. Li, J. Yang, B. Zheng, N. Yan, W. Yang, X. Xie, G. Xu, M. Zhang
• Journal: SAGE Open Medical Case Reports
• Published: 2024;12:2050313X241271818
• Type of article: Case report
• Read it: PubMed · Publisher · Free full text

Abstract

Malignant peritoneal mesothelioma is an exceedingly rare malignant tumor. Herein, we present a case of malignant peritoneal mesothelioma in a 59-year-old Chinese female patient who was stable after treatment for multiple relapses. Imaging revealed massive ascites and an irregular thickening of the peritoneal mesangium. Laparoscopic biopsy revealed heterogeneous cell nests in the parietal peritoneal fibrous tissue, which were confirmed by immunohistochemical staining for Calretinin, WT-1, and D2-40. In terms of genetic screening, BAP1, CSF1R, and other key driver gene variants closely related to malignant peritoneal mesothelioma have been explored in tumor tissues. Notably, CARD11 driver mutation was first found in all malignant peritoneal mesothelioma patients, and ATM A1159T gene mutation found in recurrent focal tissue may be associated with recurrent tumor recurrence.

© The Author(s) 2024.

In plain English

This case report described one 59-year-old woman with malignant peritoneal mesothelioma treated at Tongde Hospital of Zhejiang Province, China. The article contradicts itself on asbestos. The case description said she had a history of asbestos exposure, but the discussion said it was later confirmed she had not been exposed to asbestos. She was diagnosed by laparoscopic biopsy in March 2017. She then received several courses of chemotherapy, two operations to remove recurrent tumor (May 2020 and March 2021), and later immunotherapy combined with chemotherapy. The authors reported her disease as currently stable. They sequenced DNA from the original tumor and from both recurrences, finding 230, 226 and 193 somatic gene changes respectively. Forty-eight genes were changed in all three, including BAP1 and CARD11. ATM gene changes were found in the two recurrent tumors. The authors concluded that the ATM A1159T mutation in the recurrent tumors may be related to the recurrence, which they said "is speculated". They added that whether CARD11 is related to this disease needs more research.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: case report (single patient, with whole-exome sequencing of the primary tumor and two recurrences)
• Who was studied: One 59-year-old woman with malignant peritoneal mesothelioma, treated at Tongde Hospital of Zhejiang Province, Hangzhou, China, from 2017 onward
• Exposure: The article is contradictory. The case presentation states a history of asbestos exposure; the discussion states it was confirmed after diagnosis that she had not been exposed to asbestos. No fiber type, product or job is given.
• Main results:
  • The patient had two recurrences after initial treatment, less than 1 year apart (samples FFPE-2020 and FFPE-2021).
  • Whole-exome sequencing found 230, 226 and 193 somatic gene variations in the primary tumor, the first recurrence and the second recurrence respectively, of which 12, 15 and 9 were driver mutations.
  • 48 mutated genes were common to all three tumor samples, including BAP1 and a shared CARD11 driver mutation.
  • ATM driver mutations were found in both recurrent tumors.
  • The pattern of DNA base changes differed between samples. The primary tumor was enriched in A to G, G to C and T to C changes; in the recurrent tumors, C to A changes were doubled.
  • In the tumor evolutionary tree, the two recurrences sat on the same branch, separate from the primary tumor.
  • The patient's CA-125 tumor marker stayed within the normal range, peaking at 12.2 U/mL.
• The authors' conclusion: The authors concluded that the ATM A1159T mutation found in the patient's recurrent tumors may be related to the tumor's recurrence.
• Limitations the authors state:
  • The authors said the link between ATM A1159T and recurrence is speculative.
  • The authors said further research is needed on whether the CARD11 mutation is related to the disease.

Topics

Medical terms in this study, explained in our Lexicon: Peritoneal Mesothelioma, Ascites, Biopsy, Immunohistochemistry, Calretinin, Wilms Tumor 1 (WT-1), Podoplanin (D2-40), BAP1.

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