Comprehensive genomic profiling of pediatric peritoneal mesothelioma: case report with a literature review

Our plain-English summary of Comprehensive genomic profiling of pediatric peritoneal mesothelioma: case report with a literature review, by J. Redzepagic, Z. Zvizdic, N. Bilalovic, et al (Journal of Surgical Case Reports, 2024).

The study

• Authors: J. Redzepagic, Z. Zvizdic, N. Bilalovic, E. Milisic, M. Bukvic, S. Vranic
• Journal: Journal of Surgical Case Reports
• Published: 2024;2024(5):rjae324
• Type of article: Case report
• Cited by: 3 articles, as counted by NIH iCite
• Read it: PubMed · Publisher · Free full text

Abstract

Malignant peritoneal mesothelioma is an extremely rare and poorly recognized neoplasm in children. A 5-year-old boy presented with a 1-year history of progressive painless abdominal distension. A CT revealed a 19 × 19 × 11 cm3 cystic mass in the right hemiabdomen, without infiltrating the surrounding structures. The tumor was completely removed by surgery. The microscopic and immunohistochemical analyses confirmed peritoneal mesothelioma. Comprehensive genomic profiling revealed no major driving mutations including BAP1, no fusions, but with amplifications of AURKA, AURKC, HLA-1B, ZNF-217, OR5F1 and MEN1 genes. Imaging follow-up 3 months after surgery revealed metastatic disease. The patient died of pneumonia at another hospital shortly after the last follow-up examination at our institution. Pediatric peritoneal mesothelioma is an extremely rare malignancy with limited targeted options and a poor prognosis. Some of the identified molecular genomic biomarkers require further exploration and validation in this cancer.

Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2024.

In plain English

This article was a case report of one child, with a literature review. A 5-year-old boy had a 1-year history of abdominal discomfort and distension. A CT scan showed a large multilocular cystic abdominal mass, which was removed completely by surgery. Laboratory tissue tests were consistent with peritoneal mesothelioma, and the tumor cells retained BAP1 protein. Four months later, scans showed active deposits in lymph nodes in the abdomen, chest and neck. Genomic profiling found no major driving or targetable mutations, including in BAP1, no gene fusions, a low mutational burden (1.9 mutations/Mb), and amplifications of six genes, including AURKA and ZNF-217. Chemotherapy was planned, but the patient developed pneumonia and died at another hospital. The authors' review of a few earlier pediatric cases found ALK alterations most consistently; none were found here. The article did not describe any asbestos exposure history for this child. The authors concluded that genomic profiling may reveal new treatment targets and should be done in such cancers.

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 of a single patient, with a literature review of published molecular profiling of pediatric peritoneal mesothelioma
• Who was studied: One 5-year-old boy treated at University Clinical Center Sarajevo, Bosnia and Herzegovina, with a 1-year history of abdominal discomfort and distension
• Exposure: Not reported. The article does not describe an asbestos or other exposure history for this child. The study examined the tumor's genetic alterations, using the Oncomine Comprehensive Assay Plus (DNA, 498 genes) and the Archer Fusion Plex Pan Solid Tumor v2 Panel (RNA, 137 genes).
• Main results:
  • The tumor was completely removed by surgery. Tissue findings in this patient were consistent with peritoneal mesothelioma.
  • The tumor cells in this patient retained BAP1 protein expression.
  • At follow-up four months after surgery, PET/CT showed metabolically active deposits in the patient's lymph nodes.
  • Genomic profiling of this patient's tumor found no somatic mutations, including in the BAP1 gene, but found amplifications of six genes.
  • The genes amplified in this tumor were AURKA, AURKC, HLA-1B, ZNF-217, OR5F1 and MEN1.
  • This patient's tumor had a low tumor mutational burden of 1.9 mutations per megabase.
  • The patient developed pneumonia and died at another hospital before planned adjuvant chemotherapy. No post-mortem examination was done.
  • In the authors' literature review of earlier pediatric cases, ALK gene alterations were the most consistent finding. None of the previously reported alterations were found in this case.
• The authors' conclusion: The authors concluded that pediatric peritoneal mesothelioma is extremely rare and remains fatal and aggressive, and that comprehensive genomic profiling may reveal novel therapeutic targets and should be done in such cancers.

Topics

Medical terms in this study, explained in our Lexicon: Peritoneal Mesothelioma, Neoplasm, BAP1, Prognosis, Biomarker.

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