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

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submitted on 2024-06-05, 06:05 and posted on 2024-06-05, 06:05 authored by Jasmina Redzepagic, Zlatan Zvizdic, Nurija Bilalovic, Emir Milisic, Melika Bukvic, Semir Vranic

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.

Other Information

Published in: Journal of Surgical Case Reports
License: https://creativecommons.org/licenses/by/4.0/
See article on publisher's website: https://dx.doi.org/10.1093/jscr/rjae324

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

Oxford University Press

Publication Year

  • 2024

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Qatar University
  • Qatar University Health - QU
  • College of Medicine - QU HEALTH

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