Comprehensive genomic profiling of pediatric peritoneal mesothelioma: case report with a literature review
| Author | Redzepagic, Jasmina |
| Author | Zvizdic, Zlatan |
| Author | Bilalovic, Nurija |
| Author | Milisic, Emir |
| Author | Bukvic, Melika |
| Author | Vranic, Semir |
| Available date | 2024-09-23T06:45:23Z |
| Publication Date | 2024 |
| Publication Name | Journal of Surgical Case Reports |
| Resource | Scopus |
| ISSN | 20428812 |
| 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 x 19 x 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. |
| Sponsor | We acknowledge Professor Richard L Attanoos, Cardiff and Vale University Health Board; University Hospital of Wales, Health Park, Cardiff, United Kingdom and Univ.-Prof. Dr. Felix Offner from the Institute of Pathology, University Teaching Hospital Feld-kirch, Feldkirch, Austria, for their expert opinions in confirming the histopathologic diagnosis for this challenging case. We also appreciate the support from PD Dr. med. Obinna Chijioke and Dr. phill. Ilaria Alborelli (University Hospital Basel, Switzerland) for performing and interpreting NGS results for the case. Qatar National Library (QNL) funded open access of this article. |
| Language | en |
| Publisher | Oxford University Press |
| Subject | children genomic alterations outcome peritoneal mesothelioma prognosis |
| Type | Article |
| Issue Number | 5 |
| Volume Number | 2024 |
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