Case Report and Review of Literature: Familial Malignant Pleural Mesothelioma in a 39 Years Old Patient With an Inconclusive 18F-FDG PET/CT Result

Our plain-English summary of Case Report and Review of Literature: Familial Malignant Pleural Mesothelioma in a 39 Years Old Patient With an Inconclusive 18F-FDG PET/CT Result, by M. Idkedek, K.S. Tahayneh, F. Abu-Akar, et al (Frontiers in Surgery, 2022).

The study

• Authors: M. Idkedek, K.S. Tahayneh, F. Abu-Akar, I.A. Bakri
• Journal: Frontiers in Surgery
• Published: 2022;9:819596
• Type of article: Case report
• Cited by: 1 article, as counted by NIH iCite
• Read it: PubMed · Publisher · Free full text

Abstract

Malignant pleural mesothelioma (MPM) is a rare yet aggressive neoplasm that was linked only to asbestos exposure for decades, although familial clusters were diagnosed with MPM without a known history of asbestos exposure most likely due to genetic susceptibility. Here, we describe a case of familial malignant mesothelioma in a 39 years old patient with a confirmed BAP1 mutation in addition to a known family history with the same mutation. The patient presented with progressive shortness of breath and recurrent pleural effusions and diagnosis was made through biopsies taken during uniportal Video-Assisted Thoracoscopic Surgery. After the inconclusive result of 18F-FDG PET/CT scan, subxiphoid uniportal Video-Assisted Thoracoscopic Surgery left pleural and laparoscopic peritoneal biopsies were obtained for staging and evaluating contralateral lung and peritoneal cavity. Finally, two important educational values should be acquired from this case: genetic predisposition and BAP1 tumor suppressor gene mutation might affect the age of presentation and overall prognosis of the disease. Also, 18F-FDG PET/CT scan may not be the best modality for staging and confirming the diagnosis of malignant pleural mesothelioma.

Copyright © 2022 Idkedek, Tahayneh, Abu-Akar and Bakri.

In plain English

This was a case report, with a brief literature discussion, of a 39-year-old woman with familial malignant pleural mesothelioma. She had a confirmed BAP1 gene mutation. A paternal uncle with the same mutation died just after a mesothelioma diagnosis, and a maternal uncle with similar recurrent fluid build-up died before diagnosis. The authors stated her disease was not related to asbestos exposure. She had five years of shortness of breath and recurrent right-sided pleural effusion. Biopsies taken by video-assisted thoracoscopic surgery (VATS) then showed epithelioid mesothelioma with low-grade features. A PET/CT scan was inconclusive. Further VATS biopsies of the left chest and a laparoscopy found scattered lesions on the left pleura, diaphragm, liver and peritoneum, and the authors classed her as stage IV. After six cycles of chemotherapy (Alimta plus cisplatin), a follow-up PET/CT showed minimal right-sided effusion without significant metabolic activity. The authors concluded that BAP1 mutation might affect age of presentation and prognosis, and that PET/CT may not be the best method for staging this disease.

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 short discussion of published literature
• Who was studied: One 39-year-old female patient with a family history of mutated BAP1 gene and a confirmed BAP1 mutation, treated in 2020 to 2021 (the authors' hospital is Al-Makassed Charitable Society Hospital, Jerusalem). Her paternal uncle died just after diagnosis with mesothelioma and was confirmed to have the BAP1 mutation. Her maternal uncle, who had recurrent pleural effusions and ascites, died before diagnosis.
• Exposure: No asbestos exposure is described. The authors attributed the disease to a heterozygous germline BAP1 mutation, not to asbestos exposure.
• Main results:
  • Right-sided biopsies taken by uniportal VATS pointed to malignant pleural mesothelioma, epithelioid subtype, with low-grade features and no infiltration into the lung or chest wall.
  • The whole-body 18F-FDG PET/CT scan done for staging on November 4, 2020 was inconclusive. It showed no hypermetabolic pulmonary or pleural nodules.
  • Subxiphoid uniportal VATS found multiple scattered lesions on the left parietal and visceral pleura.
  • Laparoscopy found lesions over the diaphragm, liver and peritoneum, and a small amount of ascites not seen before on ultrasound or CT.
  • Pathology of the pleural and peritoneal biopsies was consistent with the earlier diagnosis of epithelioid mesothelioma with low-grade features.
  • The authors classed the patient as stage IV, with involvement of both pleurae and the peritoneal surface but not of the underlying lung or chest wall.
  • She received six cycles of chemotherapy (Alimta plus cisplatin). The last cycle was in July 2021.
  • A follow-up PET/CT in September 2021 showed minimal right-sided pleural effusion with no significant metabolic activity. The authors took this as confirming improvement after chemotherapy.
• The authors' conclusion: The authors concluded that genetic predisposition and BAP1 mutation might affect the age of presentation and overall prognosis. They also concluded that 18F-FDG PET/CT may not be the best method for staging and confirming malignant pleural mesothelioma.

Topics

Medical terms in this study, explained in our Lexicon: Pleural Mesothelioma, Neoplasm, Asbestos Exposure, Mesothelioma, BAP1, Pleural Effusion, Video-Assisted Thoracoscopic Surgery (VATS), CT Scan.

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