Serendipitous Discovery of Peritoneal Mesothelioma

Jaster, Adam W.; Wachsmann, Jason

doi:10.1080/08998280.2016.11929410

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…Both patients presented with multiple hybrid oncocytic (renal) tumors (Figure, E and F). The first patient with a likely germline FLCN p.E335* alteration (identified on tumor-only sequencing, VAF: 50%) developed mesothelioma, which has been rarely reported in BHD patients . The second patient (with a germline FLCN p. H429fs* alteration) subsequently developed uveal melanoma and this case has been previously reported …”

Section: Resultsmentioning

confidence: 71%

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia

et al. 2021

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IMPORTANCEIn BAP1 tumor predisposition syndrome, clear cell renal cell carcinoma (RCC) is frequently associated with melanoma and/or mesothelioma, while germline MITF p.E318K alterations are being increasingly reported in melanoma/RCC. Limited data exist on the co-occurrence of melanoma and/or mesothelioma with renal neoplasia and the prevalence of associated germline alterations.OBJECTIVE To assess the frequency of melanoma and/or mesothelioma co-occurring with renal neoplasia using our institutional nephrectomy registry and to determine the prevalence of BAP1 and MITF alterations within this cohort. DESIGN, SETTING, AND PARTICIPANTSIn this genetic association study, medical records from 8295 patients from 1970 to 2018, renal neoplasia co-occurring with melanoma and/or mesothelioma within a single institutional nephrectomy registry was reevaluated based on contemporary histopathologic criteria and the medical records were reviewed. Data were analyzed from September 2019 to May 2021.

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Section: Resultsmentioning

confidence: 71%

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia

et al. 2021

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“…Interestingly, the rate of melanoma increased from 2.1% in the general population to 10% for patients with BHDS. Table II11, 12, 13 summarizes all reports of cutaneous melanoma in patients with BHDS to date. Further studies are warranted to determine the lifetime risk of melanoma in patients with BHDS and how environmental factors and skin type influence this risk.…”

Section: Discussionmentioning

confidence: 99%

Melanoma in a patient with previously unrecognized Birt-Hogg-Dubé syndrome

et al. 2019

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Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

et al. 2017

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Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms). The only malignancies associated with BHD are renal cancers; however, other tumors have been observed in individuals with BHD. In this article, the skin lesions associated with this condition are reviewed, lung and renal manifestations associated with this syndrome are presented, and malignancies occurring in these patients are summarized.

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Serendipitous Discovery of Peritoneal Mesothelioma

Cited by 4 publications

References 6 publications

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia

Melanoma in a patient with previously unrecognized Birt-Hogg-Dubé syndrome

Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms

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