Choroidal Melanoma, Sector Melanocytosis, and Retinal Pigment Epithelial Microdetachments in Birt–hogg–dubé Syndrome

Marous, Charlotte L.; Marous, Molly R.; Welch, R Joel; Shields, Jerry A.; Shields, Carol L.

doi:10.1097/icb.0000000000000595

Cited by 7 publications

(3 citation statements)

References 20 publications

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“…Some data suggest that BHD patients might have an increased risk of melanoma, but this remains controversial. There are case reports of both malignant skin [99][100][101][102] and choroidal melanoma [103,104], which may be familial [102,105] and/or multiple [102,105], and even more debated reports of multiple atypical nevi [102]. One small study found a risk of melanoma in confirmed BHD as high as 10%, which is much higher than the 1.8-2.4% risk in the general population [105].…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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Section: Cutaneous Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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“…Although BHDS has a well-known link with malignancy, especially renal cancer, it is infrequently considered in dermatology patients with atypical nevi and melanoma 2 . However, increased melanoma risk, including choroidal melanoma, is associated with BHDS 3, 4, 5, 6, 7, 8, 9. Here, we report a patient with multiple primary cutaneous melanomas and atypical nevi that triggered evaluation for an underlying genetic cause.…”

Section: Introductionmentioning

confidence: 92%

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

et al. 2019

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“…Pathogenic germline variants in other genes, such as MBD4 , have been reported in UM patients in relation to the predisposition to develop such tumors [ 16 , 17 , 18 ]. Additionally, certain case reports have linked UM development to germline mutations in genes like CDKN2A , BRCA1/BRCA2 , MLH1 , MSH6 , FLCN , and POT1 [ 19 , 20 , 21 , 22 , 23 , 24 ]. Recent findings suggest moderate evidence of hereditary predisposition to UM through germline mutations in MLH1 or PALB2 , indicating locus heterogeneity for UM predisposition [ 25 ].…”

Section: Introductionmentioning

confidence: 99%

Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

Silva-Rodríguez,

Bande,

Pardo

et al. 2024

JCM

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Background: Primary bilateral uveal melanoma (BUM) is an exceptionally rare form of uveal melanoma (UM). This study aimed to explore the potential existence of a genetic predisposition towards the development of BUM. Methods: We employed an exome sequencing approach on germline DNA from four unrelated patients diagnosed with BUM, seeking pathogenic or likely pathogenic variants indicative of a genetic predisposition to UM. Results: None of the patients exhibited pathogenic variants in the BAP1 gene. However, loss-of-function (LoF) variants in the TERF2IP and BAX genes were identified in two of the BUM patients. For patients BUM1 and BUM2, no pathogenic/likely pathogenic variants of significant clinical relevance to BUM were found to warrant inclusion in this report. Conclusions: Our findings suggest the presence of yet-to-be-discovered genes that may contribute to UM predisposition, as evidenced by the absence of pathogenic variants in known UM predisposition genes among the four BUM patients studied. The TERF2IP and BAX genes emerge as noteworthy candidates for further investigation regarding their role in genetic predisposition to UM. Specifically, the potential role of UM as a candidate cancer within the spectrum of cancers linked to pathogenic variants in the TERF2IP gene and other genes associated with the shelterin complex warrants further examination. Additional functional studies are necessary to support or challenge this hypothesis.

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Choroidal Melanoma, Sector Melanocytosis, and Retinal Pigment Epithelial Microdetachments in Birt–hogg–dubé Syndrome

Abstract: The BHDS can be associated with tumors of the skin and kidney. In this case, we noted ocular melanocytosis, malignant choroidal melanoma, and bilateral pinpoint retinal pigment epithelial detachments.

Cited by 7 publications

References 20 publications

Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé syndrome

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

Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

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