Evidence map›Paper›PMID 38822938›Full record

ArticleFamilial cancer2024

A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.

Christina Shabet, Meera Kattapuram, Anna Burton, Renata Thoeny, Hailey Nielsen, Marie Louise Accardo, Emily H Smith, Erika Koeppe, Tobias Else, Kelly B Cha

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Article in Familial cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Christina ShabetUniversity of Michigan Medical School, Ann Arbor, MI, USA.
Meera KattapuramUniversity of Michigan Medical School, Ann Arbor, MI, USA.
Anna BurtonMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Renata ThoenyMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Hailey NielsenMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Marie Louise AccardoMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Emily H SmithMichigan Medicine Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.
Erika KoeppeMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Tobias ElseMichigan Medicine Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. telse@med.umich.edu.
Kelly B ChaMichigan Medicine Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBirt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms.

objectiveTo characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral.

methodsRetrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results.

results64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN.

conclusionProviders should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.

Indexed as

Birt-Hogg-Dube SyndromeGenetic TestingReferral and ConsultationSkin NeoplasmsTumor Suppressor ProteinsAdultAgedFemaleHumansMaleMiddle AgedProto-Oncogene ProteinsRetrospective StudiesYoung AdultFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor ProteinsBHDBirt-Hogg-Dubé syndromeFibrofolliculomaFLCNGenetic testingTrichodiscoma

Identifiers

PMID38822938

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