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

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-06-01 DOI:10.1007/s10689-024-00402-2

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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Abstract

Background: Birt-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.

Objective: To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral.

Methods: Retrospective 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.

Results: 64 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.

Conclusion: Providers 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.

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关于毛发粘液瘤和纤维组织瘤患者 Birt-Hogg-Dubé 综合征基因转诊和诊断的回顾性队列研究。

背景：伯特-霍格-杜贝（Birt-Hogg-Dubé，BHD）综合征是由 FLCN 基因的致病变异引起的一种遗传病，可导致良性皮肤病变、自发性气胸和多种肾脏肿瘤风险的增加。BHD 的皮肤表现包括毛发粘膜瘤（TD）和纤维软骨瘤（FF），它们可能代表同一病理实体。这些病变可鉴别出 BHD 患者，基因检测呈阳性的患者可考虑终生接受肾肿瘤监测：目的：描述确诊为 TD 和 FF 患者的特征，包括遗传学转诊率和转诊结果：方法：对密歇根大学 2002 年 9 月至 2020 年 10 月期间确诊或可能确诊为 TD 或 FF 的患者进行回顾性病历审查，以评估病理结果、BHD 表现的个人和家族病史、遗传学评估转诊情况以及遗传学检测结果：64名患者被病理诊断为TD或FF，其中16人（25%）被转诊至癌症遗传学。14名患者完成了基因评估，其中9人被诊断为BHD（64%），FLCN中有6种独特的致病变异：医疗服务提供者应考虑将活检证实为TD或FF的患者转诊至遗传学评估机构，因为BHD的早期诊断为其他BHD相关疾病的早期发现和治疗提供了机会。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.