唾液腺肿瘤和口腔病变与 Birt-Hogg-Dube 综合征可能存在关联:系统回顾

IF 3.2 Q2 PATHOLOGY
Alberto Peraza Labrador, Mikhail Umorin, Madhu Shrestha, Cesar Abad Villacrez, John Wright
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引用次数: 0

摘要

背景:比尔-霍格-杜比综合征(Birt-Hogg-Dube syndrome,BHDS)是一种常染色体显性遗传综合征,具有不同的皮肤、肺和肾脏表现。该病通常在患者出生后的第三个十年确诊,患者罹患气胸和肾癌的风险增加:方法:系统综述纳入了 1977 年至 2023 年 9 月在 PubMed 和 Medline 上发表的文章。纳入标准适用于病例报告、系列病例和一项回顾性队列研究,这些研究描述了伴有口腔和/或腮腺病变的 BHDS 患者的临床、组织病理学和遗传学发现:对16个BHDS家族/个人进行了分析。患者年龄从 20 岁到 74 岁不等,平均年龄为 49.4 岁。男性患者占 52.2%,女性患者占 39.1%。87%的病例报告了皮肤纤维瘤,47.8%的病例记录了口腔病变。43.5%的患者患有腮腺肿瘤,其中30.4%为肿瘤细胞瘤,4.3%为双侧肿瘤细胞瘤,4.3%为 "肿瘤细胞癌":结论:由于BHDS并不常见,其临床表现的范围可能未被充分认识,尤其是该病大多在晚期才被报道。部分 BHDS 患者可能患有肿瘤性腮腺肿瘤和口腔病变。因此,出现这些病变和其他 BHDS 指征的患者应考虑进行肾脏筛查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.

Background: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant syndrome with different skin, lung, and renal manifestations. It is diagnosed commonly in the third decade of life, and patients have an increased risk for pneumothorax and renal carcinomas.

Methods: Articles published in PubMed, and Medline from 1977 to September 2023, were included in the systematic review. Inclusion criteria were applied to case reports, case series, and a retrospective cohort study, describing clinical, histopathological, and genetic findings in patients with BHDS with oral and/or parotid lesions.

Results: Sixteen families/individuals with BHDS were identified for analysis. Patients ranged in age from 20 to 74 years, with an average of 49.4 years. Males were affected 52.2% of the time and females, 39.1%. Skin fibrofolliculomas were reported in 87% of cases, and oral lesions were documented in 47.8%. Parotid tumors were documented in 43.5% of patients, 30.4% of which were oncocytomas, 4.3% bilateral oncocytomas, and 4.3% "oncocytic carcinoma".

Conclusions: Because BHDS is uncommon, its spectrum of clinical manifestations may be underrecognized, especially as the disease is mostly reported at advanced stage. And some of the patients with BHDS may have oncocytic parotid tumors and oral lesions. In this regard, patients presenting these lesions and other indications of BHDS should be considered for renal screening.

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来源期刊
CiteScore
5.70
自引率
9.50%
发文量
99
期刊介绍: Head & Neck Pathology presents scholarly papers, reviews and symposia that cover the spectrum of human surgical pathology within the anatomic zones of the oral cavity, sinonasal tract, larynx, hypopharynx, salivary gland, ear and temporal bone, and neck. The journal publishes rapid developments in new diagnostic criteria, intraoperative consultation, immunohistochemical studies, molecular techniques, genetic analyses, diagnostic aids, experimental pathology, cytology, radiographic imaging, and application of uniform terminology to allow practitioners to continue to maintain and expand their knowledge in the subspecialty of head and neck pathology. Coverage of practical application to daily clinical practice is supported with proceedings and symposia from international societies and academies devoted to this field. Single-blind peer review The journal follows a single-blind review procedure, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous. Single-blind peer review is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.
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