Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.

IF 4.5 2区医学 Q1 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Insights into Imaging Pub Date : 2025-08-06 DOI:10.1186/s13244-025-02053-y

Amreen Shakur, Grant D Stewart, Timothy J Sadler, Judith L Babar, Anne Y Warren, Stephen Scullion, Abhishekh H Ashok, Sumit Karia, Igor Chipurovski, James Whitworth, Stefan J Marciniak, Eamonn R Maher, Maria Ta Wetscherek

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引用次数: 0

Abstract

Objectives: To assess the presence and CT features of pulmonary cysts (PCs) in patients with renal neoplasms (RN) as a hallmark of Birt-Hogg-Dubé syndrome (BHDS).

Materials and methods: Single institution retrospective study of all patients with histological RN between May 2014 and May 2020. Individuals with non-renal neoplasm, nephroblastoma, benign cysts, < 18 years old, or without thoracic CT were excluded. Demographics, history of smoking, pneumothorax and cutaneous fibrofolliculomas/trichodischomas, family history of pneumothorax or RN, and genetic testing were recorded. Number, location, distribution and morphology of PCs were assessed on thoracic CT. Differences between patients with positive (BHD+) and negative (BHD-) genetics were analysed. An independent cohort of 10 BHDS patients was added to calculate the diagnostic accuracy of cyst features.

Results: Of 1475 patients with RN, 127 (8.6%) had PCs; 40 underwent genetic testing (median age 56 [49-68], 28 men), and 6/127 (4.7%) individuals tested positive for BHDS. BHD+ had significantly more and larger cysts, affecting more lobes (p < 0.01). Higher prevalence of PCs with a perivascular (100% vs. 37%; p = 0.01) and interlobular septal location (100% vs. 16%; p < 0.001), and perilymphatic distribution (100% vs. 5%; p < 0.001) was found in BHD+. All BHD+ had elliptical, irregular, and variable shape PCs, compared to a lower prevalence of these in BHD- (p < 0.01). Traversing vein sign was more common in BHD+ (83% vs. 24%; p = 0.01). The highest accuracy was achieved for perilymphatic distribution (97%), followed by irregular shape (94%) and interlobular septal location (91%).

Conclusion: Specific CT features of PC in patients with RN can be highly indicative of BHDS.

Critical relevance statement: Radiologists can play a crucial role in the diagnosis of Birt-Hogg-Dubé syndrome (BHDS) by recognising specific CT features of pulmonary cysts; a diagnosis of BHDS has implications for family testing and timely, life-long screening for renal neoplasm.

Key points: Birt-Hogg-Dubé syndrome (BHDS) should be considered in patients with renal neoplasms and multiple pulmonary cysts. A lower zone predominant, perilymphatic distribution of pulmonary cysts is a strong indicator of BHDS. Identifying specific CT features of pulmonary cysts can improve recognition of BHDS.

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肺囊肿作为肾肿瘤患者birt - hogg - dub综合征的诊断指标

目的：探讨作为birt - hogg - dub综合征（BHDS）标志的肾肿瘤（RN）患者肺囊肿（PCs）的存在及CT特征。材料和方法：对2014年5月至2020年5月期间所有组织学RN患者进行单机构回顾性研究。排除非肾肿瘤、肾母细胞瘤、良性囊肿、年龄< 18岁或没有胸部CT的患者。记录人口统计学、吸烟史、气胸和皮肤纤维毛囊瘤/毛癣、气胸或RN家族史以及基因检测。在胸部CT上评估肿瘤的数量、位置、分布及形态。分析遗传阳性（BHD+）和遗传阴性（BHD-）患者之间的差异。加入10例BHDS患者的独立队列，计算囊肿特征的诊断准确性。结果：1475例RN患者中，127例（8.6%）有PCs；40人接受了基因检测（中位年龄56岁[49-68]，男性28人），6/127（4.7%）人检测出BHDS阳性。BHD+患者的囊肿数量和面积均显著增加，且影响叶部较多(p)。结论：RN患者PC的特异性CT表现可高度指示BHDS的发生。关键相关性声明：通过识别肺囊肿的特定CT特征，放射科医生可以在诊断birt - hogg - dub综合征（BHDS）中发挥关键作用；BHDS的诊断对家庭检测和及时的终身肾肿瘤筛查具有重要意义。重点：肾肿瘤合并多发性肺囊肿患者应考虑birt - hogg - dub综合征（BHDS）。肺囊肿以下区为主，淋巴周围分布是BHDS的一个强有力的指标。明确肺囊肿的具体CT表现可以提高对BHDS的认识。

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

Insights into Imaging Medicine-Radiology, Nuclear Medicine and Imaging

CiteScore

7.30

自引率

4.30%

发文量

182

审稿时长

13 weeks

期刊介绍： Insights into Imaging (I³) is a peer-reviewed open access journal published under the brand SpringerOpen. All content published in the journal is freely available online to anyone, anywhere! I³ continuously updates scientific knowledge and progress in best-practice standards in radiology through the publication of original articles and state-of-the-art reviews and opinions, along with recommendations and statements from the leading radiological societies in Europe. Founded by the European Society of Radiology (ESR), I³ creates a platform for educational material, guidelines and recommendations, and a forum for topics of controversy. A balanced combination of review articles, original papers, short communications from European radiological congresses and information on society matters makes I³ an indispensable source for current information in this field. I³ is owned by the ESR, however authors retain copyright to their article according to the Creative Commons Attribution License (see Copyright and License Agreement). All articles can be read, redistributed and reused for free, as long as the author of the original work is cited properly. The open access fees (article-processing charges) for this journal are kindly sponsored by ESR for all Members. The journal went open access in 2012, which means that all articles published since then are freely available online.