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Objectives <p>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).</p> Materials and methods <p>Single institution retrospective study of all patients with histological RN between May 2014 and May 2020. Individuals with non-renal neoplasm, nephroblastoma, benign cysts, &lt; 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.</p> Results <p>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 (<i>p</i> &lt; 0.01). Higher prevalence of PCs with a perivascular (100% vs. 37%; <i>p</i> = 0.01) and interlobular septal location (100% vs. 16%; <i>p</i> &lt; 0.001), and perilymphatic distribution (100% vs. 5%; <i>p</i> &lt; 0.001) was found in BHD+. All BHD+ had elliptical, irregular, and variable shape PCs, compared to a lower prevalence of these in BHD− (<i>p</i> &lt; 0.01). Traversing vein sign was more common in BHD+ (83% vs. 24%; <i>p</i> = 0.01). The highest accuracy was achieved for perilymphatic distribution (97%), followed by irregular shape (94%) and interlobular septal location (91%).</p> Conclusion <p>Specific CT features of PC in patients with RN can be highly indicative of BHDS.</p> Critical relevance statement <p>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.</p> Key Points <p><UnorderedList Mark="Bullet"> <ItemContent> <p>Birt-Hogg-Dubé syndrome (BHDS) should be considered in patients with renal neoplasms and multiple pulmonary cysts.</p> </ItemContent> <ItemContent> <p>A lower zone predominant, perilymphatic distribution of pulmonary cysts is a strong indicator of BHDS.</p> </ItemContent> <ItemContent> <p>Identifying specific CT features of pulmonary cysts can improve recognition of BHDS.</p> </ItemContent> </UnorderedList></p> Graphical Abstract <p></p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月6日

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  • 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

摘要

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.

Graphical Abstract