Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm
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....
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SpringerOpen
2025-08-01
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| Series: | Insights into Imaging |
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| Online Access: | https://doi.org/10.1186/s13244-025-02053-y |
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| author | 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 |
| author_facet | 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 |
| author_sort | Amreen Shakur |
| collection | DOAJ |
| description | 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. Graphical Abstract |
| format | Article |
| id | doaj-art-d8e592d3cf074416bb6b6c87efdd2674 |
| institution | Kabale University |
| issn | 1869-4101 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | SpringerOpen |
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| series | Insights into Imaging |
| spelling | doaj-art-d8e592d3cf074416bb6b6c87efdd26742025-08-20T03:46:03ZengSpringerOpenInsights into Imaging1869-41012025-08-0116111110.1186/s13244-025-02053-yPulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasmAmreen Shakur0Grant D. Stewart1Timothy J. Sadler2Judith L. Babar3Anne Y. Warren4Stephen Scullion5Abhishekh H. Ashok6Sumit Karia7Igor Chipurovski8James Whitworth9Stefan J. Marciniak10Eamonn R. Maher11Maria TA Wetscherek12Department of Radiology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustDepartment of Surgery, University of Cambridge, Cambridge Biomedical CampusDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation TrustDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation TrustDepartment of Pathology, University of Cambridge and Cambridge University Hospitals NHS Foundation TrustDepartment of Radiology, West Suffolk Hospital NHS Foundation TrustDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation TrustDepartment of Radiology, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustDepartment of Urology, University of Cambridge, Cambridge Biomedical CampusDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research CentreRespiratory Medicine, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation TrustDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research CentreDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation TrustAbstract 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 Abstracthttps://doi.org/10.1186/s13244-025-02053-yBirt-Hogg-Dubé syndromeComputed tomographyRenal cancerCystic lung disease |
| spellingShingle | 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 Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm Insights into Imaging Birt-Hogg-Dubé syndrome Computed tomography Renal cancer Cystic lung disease |
| title | Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm |
| title_full | Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm |
| title_fullStr | Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm |
| title_full_unstemmed | Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm |
| title_short | Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm |
| title_sort | pulmonary cysts as a diagnostic indicator of birt hogg dube syndrome in patients with renal neoplasm |
| topic | Birt-Hogg-Dubé syndrome Computed tomography Renal cancer Cystic lung disease |
| url | https://doi.org/10.1186/s13244-025-02053-y |
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