Evidence map›Paper›PMID 40770455›Full record

ArticleInsights into imaging2025

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

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 and 3 more

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Article in Insights into imaging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Amreen ShakurDepartment of Radiology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Grant D StewartDepartment of Surgery, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Timothy J SadlerDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Judith L BabarDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Anne Y WarrenDepartment of Pathology, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Stephen ScullionDepartment of Radiology, West Suffolk Hospital NHS Foundation Trust, Bury St Edmunds, UK.
Abhishekh H AshokDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Sumit KariaDepartment of Radiology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Igor ChipurovskiDepartment of Urology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
James WhitworthDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
Stefan J MarciniakRespiratory Medicine, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
Maria Ta WetscherekDepartment of Radiology, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. teo.wetscherek@nhs.net.ORCID http://orcid.org/0000-0003-2924-7587

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo 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

methodsSingle 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.

resultsOf 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%).

conclusionSpecific 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.

Indexed as

Birt-Hogg-Dubé syndromeComputed tomographyCystic lung diseaseRenal cancer

Identifiers

PMID40770455
PMCPMC12328879

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.