ArticleAbdominal radiology (New York)2026
Birt-Hogg-Dubé: CT characteristics of renal tumors in a rare syndrome.
Article in Abdominal radiology (New York), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeBirt-Hogg-Dubé (BHD) syndrome is a rare genetic condition characterized by pathogenic variation in the folliculin (FLCN) gene on chromosome 17p11.2. Individuals affected with BHD are at risk to develop renal cysts and masses (13-34% of cases); renal masses are mostly hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, or oncocytomas. This study aims to investigate the computed tomography (CT) manifestations of renal masses associated with BHD syndrome.
methodsMultiphase CT imaging of patients with BHD syndrome who underwent renal surgery between March 2000 and December 2020 was evaluated. Imaging characteristics of the masses, including laterality, diameter, margin, tumor configuration, homogeneity, longitudinal location, percentage of tumor deepening into the kidney, location relative to the rim, presence of central scar, fat, calcification, pre-contrast density, and enhancing pattern, were recorded.
resultsThis investigation included 169 renal masses from 30 adult patients with BHD syndrome (mean age 53 ± 12 years, 15 males). Surgical laterality was 36.7% left, 40.0% right, and 23.3% bilateral. The mean diameter of the examined masses was 2.71 ± 1.62 cm. Growth rate analysis of 132 masses showed a growth rate of 0.04 cm per year (95% CI: 0.01- 0.07). The majority of masses selected for analysis (94.1%) were hybrid tumors. In the hybrid masses, 98.8% were predominantly solid, 68.0% were homogeneous, and 73.4% had well-defined margins. Exophytic masses were predominant (79.9%), primarily located on the lateral rim (45.6%). Longitudinally, 32.6% were in the upper pole, 36.0% interpolar, and 30.5 in % lower pole. Central scar was present in 9.5%, calcification in 4.1%, and none contained fat. In the pre-contrast phase, the mean density of masses was 36.1 HU ± 8.9. Normalized enhancement based on the renal cortex was lower in the venous than the arterial phase (0.73 vs. 0.88).
conclusionsOur analysis confirmed that while BHD-associated renal masses demonstrate diversity in CT presentations, most are solid, homogeneous, exophytic, exhibit a pre-contrast density of 36.1 HU ± 8.9, and have well-defined margins in the lateral rim.
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