Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dube 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. 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

SUBMITTER: Shakur A 

PROVIDER: S-EPMC12328879 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature