Sarcoidosis is a multisystem disorder of unknown origin and poorly understood pathogenesis that predominantly affects lungs and intrathoracic lymph nodes and is characterized by the presence of noncaseating granulomatous inflammation in involved organs. The disease is highly heterogeneous and can mimic a plethora of other disorders, making diagnosis a challenge even for experienced physicians. The evolution and severity of sarcoidosis are highly variable: many patients are asymptomatic and their disease course is generally benign with spontaneous resolution. However, up to one-third of patients develop chronic or progressive disease mainly due to pulmonary or cardiovascular complications that require long-term therapy. The diagnosis of sarcoidosis requires histopathological evidence of noncaseating granulomatous inflammation in one or more organs coupled with compatible clinical and radiological features and the exclusion of other causes of granulomatous inflammation; however, in the presence of typical disease manifestations such as Löfgren’s syndrome, Heerfordt’s syndrome, lupus pernio and asymptomatic bilateral and symmetrical hilar lymphadenopathy, the diagnosis can be established with high level of certainty on clinical grounds alone. This review critically examines the diagnostic approach to sarcoidosis and emphasizes the importance of a careful exclusion of alternative diagnoses.

Transbronchial lung cryobiopsy (TBLC) is a relatively new technique for obtaining lung biopsies, known for being the least invasive method while offering a high diagnostic yield, a favourable safety profile, and a significant reduction in morbidity, mortality, and hospital stay length compared to surgical lung biopsy. Radial‐EBUS (r‐EBUS) represent a cornerstone modality for accessing ‘invisible’ peripheral pulmonary lesions. However, a major drawback of these techniques is the lack of ‘real‐time’ visualization of the biopsy being obtained. In this case report, we present a young woman who was referred to us with a cough, haemoptysis, and a non‐resolving lung consolidation. She underwent TBLC under real‐time rEBUS guidance. This clinical case demonstrates that, in specific clinical scenarios, TBLC with real‐time rEBUS is an excellent diagnostic tool.

Background Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare inflammatory myeloid neoplasms (IMNs) that may primarily affect the lungs. A definitive diagnosis of IMNs is mostly obtained through surgical lung biopsy (SLB). However, transbronchial lung cryobiopsy (TBLC) in diffuse parenchymal lung diseases offers important diagnostic information with no need for hospital stay and fewer major adverse events compared to SLB. Aim to evaluate the diagnostic role, feasibility and safety TBLC in IMNs. Methods between 2014 and 2023, 16 cases of IMNs were histologically confirmed using TBLC in our department. We retrospectively collected clinical, functional and histological data. Results samples obtained by TBLC were all considered adequate, and histological features characteristic of IMNs were found in all 16 patients, comprising 14 cases of LCH and 2 of ECD. 11 (68%) patients were female and 5 (32%) were male, with a median age of 43 (21-78). All patients had a history of active or former smoking. At diagnosis, the forced vital capacity (FVC) was 95% (70-125), and the diffusion capacity of the lungs for carbon monoxide (DLCO) was 67% (48-83). All LCH histological samples showed immunohistochemistry positivity for CD1a, S-100 and 4 patients had BRAF mutation; all the 2 ECD cases showed CD68+ and BRAF mutation. Pneumothorax occurred in 3(18%) patients, all of whom were managed with drainage tube placement. Minor bleeding was reported in 1(6%) patient during the procedure. Conclusion TBLC is a safe and minimally invasive approach for characterizing IMNs, providing high diagnostic confidence and a low rate of complications.