The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies. OBJECTIVES: We aimed to investigate the real prevalence of BHDS and its prevalence among patients with a familial history of pneumothorax. METHODS: From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation. RESULTS: Among 114 patients admitted with spontaneous pneumothorax, 7 patients had a family history of pneumothorax, and 6/7 (85.7%) patients had positive genetic test for FLCN as well as 7/13 family members. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Most patients (10/13, 76.9%) had tiny pulmonary cysts less than 1 cm in diameter. The vast majority of cysts were intraparenchymal (12/13, 92.3%) and located in lower lobes. Dermatological lesions were found in 7/13 (54%) patients, renal cysts in 4/13 (31%) patients, and renal cancer in 1 (1/13, 7.7%) patient. CONCLUSIONS: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.

Successful multidisciplinary urgent management of life-threatening intraprocedural bleeding after EUS-guided fine-needle biopsy of a pulmonary mass.

Video 1Multidisciplinary management of an intraprocedural endobronchial bleeding after EUS-guided transesophageal FNB of a pulmonary mass.

Uniportal thoracoscopic decortication for pleural empyema and the role of ultrasonographic preoperative staging.

Objectives: The surgical approach to chronic pleural empyema is still controversial. Video-assisted thoracic surgery (VATS) debridement and decortication has shown favourable outcomes, while the uniportal VATS (U-VATS) approach is still anecdotal. We report our experience with ultrasonographic (US) preoperative staging followed by U-VATS decortication for pleural empyema. Methods: We performed a retrospective analysis of patients who underwent surgical treatment of stage II and stage III pleural empyema from 2012 to 2015. Pre-, intra- and postoperative data were investigated to evaluate outcomes including postoperative complications and disease recurrence. Results were analysed according to preoperative US appearance of pleural space (stages A-E) and surgical approach (thoracotomy vs U-VATS). Results: We performed 30 (47%) uniportal thoracoscopic pleural decortication and 34 (53%) open decortication for empyema in stage II (40%) or III (60%) obtaining a complete debridement and decortication in all patients. In-hospital mortality was zero and overall morbidity was 29%. U-VATS was associated with lower blood loss (118 ± 80 ml vs 247 ± 140 ml P < 0.001), lower chest tubes duration (5.6 ± 1.4 vs 10.6 ± 4.4 days P < 0.001), shorter hospital stay (6.7 ± 1.9 vs 12.2 ± 4.7 days, P < 0.001) and lower complications (10% vs 16%, P < 0.001). Elevated US patterns (D-E) are associated with thoracotomy, higher blood loss, operative time and a significant incidence of complications. Conclusions: Uniportal thoracoscopic decortication for pleural empyema is a safe and effective approach for selected patients based on a combination of clinical and imaging staging. US patterns well corresponded with intraoperative pleural findings and showed a prognostic value.

Short and long-term results of sternectomy for sternal tumours.

BACKGROUND: We analyzed our experience in sternal resections (SRs) for primary or secondary neoplasm focusing on technical aspects of reconstruction, post-operative outcomes and long term survival. METHODS: From January 2005 to December 2015, 36 patients (24 males, 67%) underwent surgical excision of primary (chondrosarcoma n=18 patients, 50%; osteosarcoma n=2, 6%; Ewing sarcoma n=1, 3%; other n=2, 6%) or secondary (breast cancer n=7, 19%; kidney carcinoma n=2, 6%) sternal tumour. We performed n=30 partial sternectomy and n=6 total sternectomy with en-bloc resection of the sternocostal cartilages in all patient and extended resection in 7 patients. Stability was obtained with prosthetic material, rigid and non-rigid and a muscular flap: rigid material [Strasbourg Thoracic Osteosynthesis System (STRATOS), MedXpert GmbH] and muscle flap n=11 (30.6%); polytetrafluoroethylene patch and muscle flap n=6 (16.7%); muscle flap alone n=19 (52.8%). RESULTS: The 30-day mortality rate was 0, overall complication rate was 19%. The median ICU stay was 1.5 days and mean hospital stay was 10.6±5.9 days. We obtained a complete (R0) resection in all patients. Overall survival (OS) at 5 and 10 years were 59% and 40%; in the group of primary neoplasm OS rate at 5 and 10 years was 79% and 54%. Disease free survival (DFS) rate at 5 years was 61%. Higher grading was identified as negative prognostic factor. CONCLUSIONS: Wide radical resections of anterior chest wall are basilar in a multimodality treatment for primary or metastatic neoplasm of the sternum. Stabilization with titanium bars and clips provides rigidity of chest wall with good functional results.

Does videomediastinoscopy with frozen sections improve mediastinal staging during video-assisted thoracic surgery pulmonary resections?

BACKGROUND: To assess if video-mediastinoscopy (VM) with frozen sections (FS) combined with a video-assisted thoracic surgery major pulmonary resection (VMPRS) is able to improve VATS mediastinal intraoperative staging. METHODS: From June 2012 to March 2015 a total of 146 patients underwent VMPRS lymphadenectomy. NCCN guidelines were followed for pre-operative staging, including VM with FS in 27 patients (19%). Procedural time, dissected nodal stations, complications related to VM and VATS lymphadenectomy and definitive histology, were evaluated. RESULTS: Operative time for VATS resection with VM (group 1) and VATS pulmonary resection alone (group 2) was 198±64 vs. 167±43 min (P=0.003). Mean/median numbers of dissected nodal stations were 4.93±1.1/5 (range, 4-8) in group 1 and 3.25±0.5/5 (range, 3-8) in group 2 (P<0.001). Group 1 vs. group 2 right-sided lymphadenectomy (n=86) was performed at station 2R/4R in 18 (90%) and 46 (69.7%); at station 3a/3p in 14 (51.8%) and 22 (31%); at station 7 in 18 (90%) and 44 (66.7%); at station 8/9 in 11 (55%) and 24 (36.4%) respectively. On the left side (n=60) group 1 vs. group 2 lymphadenectomy resulted at station 4 in 6 (85.7%) and 38 (71.7%); at station 5/6 in 6 (85.7%) and 26 (49%); at station 7 in 6 (85.7%) and 33 (62.3%), and at station 8/9 in 1 (14.3%) and 18 (34%). There were no early deaths and recurrent laryngeal nerve palsy occurred in 1 (0.8%) in group 2. Pathological upstaging (pN1; pN2) was found in 5 patients (17%) in group 1, and 13 (11%) in group 2 (P=0.23). About FS (n=29), formal paraffin histology resulted in 0% of both, false negative and false positive results. CONCLUSIONS: Based on our experience, the combination "VM with FS followed by VMPRS in sequence", seems to be effective and offers an alternative approach to improve intraoperative mediastinal staging.

Development of a video-assisted thoracoscopic lobectomy program in a single institution: results before and after completion of the learning curve.

BACKGROUND: The development of a video assisted thoracic surgery lobectomy (VATS-L) program provides a dedicated surgical team with a recognized learning curve (LC) of 50 procedures. We analyse the results of our program, comparing the LC with subsequent cases. METHODS: From June 2012 to March 2015, we performed n = 146 VATS major pulmonary resections: n = 50 (Group A: LC); n = 96 (Group B). Pre-operative mediastinal staging followed the National Comprehensive Cancer Network guidelines. All procedures were performed using a standard anterior approach to the hilum; lymphadenectomy followed the NCCN recommendations. During the LC, VATS-L indication was reserved to clinical stages I, therefore evaluated case by case. RESULTS: Mean operative time was 191 min (120-290) in Group A and 162 min (85-360) in Group B (p <0,01). Pathological T status was similar between two Groups. Lymphadenectomy included a mean of 5.8 stations in Group A and 6.6 in Group B resulting in: pN0 disease: Group A n = 44 (88 %), Group B n = 80 (83.4 %); pN1: Group A n = 3 (6 %), Group B n = 8 (8.3 %); pN2: Group A n = 3 (6 %), Group B n = 8 (8.3 %). Conversion rate was: 8 % in group A (n = 4 vascular injuries); 1.1 % in Group B (n = 1 hilar lymph node disease). We registered n = 6 (12 %) complications in Group A, n = 10 (10.6 %) in Group B. One case (1.1 %) of late post-operative mortality (90 days) was registered in Group B for liver failure. Mean hospital stay was 6.5 days in Group A and 5.9 days in Group B. CONCLUSIONS: We confirm the effectiveness of a VATS-L program with a learning curve of 50 cases performed by a dedicated surgical team. Besides the LC, conversion rate falls down, lymphadenectomy become more efficient, indications can be extended to upper stages.