Bronchoalveolar Lavage as Potential Diagnostic Specimens to Genetic Testing in Advanced Nonsmall Cell Lung Cancer.

Background: There is limited knowledge on the yield of performing capture-based targeted ultradeep sequencing on bronchoalveolar lavage (BAL) specimens from advanced nonsmall cell lung cancer (NSCLC) patients. This study aimed to evaluate gene variations and performance characteristics in BAL and tissue specimens using targeted sequencing. Methods: This cohort study retrospectively enrolled 20 patients with advanced NSCLC. The variant detection percentage, correlation of tumor mutation burden (TMB), and allele frequency heterogeneity (AFH) were compared between paired BAL and tissue samples. A three-tiered system was also applied for the interpretation of gene variants according to the guidelines. Results: No statistical difference was observed in variant detection between BAL and tissue samples (P = .591 for variant tier and P = .409 for variant type). In general, BAL achieved higher detection rates in tier I variants (96.2% vs 84.6%) and gene fusions (75% vs 50%) compared with tissue samples; tissue samples had better variants detection rates for other variants, such as tier II (89.6% vs 76.0%), tier III (87.1% vs 72.6%), single nucleotide variant (SNV, 89.6% vs 76.5%), insertion/deletion/duplication (InDel, 74.6% vs 69.8%) and copy number variation (CNV, 93.8% vs 43.8%). Besides, there were significant correlations of TMB (R2 = 0.96, P < .001) and AFH (R2 = 0.87, P < .001) between BALs and paired tissues. Conclusions: The findings demonstrate that BAL may serve as a supplement in liquid biopsy for mutation detection and for routine utilization in clinical settings.

A case of persistent fever, cutaneous manifestations and pulmonary and splenic nodules: clinical experience and a literature review.

Pyoderma gangrenosum (PG) is a rare and recurrent ulcerating, non-infectious, inflammatory dermatosis, with occasional concomitant extracutaneous manifestations. The pathogenesis and aetiology of PG are unknown. Moreover, early diagnosis is challenging because there are several visceral manifestations that may occur prior to the skin findings, such that misdiagnosis of PG as an infection is common. Here, we present a case of PG in which pulmonary and spleen lesions preceded the cutaneous manifestations. The correct diagnosis was made 6 months after multiple nodules were detected in the lung and spleen, based on the development of skin wound ulcers. To the best of our knowledge, this is the first report of PG in which pulmonary and splenic involvement preceded the appearance of skin lesions, without systemic disease. The patient was followed up for 5 years, during which time complete clinical and radiographic resolution was confirmed. This case demonstrates the challenges in the diagnosis of PG and the importance of using multiple diagnostic methods to determine the cause of unexplained clinical manifestations.