Israel Medical Association Journal

Background: Lung cancer is a major cause of death worldwide. Accurate diagnosis and staging are essential for effective treatment. Mediastinal lymph node involvement determines the disease stage and influences treatment decisions, especially with new biological and immunotherapy options. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is the main minimally invasive procedure for evaluating mediastinal and hilar adenopathy. It offers high sensitivity, specificity, and fewer complications than mediastinoscopy or video-assisted thoracic surgery. It also retrieves crucial molecular markers for guiding therapeutic decisions in non-small cell lung cancer.

Objectives: To evaluate the diagnostic yield of EBUS-TBNA in patients with mediastinal lymphadenopathy.

Methods: This retrospective study included patients who underwent bronchoscopy with EBUS and had lymph node malignancy between 2018 and 2023. Crossmatching was conducted by pathology and genomic study results. No informed consent was required as the study was based on the hospital database.

Results Next generation sequencing was performed on 57 specimens (83%) collected via EBUS from patients with primary non-small cell lung cancer. However, 12 of the specimens (17%) were insufficient for pathological analysis. Among these, 7 (58%) were from adenocarcinomas and 5 (42%) were from squamous cell carcinoma patients.

Conclusions: The utilization of EBUS-TBNA is an effective tool for obtaining genetically profiled diagnoses by minimally invasive means. As more genetic mutations are discovered, we expect that multigene mutation analysis will gain importance in tailoring individualized treatment plans.

Inborn errors of immunity (IEI), formerly known as primary immunodeficiencies (PID), comprise a diverse group of genetic disorders characterized by increased susceptibility to infections, autoimmunity, autoinflammatory conditions, allergies, and malignancies. These disorders exhibit a broad spectrum of clinical manifestations, including extra-hematopoietic manifestations, which may also present later in life. IEI diagnosis has significantly advanced, in line with the common use of next-generation sequencing-based genetic platforms, such as whole-exome and whole-genome sequencing. Treatment approaches have evolved beyond infection management to include curative therapies such as hematopoietic stem cell transplantation, gene therapy, and targeted pharmacologic treatments. In this review, we explore recent advancements in the understanding, diagnosis, and treatment of IEI, emphasizing the rapid progress in this expanding field.