Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma

摘要: NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there no standard for management primary pulmonary NMC. This study aimed to confirm clinical features and report treatments, especially with immune checkpoint inhibitors (ICIs), outcomes patients A retrospective review was performed in First Affiliated Hospital Guangzhou Medical University between January 2015 December 2018. Clinical manifestations as well radiographic pathological findings were recorded. Whole-exome sequencing (WES), predictor ICI response, used determine tumour mutational burden (TMB). Treatments, blockade, patient survival analysed. Seven mass (four men three women) mean age 42 years (range, 23–74) who diagnosed according immunohistochemistry staining included analysis. One had fusion CHRM5-NUTM1 sequencing. wide range TMB (1.75–73.81 mutations/Mbp) observed. The initial treatments chemotherapy (5/7, 71.4%), surgery (1/7, 14.3%), radiotherapy 14.3%). Five 71.4%) received ICIs (programmed death protein [PD1]/programmed ligand [PDL1] monoclonal antibody) second- or higher-line treatments. median overall (OS) 4.1 months 1.5–26.7 months). Patients have poor prognosis often preferred. Checkpoint immunotherapy good option treatment. seems be not associated OS.