嗜铬杆菌介导的小细胞肺癌

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SCI 21 September 2024 Chromothripsis-mediated small cell lung carcinoma  (Cancer Discov, IF: 29.7) Rekhtman N, Tischfield SE, Febres-Aldana CA, et al: Chromothripsis-mediated small cell lung carcinoma. Cancer Discov 10.1158/2159-8290.CD-24–0286, 2024 Abstract  Small cell lung carcinoma (SCLC) is a highly aggressive malignancy that is typically associated with tobacco exposure and inactivation of RB1 and TP53 genes. Here we performed detailed clinicopathologic, genomic and transcriptomic profiling of an atypical subset of SCLC that lacked RB1 and TP53 co-inactivation and arose in never/light smokers. We found that most cases were associated with chromothripsis - massive, localized chromosome shattering - recurrently involving chromosomes 11 or 12, and resulting in extrachromosomal (ecDNA) amplification of CCND1 or co-amplification of CCND2/CDK4/MDM2, respectively. Uniquely, these clinically aggressive tumors exhibited genomic and pathologic links to pulmonary carcinoids, suggesting ………………………………