Data from Pathways Impacted by Genomic Alterations in Pulmonary Carcinoid Tumors

• DOI: 10.1158/1078-0432.c.6525944.v1
• Publication Date: 2023-04-01T06:30:21Z
• Authors: Michael K. Asiedu; Charles F. Thomas; Jie Dong; Sandra C. Schulte; Prasidda Khadka; Zhifu Sun; Farhad Kosari; Jin Jen; Julian Molina; George Vasmatzis; Ray Kuang; Marie Christine A...; Ping Yang; Dennis A. Wigle
• Keywords: Carcinoid tumors

<div>Abstract<p><b>Purpose:</b> Pulmonary carcinoid tumors account for up to 5% of all lung malignancies in adults, comprise 30% malignancies, and are defined histologically as typical (TC) atypical (AC) tumors. The role specific genomic alterations the pathogenesis pulmonary remains poorly understood. We sought identify pathways that deregulated these find novel therapeutic targets tumors.</p><p><b>Experimental Design:</b> performed integrated analysis comprising whole genome exome sequencing, mRNA expression profiling SNP genotyping specimens from normal lung, TC AC, small cell carcinoma (SCLC) fully represent neuroendocrine tumor spectrum.</p><p><b>Results:</b> Analysis sequencing data found recurrent mutations cancer genes including <i>ATP1A2, CNNM1, MACF1, RAB38, NF1, RAD51C, TAF1L, EPHB2, POLR3B</i>, <i>AGFG1</i>. mutated involved biological processes cellular metabolism, division cycle, death, apoptosis, immune regulation. top most significantly were <i>TMEM41B, DEFB127, WDYHV1,</i> <i>TBPL1</i>. Pathway driver implicated MAPK/ERK amyloid beta precursor protein (APP) whereas CNV gene suggested deregulation NF-κB pathways. mutation signature was predominantly C>T T>C transitions with a minor contribution T>G transversions.</p><p><b>Conclusions:</b> This study identified affecting relevant could provide opportunities developing targeted therapies <i>Clin Cancer Res; 24(7); 1691–704. ©2018 AACR</i>.</p></div>