Genetic Alteration and Their Significance on Clinical Events in Small Cell Lung Cancer

References

• Siegel RL, Miller KD, Jemal A. Cancer statistics, 2020. CA Cancer J Clin. 2020;70(1):7–30. doi:10.3322/caac.21590
   PubMed Web of Science ®Google Scholar
• Simon GR, Wagner H. Small cell lung cancer. Chest. 2003;123(1Suppl):259s–271s. doi:10.1378/chest.123.1_suppl.259S
   PubMed Web of Science ®Google Scholar
• Asamura H, Kameya T, Matsuno Y, et al. Neuroendocrine neoplasms of the lung: a prognostic spectrum. J Clin Oncol. 2006;24(1):70–76. doi:10.1200/JCO.2005.04.1202
   PubMed Web of Science ®Google Scholar
• Offin M, Chan JM, Tenet M, et al. Concurrent RB1 and TP53 alterations define a subset of EGFR-mutant lung cancers at risk for histologic transformation and inferior clinical outcomes. J Thorac Oncol. 2019;14(10):1784–1793. doi:10.1016/j.jtho.2019.06.002
   PubMed Web of Science ®Google Scholar
• Rudin CM, Brambilla E, Faivre-Finn C, Sage J. Small-cell lung cancer. Nat Rev Dis Primers. 2021;7(1):3. doi:10.1038/s41572-020-00235-0
   PubMed Web of Science ®Google Scholar
• Ortega-Franco A, Ackermann C, Paz-Ares L, Califano R. First-line immune checkpoint inhibitors for extensive stage small-cell lung cancer: clinical developments and future directions. ESMO Open. 2021;6(1):100003. doi:10.1016/j.esmoop.2020.100003
   PubMed Web of Science ®Google Scholar
• Tay RY, Heigener D, Reck M, Califano R. Immune checkpoint blockade in small cell lung cancer. Lung Cancer. 2019;137:31–37. doi:10.1016/j.lungcan.2019.08.024
   PubMed Web of Science ®Google Scholar
• Qiu MJ, Xia Q, Chen YB, et al. The expression of three negative co-stimulatory B7 family molecules in small cell lung cancer and their effect on prognosis. Front Oncol. 2021;11:600238. doi:10.3389/fonc.2021.600238
   PubMed Web of Science ®Google Scholar
• Carvajal-Hausdorf D, Altan M, Velcheti V, et al. Expression and clinical significance of PD-L1, B7-H3, B7-H4 and TILs in human small cell lung Cancer (SCLC). J Immunother Cancer. 2019;7(1):65. doi:10.1186/s40425-019-0540-1
   PubMed Web of Science ®Google Scholar
• Liang SK, Hsu CC, Song HL, et al. FOXM1 is required for small cell lung cancer tumorigenesis and associated with poor clinical prognosis. Oncogene. 2021;40:4847–4858.
   PubMed Web of Science ®Google Scholar
• Li L, Ng SR, Colón CI, et al. Identification of DHODH as a therapeutic target in small cell lung cancer. Sci Transl Med. 2019;11(517). doi:10.1126/scitranslmed.aaw7852.
   Web of Science ®Google Scholar
• Shue YT, Lim JS, Sage J. Tumor heterogeneity in small cell lung cancer defined and investigated in pre-clinical mouse models. Transl Lung Cancer Res. 2018;7(1):21–31. doi:10.21037/tlcr.2018.01.15
   PubMed Web of Science ®Google Scholar
• Saltos A, Shafique M, Chiappori A. Update on the biology, management, and treatment of Small Cell Lung Cancer (SCLC). Front Oncol. 2020;10:1074. doi:10.3389/fonc.2020.01074
   PubMed Web of Science ®Google Scholar
• Rudin CM, Poirier JT, Byers LA, et al. Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data. Nat Rev Cancer. 2019;19(5):289–297. doi:10.1038/s41568-019-0133-9
   PubMed Web of Science ®Google Scholar
• Gay CM, Stewart CA, Park EM, et al. Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities. Cancer Cell. 2021;39(3):346–360.e347. doi:10.1016/j.ccell.2020.12.014
   PubMed Web of Science ®Google Scholar
• Gazdar AF, Bunn PA, Minna JD. Small-cell lung cancer: what we know, what we need to know and the path forward. Nat Rev Cancer. 2017;17(12):725–737. doi:10.1038/nrc.2017.87
   PubMed Web of Science ®Google Scholar
• Brägelmann J, Böhm S, Guthrie MR, Mollaoglu G, Oliver TG, Sos ML. Family matters: how MYC family oncogenes impact small cell lung cancer. Cell Cycle. 2017;16(16):1489–1498. doi:10.1080/15384101.2017.1339849
   PubMed Web of Science ®Google Scholar
• Wang S, Zimmermann S, Parikh K, Mansfield AS, Adjei AA. Current diagnosis and management of small-cell lung cancer. Mayo Clin Proc. 2019;94(8):1599–1622. doi:10.1016/j.mayocp.2019.01.034
   PubMed Web of Science ®Google Scholar
• Mao X, Zhang Z, Zheng X, et al. Capture-based targeted ultradeep sequencing in Paired tissue and plasma samples demonstrates differential subclonal ctDNA-releasing capability in advanced lung cancer. J Thorac Oncol. 2017;12(4):663–672. doi:10.1016/j.jtho.2016.11.2235
   PubMed Web of Science ®Google Scholar
• Li YS, Jiang BY, Yang JJ, et al. Unique genetic profiles from cerebrospinal fluid cell-free DNA in leptomeningeal metastases of EGFR-mutant non-small-cell lung cancer: a new medium of liquid biopsy. Ann Oncol. 2018;29(4):945–952. doi:10.1093/annonc/mdy009
   PubMed Web of Science ®Google Scholar
• Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–1760. doi:10.1093/bioinformatics/btp324
   PubMed Web of Science ®Google Scholar
• Mckenna A, Hanna M, Banks E, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–1303. doi:10.1101/gr.107524.110
   PubMed Web of Science ®Google Scholar
• Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164. doi:10.1093/nar/gkq603
   PubMed Web of Science ®Google Scholar
• Newman AM, Bratman SV, Stehr H, et al. FACTERA: a practical method for the discovery of genomic rearrangements at breakpoint resolution. Bioinformatics. 2014;30(23):3390–3393. doi:10.1093/bioinformatics/btu549
   PubMed Web of Science ®Google Scholar
• Paz-Ares L, Dvorkin M, Chen Y, et al. Durvalumab plus platinum-etoposide versus platinum-etoposide in first-line treatment of extensive-stage small-cell lung cancer (CASPIAN): a randomised, controlled, open-label, Phase 3 trial. Lancet. 2019;394(10212):1929–1939. doi:10.1016/S0140-6736(19)32222-6
   PubMed Web of Science ®Google Scholar
• Roper N, Velez MJ, Chiappori A, et al. Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer. Nat Commun. 2021;12(1):3880. doi:10.1038/s41467-021-24164-y
   PubMed Web of Science ®Google Scholar
• Barrows ED, Blackburn MJ, Liu SV. Evolving role of immunotherapy in small cell lung cancer. Semin Cancer Biol. 2022. doi:10.1016/j.semcancer.2022.02.021
   PubMed Web of Science ®Google Scholar
• Peifer M, Fernández-Cuesta L, Sos ML, et al. Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet. 2012;44(10):1104–1110. doi:10.1038/ng.2396
   PubMed Web of Science ®Google Scholar
• Meuwissen R, Linn SC, Linnoila RI, Zevenhoven J, Mooi WJ, Berns A. Induction of small cell lung cancer by somatic inactivation of both Trp53 and Rb1 in a conditional mouse model. Cancer Cell. 2003;4(3):181–189. doi:10.1016/S1535-6108(03)00220-4
   PubMed Web of Science ®Google Scholar
• Olsen RR, Ireland AS, Kastner DW, et al. ASCL1 represses a SOX9(+) neural crest stem-like state in small cell lung cancer. Genes Dev. 2021;35(11–12):847–869. doi:10.1101/gad.348295.121
   PubMed Web of Science ®Google Scholar
• George J, Lim JS, Jang SJ, et al. Comprehensive genomic profiles of small cell lung cancer. Nature. 2015;524(7563):47–53. doi:10.1038/nature14664
   PubMed Web of Science ®Google Scholar
• Brown LC, Tucker MD, Sedhom R, et al. LRP1B mutations are associated with favorable outcomes to immune checkpoint inhibitors across multiple cancer types. J Immunother Cancer. 2021;9(3):e001792. doi:10.1136/jitc-2020-001792
   PubMed Web of Science ®Google Scholar
• Chen H, Chong W, Wu Q, Yao Y, Mao M, Wang X. Association of LRP1B mutation with tumor mutation burden and outcomes in melanoma and non-small cell lung cancer patients treated with immune check-point blockades. Front Immunol. 2019;10:1113. doi:10.3389/fimmu.2019.01113
   PubMed Web of Science ®Google Scholar
• Asano Y, Takeuchi T, Okubo H, et al. Nuclear localization of LDL receptor-related protein 1B in mammary gland carcinogenesis. J Mol Med (Berl). 2019;97(2):257–268. doi:10.1007/s00109-018-01732-2
   PubMed Web of Science ®Google Scholar
• Edwards ZC, Trotter EW, Torres-Ayuso P, et al. Survival of head and neck cancer cells relies upon LZK kinase-mediated stabilization of mutant p53. Cancer Res. 2017;77(18):4961–4972. doi:10.1158/0008-5472.CAN-17-0267
   PubMed Web of Science ®Google Scholar
• Zhang Q, Li X, Cui K, et al. The MAP3K13-TRIM25-FBXW7α axis affects c-Myc protein stability and tumor development. Cell Death Differ. 2020;27(2):420–433. doi:10.1038/s41418-019-0363-0
   PubMed Web of Science ®Google Scholar
• Thirumal Kumar D, Susmita B, Judith E, Priyadharshini Christy J, George Priya Doss C, Zayed H. Elucidating the role of interacting residues of the MSH2-MSH6 complex in DNA repair mechanism: a computational approach. Adv Protein Chem Struct Biol. 2019;115:325–350.
   PubMed Web of Science ®Google Scholar
• Ling C, Yang W, Sun H, et al. Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome. Clin Case Rep. 2018;6(8):1448–1451. doi:10.1002/ccr3.1564
   PubMed Web of Science ®Google Scholar
• Itkonen HM, Kantelinen J, Vaara M, et al. Human DNA polymerase α interacts with mismatch repair proteins MSH2 and MSH6. FEBS Lett. 2016;590(23):4233–4241. doi:10.1002/1873-3468.12475
   PubMed Web of Science ®Google Scholar
• Radio FC, Pang K, Ciolfi A, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021;108(3):502–516. doi:10.1016/j.ajhg.2021.01.015
   PubMed Web of Science ®Google Scholar
• Dossin F, Pinheiro I, Żylicz JJ, et al. SPEN integrates transcriptional and epigenetic control of X-inactivation. Nature. 2020;578(7795):455–460. doi:10.1038/s41586-020-1974-9
   PubMed Web of Science ®Google Scholar
• Edelmann J, Holzmann K, Tausch E, et al. Genomic alterations in high-risk chronic lymphocytic leukemia frequently affect cell cycle key regulators and NOTCH1-regulated transcription. Haematologica. 2020;105(5):1379–1390. doi:10.3324/haematol.2019.217307
   PubMed Web of Science ®Google Scholar
• Li Y, Lv Y, Cheng C, et al. SPEN induces miR-4652-3p to target HIPK2 in nasopharyngeal carcinoma. Cell Death Dis. 2020;11(7):509. doi:10.1038/s41419-020-2699-2
   PubMed Web of Science ®Google Scholar
• Légaré S, Chabot C, Basik M. SPEN, a new player in primary cilia formation and cell migration in breast cancer. Breast Cancer Res. 2017;19(1):104. doi:10.1186/s13058-017-0897-3
   PubMed Web of Science ®Google Scholar
• Légaré S, Cavallone L, Mamo A, et al. The estrogen receptor cofactor SPEN functions as a tumor suppressor and candidate biomarker of drug responsiveness in hormone-dependent breast cancers. Cancer Res. 2015;75(20):4351–4363. doi:10.1158/0008-5472.CAN-14-3475
   PubMed Web of Science ®Google Scholar
• Feng Y, Bommer GT, Zhai Y, et al. Drosophila split ends homologue SHARP functions as a positive regulator of Wnt/beta-catenin/T-cell factor signaling in neoplastic transformation. Cancer Res. 2007;67(2):482–491. doi:10.1158/0008-5472.CAN-06-2314
   PubMed Web of Science ®Google Scholar
• Vogt PK, Bader AG, Kang S. Phosphoinositide 3-kinase: from viral oncoprotein to drug target. Virology. 2006;344(1):131–138. doi:10.1016/j.virol.2005.09.027
   PubMed Web of Science ®Google Scholar
• Engelman JA, Luo J, Cantley LC. The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nat Rev Genet. 2006;7(8):606–619. doi:10.1038/nrg1879
   PubMed Web of Science ®Google Scholar
• Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science. 2004;304(5670):554. doi:10.1126/science.1096502
   PubMed Web of Science ®Google Scholar
• Meng F, Zhang L. miR-183-5p functions as a tumor suppressor in lung cancer through PIK3CA inhibition. Exp Cell Res. 2019;374(2):315–322. doi:10.1016/j.yexcr.2018.12.003
   PubMed Web of Science ®Google Scholar
• Han N, Cheng QY, Chen B, et al. PIK3CA mutations in resected small cell lung cancer. Adv Clin Exp Med. 2016;25(3):397–402. doi:10.17219/acem/25928
   PubMed Web of Science ®Google Scholar
• Samuels Y, Velculescu VE. Oncogenic mutations of PIK3CA in human cancers. Cell Cycle. 2004;3(10):1221–1224. doi:10.4161/cc.3.10.1164
   PubMed Web of Science ®Google Scholar
• Kawano O, Sasaki H, Endo K, et al. PIK3CA mutation status in Japanese lung cancer patients. Lung Cancer. 2006;54(2):209–215. doi:10.1016/j.lungcan.2006.07.006
   PubMed Web of Science ®Google Scholar
• García-Rostán G, Costa AM, Pereira-Castro I, et al. Mutation of the PIK3CA gene in anaplastic thyroid cancer. Cancer Res. 2005;65(22):10199–10207. doi:10.1158/0008-5472.CAN-04-4259
   PubMed Web of Science ®Google Scholar
• Liu Z, Roberts TM. Human tumor mutants in the p110alpha subunit of PI3K. Cell Cycle. 2006;5(7):675–677. doi:10.4161/cc.5.7.2605
   PubMed Web of Science ®Google Scholar
• Shibata T, Kokubu A, Tsuta K, Hirohashi S. Oncogenic mutation of PIK3CA in small cell lung carcinoma: a potential therapeutic target pathway for chemotherapy-resistant lung cancer. Cancer Lett. 2009;283(2):203–211. doi:10.1016/j.canlet.2009.03.038
   PubMed Web of Science ®Google Scholar
• Morris LG, Kaufman AM, Gong Y, et al. Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation. Nat Genet. 2013;45(3):253–261. doi:10.1038/ng.2538
   PubMed Web of Science ®Google Scholar
• Dotto GP, Rustgi AK. Squamous cell cancers: a unified perspective on biology and genetics. Cancer Cell. 2016;29(5):622–637. doi:10.1016/j.ccell.2016.04.004
   PubMed Web of Science ®Google Scholar
• Santana NO, Lerario AM, Schmerling CK, et al. Molecular profile of Hürthle cell carcinomas: recurrent mutations in the Wnt/β-catenin pathway. Eur J Endocrinol. 2020;183(6):647–656. doi:10.1530/EJE-20-0597
   PubMed Web of Science ®Google Scholar
• Hsu TN, Huang CM, Huang CS, et al. Targeting FAT1 inhibits carcinogenesis, induces oxidative stress and enhances cisplatin sensitivity through deregulation of LRP5/WNT2/GSS signaling axis in oral squamous cell carcinoma. Cancers. 2019;11(12):1883. doi:10.3390/cancers11121883
   PubMed Web of Science ®Google Scholar
• Lustig B, Behrens J. The Wnt signaling pathway and its role in tumor development. J Cancer Res Clin Oncol. 2003;129(4):199–221. doi:10.1007/s00432-003-0431-0
   PubMed Web of Science ®Google Scholar
• Pastushenko I, Mauri F, Song Y, et al. Fat1 deletion promotes hybrid EMT state, tumour stemness and metastasis. Nature. 2021;589(7842):448–455. doi:10.1038/s41586-020-03046-1
   PubMed Web of Science ®Google Scholar
• Chen Z, Zhang C, Chen J, et al. The proteomic landscape of growth factor signaling networks associated with FAT1 mutations in head and neck cancers. Cancer Res. 2021. doi:10.1158/0008-5472.can-20-3659
   Web of Science ®Google Scholar
• Xu J, Wang B, Liu ZT, Lai MC, Zhang ML, Zheng SS. miR-223-3p regulating the occurrence and development of liver cancer cells by targeting FAT1 gene. Math Biosci Eng. 2019;17(2):1534–1547. doi:10.3934/mbe.2020079
   PubMed Web of Science ®Google Scholar
• Valletta D, Czech B, Spruss T, et al. Regulation and function of the atypical cadherin FAT1 in hepatocellular carcinoma. Carcinogenesis. 2014;35(6):1407–1415. doi:10.1093/carcin/bgu054
   PubMed Web of Science ®Google Scholar
• Farago AF, Yeap BY, Stanzione M, et al. Combination olaparib and temozolomide in relapsed small-cell lung cancer. Cancer Discov. 2019;9(10):1372–1387. doi:10.1158/2159-8290.CD-19-0582
   PubMed Web of Science ®Google Scholar
• Wang XW, Hu N, Cui L, et al. Durable disease-free survival in a patient with metastatic triple-negative breast cancer treated with olaparib monotherapy. Curr Cancer Drug Targets. 2022;22. doi:10.2174/1568009622666220214092207
   Web of Science ®Google Scholar
• Martin NA, Hanna M, Ehret C, Asiedu G, Jatoi A. Olaparib for ovarian cancer: a single-institution, multi-site qualitative study. Support Care Cancer. 2022. doi:10.1007/s00520-022-06879-w
   Web of Science ®Google Scholar