Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies

References

• Ikeda S, Goodman AM, Cohen PR, Jensen TJ, Ellison CK, Frampton G, Miller V, Patel SP, Kurzrock R. Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy. Npj Genomic Med. 2016;1:16037. doi:10.1038/npjgenmed.2016.37.
   PubMed Web of Science ®Google Scholar
• Uzquiano MC, Prieto VG, Nash JW, Ivan DS, Gong Y, Lazar AJ, Diwan AH. Metastatic basal cell carcinoma exhibits reduced actin expression. Mod Pathol. 2008;21(5):540–3. doi:10.1038/modpathol.3801051. PMID:18223552.
   PubMed Web of Science ®Google Scholar
• Vu A, Laub D. Metastatic Basal Cell Carcinoma: A Case Report and Review of the Literature. Eplasty. 2011;11,5(Suppl 1): S26–S29. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088016/. Accessed November 4, 2017. PMID:21559224
   PubMedGoogle Scholar
• Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer. 2008;8(10):743–54. doi:10.1038/nrc2503. PMID:18813320.
   PubMed Web of Science ®Google Scholar
• Sekulic A, Migden MR, Oro AE, Dirix L, Lewis KD, Hainsworth JD, Solomon JA, Yoo S, Arron ST, Friedlander PA, et al. Efficacy and Safety of Vismodegib in Advanced Basal-Cell Carcinoma. N Engl J Med. 2012;366(23):2171–9. doi:10.1056/NEJMoa1113713. PMID:22670903.
   PubMed Web of Science ®Google Scholar
• Migden MR, Guminski A, Gutzmer R, Dirix L, Lewis KD, Combemale P, Herd RM, Kudchadkar R, Trefzer U, Gogov S, et al. Treatment with two different doses of sonidegib in patients with locally advanced or metastatic basal cell carcinoma (BOLT): a multicentre, randomised, double-blind phase 2 trial. Lancet Oncol. 2015;16(6):716–28. doi:10.1016/S1470-2045(15)70100-2. PMID:25981810.
   PubMed Web of Science ®Google Scholar
• Goodman A, Patel SP, Kurzrock R. PD-1-PD-L1 immune-checkpoint blockade in B-cell lymphomas. Nat Rev Clin Oncol. 2017;14:203–20. doi:10.1038/nrclinonc.2016.168. PMID:27805626
   PubMed Web of Science ®Google Scholar
• Patel SP, Kurzrock R. PD-L1 Expression as a Predictive Biomarker in Cancer Immunotherapy. Mol Cancer Ther. 2015;14(4):847–56. doi:10.1158/1535-7163.MCT-14-0983. PMID:25695955.
   PubMed Web of Science ®Google Scholar
• Chang J, Zhu GA, Cheung C, Li S, Kim J, Chang ALS. Association Between Programmed Death Ligand 1 Expression in Patients With Basal Cell Carcinomas and the Number of Treatment Modalities. JAMA Dermatol. 2017;153(4):285–90. doi:10.1001/jamadermatol.2016.5062.
   Web of Science ®Google Scholar
• Jayaraman SS, Rayhan DJ, Hazany S, Kolodney MS. Mutational landscape of basal cell carcinomas by whole-exome sequencing. J Invest Dermatol. 2014;134(1):213–20. doi:10.1038/jid.2013.276. PMID:23774526.
   PubMed Web of Science ®Google Scholar
• Lipson EJ, Lilo MT, Ogurtsova A, Esandrio J, Xu H, Brothers P, Schollenberger M, Sharfman WH, Taube JM. Basal cell carcinoma: PD-L1/PD-1 checkpoint expression and tumor regression after PD-1 blockade. J Immunother Cancer. 2017;176(2):498–502. doi:10.1186/s40425-017-0228-3. PMID:28344809
   PubMed Web of Science ®Google Scholar
• Winkler JK, Schneiderbauer R, Bender C, Sedlaczek O, Fröhling S, Penzel R, Enk A, Hassel JC. Anti-programmed cell death-1 therapy in nonmelanoma skin cancer. Br J Dermatol. 2017;176(2):498–502. doi:10.1111/bjd.14664. PMID:27061826.
   PubMed Web of Science ®Google Scholar
• Goodman AM, Kato S, Bazhenova L, Patel SP, Frampton GM, Miller V, Stephens PJ, Daniels GA, Kurzrock R. Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers. Mol Cancer Ther. 2017;16(11):2598–608. doi:10.1158/1535-7163.MCT-17-0386. PMID:28835386
   PubMed Web of Science ®Google Scholar
• Ansell SM, Lesokhin AM, Borrello I, Halwani A, Scott EC, Gutierrez M, Schuster SJ, Millenson MM, Cattry D, Freeman GJ, et al. PD-1 Blockade with Nivolumab in Relapsed or Refractory Hodgkin's Lymphoma. N Engl J Med. 2015;372(4):311–9. doi:10.1056/NEJMoa1411087. PMID:25482239.
   PubMed Web of Science ®Google Scholar
• Johnson DB, Frampton GM, Rioth MJ, Yusko E, Xu Y, Guo X, Ennis RC, Fabrizio D, Chalmers ZR, Greenbowe J, et al. Targeted Next Generation Sequencing Identifies Markers of Response to PD-1 Blockade. Cancer Immunol Res. 2016;4(11):959–67. doi:10.1158/2326-6066.CIR-16-0143.
   Web of Science ®Google Scholar
• Rosenberg JE, Hoffman-Censits J, Powles T, van der Heijden MS, Balar AV, Necchi A, Dawson N, O'Donnell PH, Balmanoukian A, Loriot Y, et al. Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinum-based chemotherapy: a single-arm, multicentre, phase 2 trial. Lancet Lond Engl. 2016;387(10031):1909–20. doi:10.1016/S0140-6736(16)00561-4.
   Google Scholar
• Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ1, McKee T, Letourneau A, et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nat Genet. 2016;48(4):398–406. doi:10.1038/ng.3525. PMID:26950094.
   PubMed Web of Science ®Google Scholar
• Roemer MGM, Advani RH, Ligon AH, Natkunam Y, Redd RA, Homer H, Connelly CF, Sun HH, Daadi SE, Freeman GJ, et al. PD-L1 and PD-L2 Genetic Alterations Define Classical Hodgkin Lymphoma and Predict Outcome. J Clin Oncol. 2016;34(23):2690–97. doi:10.1200/JCO.2016.66.4482. PMID:27069084.
   PubMed Web of Science ®Google Scholar
• Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, Schnall-Levin M, White J, Sanford EM, An P, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31(11):1023–31. doi:10.1038/nbt.2696. PMID:24142049.
   PubMed Web of Science ®Google Scholar
• Armand P, Shipp M, Ribrag V, et al. PD-1 Blockade with Pembrolizumab in Patients with Classical Hodgkin Lymphoma after Brentuximab Vedotin Failure: Safety, Efficacy, and Biomarker Assessment (KEYNOTE-013) [abstract]. American Society of Hematology Annual Meeting 2016;34(31):3733–39.
   Google Scholar
• Sherr CJ, Beach D, Shapiro GI. Targeting CDK4 and CDK6: From Discovery to Therapy. Cancer Discov. 2016;6(4):353–67. doi:10.1158/2159-8290.CD-15-0894. PMID:26658964.
   PubMed Web of Science ®Google Scholar
• Samadder N, Neklason DW, Boucher KM, Byrne KR, Kanth P, Samowitz W, Jones D, Tavtigian SV, Done MW, Berry T, et al. Effect of sulindac and erlotinib vs placebo on duodenal neoplasia in familial adenomatous polyposis: A randomized clinical trial. JAMA. 2016;315(12):1266–75. doi:10.1001/jama.2016.2522. PMID:27002448.
   PubMed Web of Science ®Google Scholar
• Marquez-Medina D, Popat S. Afatinib: a second-generation EGF receptor and ErbB tyrosine kinase inhibitor for the treatment of advanced non-small-cell lung cancer. Future Oncol Lond Engl. 2015;11(18):2525–40. doi:10.2217/fon.15.183..
   PubMed Web of Science ®Google Scholar
• Furumoto Y, Gadina M. The arrival of JAK inhibitors: advancing the treatment of immune and hematologic disorders. BioDrugs Clin Immunother Biopharm Gene Ther. 2013;27(5):431–8. doi:10.1007/s40259-013-0040-7..
   Google Scholar
• Infante JR, Fecher LA, Falchook GS, Nallapareddy S, Gordon MS, Becerra C, DeMarini DJ, Cox DS, Xu Y, Morris SR, et al. Safety, pharmacokinetic, pharmacodynamic, and efficacy data for the oral MEK inhibitor trametinib: a phase 1 dose-escalation trial. Lancet Oncol. 2012;13(8):773–81. doi:10.1016/S1470-2045(12)70270-X. PMID:22805291.
   PubMed Web of Science ®Google Scholar
• Loaiza-Bonilla A, Jensen CE, Shroff S, Furth E, Bonilla-Reyes PA, Deik AF, Morrissette J. KDR Mutation as a Novel Predictive Biomarker of Exceptional Response to Regorafenib in Metastatic Colorectal Cancer. Cureus. 8(2). doi:10.7759/cureus.478..
   PubMedGoogle Scholar
• Lasota J, Miettinen M. KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol. 2006;23(2):91–102. doi:10.1053/j.semdp.2006.08.006. PMID:17193822.
   PubMed Web of Science ®Google Scholar
• Weigelt B, Warne PH, Lambros MB, Reis-Filho JS, Downward J. PI3 K pathway dependencies in endometrioid endometrial cancer cell lines. Clin Cancer Res Off J Am Assoc Cancer Res. 2013;19(13):3533–44. doi:10.1158/1078-0432.CCR-12-3815..
   PubMed Web of Science ®Google Scholar
• Janku F, Hong DS, Fu S, Piha-Paul SA, Naing A, Falchook GS, Tsimberidou AM, Stepanek VM, Moulder SL, Lee JJ, et al. Assessing PIK3CA and PTEN in early-phase trials with PI3 K/AKT/mTOR inhibitors. Cell Rep. 2014;6(2):377–87. doi:10.1016/j.celrep.2013.12.035. PMID:24440717.
   PubMed Web of Science ®Google Scholar
• Said R, Hong DS, Warneke CL, Lee JJ, Wheler JJ, Janku F, Naing A, Falchook GS, Fu S, Piha-Paul S, et al. P53 Mutations in Advanced Cancers: Clinical Characteristics, Outcomes, and Correlation between Progression-Free Survival and Bevacizumab-Containing Therapy. Oncotarget. 2013;4(5):705–14. doi:10.18632/oncotarget.974. PMID:23670029.
   PubMed Web of Science ®Google Scholar
• Schwaederle M, Vladimir L, Validire P, Hansson J, Lacroix L, Soria JC, Pawitan Y, Kurzrock R. VEGF-A Expression Correlates with TP53 Mutations in Non-Small Cell Lung Cancer: Implications for Anti-Angiogenesis Therapy. Cancer Res. 2015;75(7):1187–90. doi:10.1158/0008-5472.CAN-14-2305.
   Google Scholar
• Koehler K, Liebner D, Chen JL. TP53 mutational status is predictive of pazopanib response in advanced sarcomas. Ann Oncol. 2016;27(3):539–43. doi:10.1093/annonc/mdv598.
   Web of Science ®Google Scholar
• Iyer G, Hanrahan AJ, Milowsky MI, Al-Ahmadie H, Scott SN, Janakiraman M, Pirun M, Sander C, Socci ND, Ostrovnaya I, et al. Genome Sequencing Identifies a Basis for Everolimus Sensitivity. Science. 2012;338(6104):221–221. doi:10.1126/science.1226344. PMID:22923433.
   PubMed Web of Science ®Google Scholar