Response to PD-1 blockade in microsatellite stable metastatic colorectal cancer harboring a POLE mutation

JNCCN Journal of the National Comprehensive Cancer Network

Volumn 15, Issue 2, 2017, Pages 142-147

  Gong, Jun ^a   Wang, Chongkai ^b   Lee, Peter P ^b   Chu, Peiguo ^b   Fakih, Marwan ^b  

^a Department of Medical Oncology ^*  (United States)

^b CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEVACIZUMAB; CARCINOEMBRYONIC ANTIGEN; DNA DIRECTED DNA POLYMERASE EPSILON; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; OXALIPLATIN; PEMBROLIZUMAB; ANTINEOPLASTIC AGENT; CD274 PROTEIN, HUMAN; DNA DIRECTED DNA POLYMERASE ALPHA; KRAS PROTEIN, HUMAN; MICROSATELLITE DNA; MONOCLONAL ANTIBODY; PDCD1 PROTEIN, HUMAN; POLE PROTEIN, HUMAN; PROGRAMMED DEATH 1 LIGAND 1; PROGRAMMED DEATH 1 RECEPTOR; PROTEIN P21;

ABDOMINAL RADIOGRAPHY; ABSENCE OF SIDE EFFECTS; AGED; ARTICLE; CANCER CHEMOTHERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER RECURRENCE; CANCER SURGERY; CASE REPORT; CLINICAL OBSERVATION; COLON ADENOCARCINOMA; COLON BIOPSY; COLONOSCOPY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FATIGUE; GENE EXPRESSION PROFILING; GENE MUTATION; HEMICOLECTOMY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHADENOPATHY; MAINTENANCE CHEMOTHERAPY; MALE; MESENTERY LYMPH NODE; METASTATIC COLORECTAL CANCER; MICROSATELLITE INSTABILITY; MULTIPLE CYCLE TREATMENT; NEXT GENERATION SEQUENCING; PARAAORTIC LYMPH NODE; PERIRENAL FAT; PHARMACOGENOMICS; PHENOTYPE; POLYMERASE CHAIN REACTION; RIGHT LIVER LOBE; SURGICAL MARGIN; TREATMENT RESPONSE; TUMOR ASSOCIATED LEUKOCYTE; TUMOR BIOPSY; TUMOR MICROENVIRONMENT; TUMOR VOLUME; VERY ELDERLY; X-RAY COMPUTED TOMOGRAPHY; ADENOCARCINOMA; ANTAGONISTS AND INHIBITORS; BIOPSY; CD8+ T LYMPHOCYTE; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; PATHOLOGY; PROCEDURES; TUMOR RECURRENCE;

ADENOCARCINOMA; AGED, 80 AND OVER; ANTIBODIES, MONOCLONAL, HUMANIZED; ANTIGENS, CD274; ANTINEOPLASTIC AGENTS; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BIOPSY; CARCINOEMBRYONIC ANTIGEN; CD8-POSITIVE T-LYMPHOCYTES; COLONOSCOPY; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA POLYMERASE II; DRUG RESISTANCE, NEOPLASM; GENE EXPRESSION PROFILING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LYMPHOCYTES, TUMOR-INFILTRATING; MALE; MICROSATELLITE REPEATS; MUTATION; NEOPLASM RECURRENCE, LOCAL; PROGRAMMED CELL DEATH 1 RECEPTOR; PROTO-ONCOGENE PROTEINS P21(RAS); TOMOGRAPHY, X-RAY COMPUTED; TUMOR MICROENVIRONMENT;

EID: 85016170378     PISSN: 15401405     EISSN: 15401413     Source Type: Journal    
DOI: 10.6004/jnccn.2017.0016     Document Type: Article

References (25)

1. Siegel RL, Miller KD, Jemal A. Cancer statistics, 2016. CA Cancer J Clin 2016;66:7-30.
2. Gong J, Cho M, Fakih M. RAS and BRAF in metastatic colorectal cancer management. J Gastrointest Oncol 2016;7:687-704.
3. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-337.
4. Le DT, Uram JN, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 2015;372:2509-2520.
5. Lin EI, Tseng LH, Gocke CD, et al. Mutational profiling of colorectal cancers with microsatellite instability. Oncotarget 2015;6:42334-42344.
6. Le DT, Uram JN, Wang H, et al. Programmed death-1 blockade in mismatch repair deficient colorectal cancer [abstract]. J Clin Oncol 2016;34(Suppl):Abstract 103.
7. Overman MJ, Kopetz S, McDermott RS, et al. Nivolumab ± ipilimumab in treatment (tx) of patients (pts) with metastatic colorectal cancer (mCRC) with and without high microsatellite instability (MSI-H): CheckMate-142 interim results [abstract]. J Clin Oncol 2016;34(Suppl):Abstract 3501.
8. Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-144.
9. Briggs S, Tomlinson I. Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 2013;230:148-153.
10. Kothari N, Teer JK, Abbott AM, et al. Increased incidence of FBXW7 and POLE proofreading domain mutations in young adult colorectal cancers. Cancer 2016;122:2828-2835.
11. Domingo E, Freeman-Mills L, Rayner E, et al. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. Lancet Gastroenterol Hepatol 2016;1:207-216.
12. Stadler ZK, Battaglin F, Middha S, et al. Reliable detection of mismatch repair deficiency in colorectal cancers using mutational load in next-generation sequencing panels. J Clin Oncol 2016;34:2141-2147.
13. Bellone S, Centritto F, Black J, et al. Polymerase ϵ (POLE) ultra-mutated tumors induce robust tumor-specific CD4+ T cell responses in endometrial cancer patients. Gynecol Oncol 2015;138:11-17.
14. van Gool IC, Eggink FA, Freeman-Mills L, et al. POLE proofreading mutations elicit an antitumor immune response in endometrial cancer. Clin Cancer Res 2015;21:3347-3355.
15. Howitt BE, Shukla SA, Sholl LM, et al. Association of polymerase e-mutated and microsatellite-instable endometrial cancers with neoantigen load, number of tumor-infiltrating lymphocytes, and expression of PD-1 and PD-L1. JAMA Oncol 2015;1:1319-1323.
16. Llosa NJ, Cruise M, Tam A, et al. The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints. Cancer Discov 2015;5:43-51.
17. Rizvi NA, Hellmann MD, Snyder A, et al. Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 2015;348:124-128.
18. Mehnert JM, Panda A, Zhong H, et al. Immune activation and response to pembrolizumab in POLE-mutant endometrial cancer. J Clin Invest 2016;126:2334-2340.
19. Santin AD, Bellone S, Buza N, et al. Regression of chemotherapy-resistant polymerase epsilon (POLE) ultra-mutated and MSH6 hyper-mutated endometrial tumors with nivolumab. Clin Cancer Res 2016;22:5682-5687.
20. Glaire MA, Domingo E, Vermeulen L, et al. POLE proofreading domain mutation defines a subset of immunogenic colorectal cancers with excellent prognosis [abstract]. Ann Oncol 2016;27(Suppl 6):Abstract 460O.
21. Hall MJ, Gowen K, Sanford EM, et al. Evaluation of microsatellite instability (MSI) status in gastrointestinal (GI) tumor samples tested with comprehensive genomic profiling (CGP) [abstract]. J Clin Oncol 2016;34(Suppl 4):Abstract 528.
22. Link JT, Overman MJ. Immunotherapy progress in mismatch repair-deficient colorectal cancer and future therapeutic challenges. Cancer J 2016;22:190-195.
23. Levine AJ, Phipps AI, Baron JA, et al. Clinicopathologic risk factor distributions for MLH1 promoter region methylation in CIMP-positive tumors. Cancer Epidemiol Biomarkers Prev 2016;25:68-75.
24. Jones S, Emmerson P, Maynard J, et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet 2002;11:2961-2967.
25. Markowitz S, Wang J, Myeroff L, et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995;268:1336-1338.