Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts.
DNA mismatch repair
endometrial carcinoma
gastrointestinal cancer
immunohistochemistry
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
29
08
2019
accepted:
30
10
2019
pubmed:
5
11
2019
medline:
2
12
2020
entrez:
3
11
2019
Statut:
ppublish
Résumé
The role of mismatch repair (MMR) testing has evolved from identifying Lynch syndrome patients to predicting response to immune checkpoint inhibitors. This has led to requests from clinicians to retest recurrences of MMR-proficient primary tumours in the hope that the recurrence may show a different MMR status and qualify the patient for treatment. We aimed to determine whether repeat testing is warranted. We evaluated recurrent tumours (local recurrences or metastases) from 137 patients with MMR-proficient primary tumours of the gastrointestinal and gynaecological tracts. The local recurrences and metastases all occurred at least 30 days after resection of the primary tumour. We used a combination of a tissue microarray and whole slide staining to perform immunohistochemistry (IHC) for PMS2, MLH1, MSH2, and MSH6, and compared the results with the MMR status of the primary tumour. Three of 137 (2%) initially showed a discordant staining pattern. However, further investigation showed that these discordances were attributable to some of the known pitfalls associated with MMR IHC interpretation - post-radiotherapy loss of MSH6 expression and subclonal loss of MLH1 staining. We did not identify any cases with a genuine discordance in MMR status. We conclude that repeat MMR IHC testing of recurrences is not warranted, as MMR status does not change relative to that of the primary tumour.
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
521-530Informations de copyright
© 2019 John Wiley & Sons Ltd.
Références
Le DT, Durham JN, Smith KN et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 2017; 357; 409-413.
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.
Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363; 558-561.
Risinger JI, Berchuck A, Kohler MF, Watson P, Lynch HT, Boyd J. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res. 1993; 53; 5100-5103.
Chen W, Frankel WL. A practical guide to biomarkers for the evaluation of colorectal cancer. Mod. Pathol. 2019; 32; S1-S15.
Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin. Genet. 2009; 76; 1-18.
Giardiello FM, Allen JI, Axilbund JE et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am. J. Gastroenterol. 2014; 109; 1159-1179.
Committee on Practice Bulletins-Gynecology; Society of Gynecologic Oncology. ACOG Practice Bulletin No. 147: Lynch syndrome. Obstet. Gynecol. 2014; 124; 1042-1054.
Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J. Mol. Diagn. 2008; 10; 293-300.
Sargent DJ, Marsoni S, Monges G et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J. Clin. Oncol. 2010; 28; 3219-3226.
Lemery S, Keegan P, Pazdur R. First FDA approval agnostic of cancer site - when a biomarker defines the indication. N. Engl. J. Med. 2017; 377; 1409-1412.
Sepulveda AR, Hamilton SR, Allegra CJ et al. Molecular biomarkers for the evaluation of colorectal cancer: Guideline summary from the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology. J. Oncol. Pract. 2017; 13; 333-337.
Baas JM, Krens LL, Guchelaar HJ, Morreau H, Gelderblom H. Concordance of predictive markers for EGFR inhibitors in primary tumors and metastases in colorectal cancer: a review. Oncologist 2011; 16; 1239-1249.
Cejas P, Lopez-Gomez M, Aguayo C et al. Analysis of the concordance in the EGFR pathway status between primary tumors and related metastases of colorectal cancer patients: implications for cancer therapy. Curr. Cancer Drug Targets 2012; 12; 124-131.
Vakiani E, Janakiraman M, Shen R et al. Comparative genomic analysis of primary versus metastatic colorectal carcinomas. J. Clin. Oncol. 2012; 30; 2956-2962.
Adar T, Rodgers LH, Shannon KM et al. A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. Mod. Pathol. 2017; 30; 440-447.
Bao F, Panarelli NC, Rennert H, Sherr DL, Yantiss RK. Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinoma. Am. J. Surg. Pathol. 2010; 34; 1798-1804.
Yim KL. Microsatellite instability in metastatic colorectal cancer: a review of pathology, response to chemotherapy and clinical outcome. Med. Oncol. 2012; 29; 1796-1801.
Vogelstein B, Fearon ER, Hamilton SR et al. Genetic alterations during colorectal-tumor development. N. Engl. J. Med. 1988; 319; 525-532.
Molinari C, Marisi G, Passardi A, Matteucci L, De Maio G, Ulivi P. Heterogeneity in colorectal cancer: a challenge for personalized medicine? Int. J. Mol. Sci. 2018; 19; 3733-3751.
Joost P, Veurink N, Holck S et al. Heterogenous mismatch-repair status in colorectal cancer. Diagn. Pathol. 2014; 9; 126-136.
Watkins JC, Nucci MR, Ritterhouse LL, Howitt BE, Sholl LM. Unusual mismatch repair immunohistochemical patterns in endometrial carcinoma. Am. J. Surg. Pathol. 2016; 40; 909-916.
Roth RM, Haraldsdottir S, Hampel H, Arnold CA, Frankel WL. Discordant mismatch repair protein immunoreactivity in Lynch syndrome-associated neoplasms: a recommendation for screening synchronous/metachronous neoplasms. Am. J. Clin. Pathol. 2016; 146; 50-56.
Haraldsdottir S, Roth R, Pearlman R, Hampel H, Arnold CA, Frankel WL. Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis. Fam. Cancer 2016; 15; 253-260.
Ta RM, Hecht JL, Lin DI. Discordant loss of mismatch repair proteins in advanced endometrial endometrioid carcinoma compared to paired primary uterine tumors. Gynecol. Oncol. 2018; 151; 401-406.
Fujiyoshi K, Yamamoto G, Takahashi A et al. High concordance rate of KRAS/BRAF mutations and MSI-H between primary colorectal cancer and corresponding metastases. Oncol. Rep. 2017; 37; 785-792.
Jung J, Kang Y, Lee YJ et al. Comparison of the mismatch repair system between primary and metastatic colorectal cancers using immunohistochemistry. J. Pathol. Transl. Med. 2017; 51; 129-136.
Stelloo E, Jansen AML, Osse EM et al. Practical guidance for mismatch repair-deficiency testing in endometrial cancer. Ann. Oncol. 2017; 28; 96-102.
Cohen R, Hain E, Buhard O et al. Association of primary resistance to immune checkpoint inhibitors in metastatic colorectal cancer with misdiagnosis of microsatellite instability or mismatch repair deficiency status. JAMA Oncol. 2019; 5; 551-555.
Hampel H, Pearlman R, Beightol M et al. Assessment of tumor sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer. JAMA Oncol. 2018; 4; 806-813.
Conway JR, Kofman E, Mo SS, Elmarakeby H, Van Allen E. Genomics of response to immune checkpoint therapies for cancer: implications for precision medicine. Genome Med. 2018; 10; 93-111.