Skip to main content
Erschienen in: Virchows Archiv 5/2022

05.02.2022 | Original Article

Comparison of the Idylla™ MSI assay with the Promega™ MSI Analysis System and immunohistochemistry on formalin-fixed paraffin-embedded tissue of endometrial carcinoma: results from an international, multicenter study

verfasst von: Sonia Gatius, Ana Velasco, Mar Varela, Miriam Cuatrecasas, Pedro Jares, Lisa Setaffy, Benjamin Bonhomme, Almudena Santon, Kristina Lindemann, Sabrina Croce, Ben Davidson, Sigurd Lax, Jose Palacios, Xavier Matias-Guiu

Erschienen in: Virchows Archiv | Ausgabe 5/2022

Einloggen, um Zugang zu erhalten

Abstract

Determination of microsatellite instability (MSI) and mismatch repair deficiency (MMRD), respectively, in endometrial carcinomas (ECs) is important for diagnostic and prognostic purposes, identification of Lynch syndrome carriers, and selection of patients for immunotherapy. The Idylla™ MSI assay is fully automated, does not require non-tumoral tissue, and can be performed in about 150 min. Two hundred forty-two formalin-fixed paraffin-embedded (FFPE) EC samples from 7 international centers were tested by the Idylla™ MSI assay and compared to the Promega™ MSI Analysis System and immunohistochemistry (IHC) for MMR proteins. The cases were selected with an enrichment of MSI EC to around 40%. Concordance was 87.5% between the Idylla™ MSI assay and IHC and 88.58% between IHC and Promega™ MSI assay. Concordance between Idylla™ and Promega™ MSI assays was 89.91%. Discordant results occurred more frequently in cases with MSH6 or PMS2 deficiency. Invalid cases occurred with the three techniques (IHC, 7.00%; Promega™ MSI assay, 5.37%; and Idylla™ MSI assay, 2.47%). The concordance rate between Idylla™ MSI assay and the other 2 methods increased to 88.83% for IHC and to 91.22% for the Promega™ MSI assay when the cutoff of instability in the scoring system was moved from 0.5 to 0.3. The Idylla™ MSI assay is a rapid and highly concordant test for MSI in EC. Modification of the Idylla™ scoring system could increase the sensitivity and specificity of the MSI assay for EC analysis.
Literatur
1.
Zurück zum Zitat Matias-Guiu X, Prat J (2013) Molecular pathology of endometrial carcinoma. Histopathology 62:111–123CrossRef Matias-Guiu X, Prat J (2013) Molecular pathology of endometrial carcinoma. Histopathology 62:111–123CrossRef
2.
Zurück zum Zitat Hampel H, Pearlman R, de la Chapelle A, Pritchard CC, Zhao W, Jones D et al (2021) Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients. Gynecol Oncol 160:161–168CrossRef Hampel H, Pearlman R, de la Chapelle A, Pritchard CC, Zhao W, Jones D et al (2021) Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients. Gynecol Oncol 160:161–168CrossRef
3.
Zurück zum Zitat Broaddus RR, Lynch HT, Chen LM, Daniels MS, Conrad P, Munsell MF et al (2006) Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer 106:87–94CrossRef Broaddus RR, Lynch HT, Chen LM, Daniels MS, Conrad P, Munsell MF et al (2006) Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma. Cancer 106:87–94CrossRef
4.
Zurück zum Zitat Honore LH, Hanson J, Andrew SE (2006) Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer 16:1386–1392CrossRef Honore LH, Hanson J, Andrew SE (2006) Microsatellite instability in endometrioid endometrial carcinoma: correlation with clinically relevant pathologic variables. Int J Gynecol Cancer 16:1386–1392CrossRef
5.
Zurück zum Zitat Shia J, Black D, Hummer AJ, Boyd J, Soslow RA (2008) Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol 39:116–125CrossRef Shia J, Black D, Hummer AJ, Boyd J, Soslow RA (2008) Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol 39:116–125CrossRef
6.
Zurück zum Zitat Luis A. Diaz, Jennifer N. Uram, Hao Wang, Bjarne Bartlett, Holly Kemberling, Aleksandra Eyring, Nilofer Saba Azad, Tianna Dauses, Dan Laheru, James J. Lee, Todd S. Crocenzi, Richard M. Goldberg, George A. Fisher, Tim F. Greten, Christian Frederick Meyer, Amanda Nickles Fader, Deborah Kay Armstrong, Minori Koshiji, Bert Vogelstein, Dung T. Le (2016). Programmed death-1 blockade in mismatch repair deficient cancer independent of tumour histology. J Clin Oncol 34:15_suppl, 3003–3003. Luis A. Diaz, Jennifer N. Uram, Hao Wang, Bjarne Bartlett, Holly Kemberling, Aleksandra Eyring, Nilofer Saba Azad, Tianna Dauses, Dan Laheru, James J. Lee, Todd S. Crocenzi, Richard M. Goldberg, George A. Fisher, Tim F. Greten, Christian Frederick Meyer, Amanda Nickles Fader, Deborah Kay Armstrong, Minori Koshiji, Bert Vogelstein, Dung T. Le (2016). Programmed death-1 blockade in mismatch repair deficient cancer independent of tumour histology. J Clin Oncol 34:15_suppl, 3003–3003.
7.
Zurück zum Zitat Ott PA, Bang Y-J, Berton-Rigaud D, Elez E, Pishvaian MJ, Rugo HS et al (2016) Pembrolizumab in advanced endometrial cancer: preliminary results from the phase Ib KEYNOTE-028 study. J Clin Oncol 34(15_ suppl):5581CrossRef Ott PA, Bang Y-J, Berton-Rigaud D, Elez E, Pishvaian MJ, Rugo HS et al (2016) Pembrolizumab in advanced endometrial cancer: preliminary results from the phase Ib KEYNOTE-028 study. J Clin Oncol 34(15_ suppl):5581CrossRef
8.
Zurück zum Zitat The Cancer Genome Atlas Research Network (2013) Integrated genomic characterization of endometrial carcinoma. Nature 497:67–73CrossRef The Cancer Genome Atlas Research Network (2013) Integrated genomic characterization of endometrial carcinoma. Nature 497:67–73CrossRef
9.
Zurück zum Zitat Piulats JM, Guerra E, Gil-Martín M, Roman-Canal B, Gatius S, Sanz-Pamplona R et al (2017) Molecular approaches for classifying endometrial carcinoma. Gynecol Oncol 145:200–207CrossRef Piulats JM, Guerra E, Gil-Martín M, Roman-Canal B, Gatius S, Sanz-Pamplona R et al (2017) Molecular approaches for classifying endometrial carcinoma. Gynecol Oncol 145:200–207CrossRef
10.
Zurück zum Zitat Talhouk A, McConechy MK, Leung S, Li-Chang HH, Kwon JS, Melnyk N et al (2015) A clinically applicable molecular-based classification for endometrial cancers. Br J Cancer 113:299–310CrossRef Talhouk A, McConechy MK, Leung S, Li-Chang HH, Kwon JS, Melnyk N et al (2015) A clinically applicable molecular-based classification for endometrial cancers. Br J Cancer 113:299–310CrossRef
11.
Zurück zum Zitat Vermij L, Smit V, Nout R, Bosse T (2020) Incorporation of molecular characteristics into endometrial cancer management. Histopathology 76:52–63CrossRef Vermij L, Smit V, Nout R, Bosse T (2020) Incorporation of molecular characteristics into endometrial cancer management. Histopathology 76:52–63CrossRef
12.
Zurück zum Zitat León-Castillo A, Britton H, McConechy MK, McAlpine JN, Nout R, Kommoss S et al (2020) Interpretation of somatic POLE mutations in endometrial carcinoma. J Pathol 250:323–335CrossRef León-Castillo A, Britton H, McConechy MK, McAlpine JN, Nout R, Kommoss S et al (2020) Interpretation of somatic POLE mutations in endometrial carcinoma. J Pathol 250:323–335CrossRef
13.
Zurück zum Zitat Modica I, Soslow RA, Black D, Tornos C, Kauff N, Shia J (2007) Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol 31:744–751CrossRef Modica I, Soslow RA, Black D, Tornos C, Kauff N, Shia J (2007) Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol 31:744–751CrossRef
14.
Zurück zum Zitat Concin N, Matias-Guiu X, Vergote I, Cibula D, Mirza MR, Marnitz S et al (2021) ESGO/ESTRO/ESP guidelines for the management of patients with endometrial carcinoma. Int J Gynecol Cancer 154:327–353 Concin N, Matias-Guiu X, Vergote I, Cibula D, Mirza MR, Marnitz S et al (2021) ESGO/ESTRO/ESP guidelines for the management of patients with endometrial carcinoma. Int J Gynecol Cancer 154:327–353
15.
Zurück zum Zitat Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268CrossRef Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268CrossRef
16.
Zurück zum Zitat Luchini C, Bibeau F, Ligtenberg MJL, Singh N, Nottegar A, Bosse T et al (2019) ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol 30:1232–1243CrossRef Luchini C, Bibeau F, Ligtenberg MJL, Singh N, Nottegar A, Bosse T et al (2019) ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol 30:1232–1243CrossRef
17.
Zurück zum Zitat Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL et al (2018) Assessment of tumour sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer. JAMA Oncol 4:806–813CrossRef Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL et al (2018) Assessment of tumour sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer. JAMA Oncol 4:806–813CrossRef
18.
Zurück zum Zitat Hissong E, Crowe EP, Yantiss RK, Chen YT (2018) Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing. Mod Pathol 4:806–813 Hissong E, Crowe EP, Yantiss RK, Chen YT (2018) Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing. Mod Pathol 4:806–813
20.
Zurück zum Zitat Shia J (2008) 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 Diagnostics 10:293–300CrossRef Shia J (2008) 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 Diagnostics 10:293–300CrossRef
21.
Zurück zum Zitat Zhao H, Thienpont B, Yesilyurt BT, Moisse M, Reumers J, Coenegrachts L et al (2014) Mismatch repair deficiency endows tumours with a unique mutation signature and sensitivity to DNA double-strand breaks. Elife 3:02725 Zhao H, Thienpont B, Yesilyurt BT, Moisse M, Reumers J, Coenegrachts L et al (2014) Mismatch repair deficiency endows tumours with a unique mutation signature and sensitivity to DNA double-strand breaks. Elife 3:02725
22.
Zurück zum Zitat Li X, Xu J, Li L, Mu X, Wang Y, Li X (2019) Evaluation of a fully automated Idylla test system for microsatellite instability in colorectal cancer. Clin Colorectal Cancer. 18:316–323CrossRef Li X, Xu J, Li L, Mu X, Wang Y, Li X (2019) Evaluation of a fully automated Idylla test system for microsatellite instability in colorectal cancer. Clin Colorectal Cancer. 18:316–323CrossRef
23.
Zurück zum Zitat Lee M, Chun SM, Sung CO, Kim SY, Kim TW, Jang SJ et al (2019) Clinical utility of a fully automated microsatellite instability test with minimal hands-on time. J Pathol Transl Med 53:386–392CrossRef Lee M, Chun SM, Sung CO, Kim SY, Kim TW, Jang SJ et al (2019) Clinical utility of a fully automated microsatellite instability test with minimal hands-on time. J Pathol Transl Med 53:386–392CrossRef
24.
Zurück zum Zitat Zwaenepoel K, Holmgaard Duelund J, De Winne K, Maes V, Weyn C, Lambin S et al (2020) Clinical performance of the Idylla MSI test for a rapid assessment of the DNA microsatellite status in human colorectal cancer. J Mol Diagnostics 22:386–395CrossRef Zwaenepoel K, Holmgaard Duelund J, De Winne K, Maes V, Weyn C, Lambin S et al (2020) Clinical performance of the Idylla MSI test for a rapid assessment of the DNA microsatellite status in human colorectal cancer. J Mol Diagnostics 22:386–395CrossRef
25.
Zurück zum Zitat Samaison L, Grall M, Staroz F, Uguen A (2019) Microsatellite instability diagnosis using the fully automated Idylla platform: feasibility study of an in-house rapid molecular testing ancillary to immunohistochemistry in pathology laboratories. J Clin Pathol 72:830–835CrossRef Samaison L, Grall M, Staroz F, Uguen A (2019) Microsatellite instability diagnosis using the fully automated Idylla platform: feasibility study of an in-house rapid molecular testing ancillary to immunohistochemistry in pathology laboratories. J Clin Pathol 72:830–835CrossRef
26.
Zurück zum Zitat De Craene B, Van de Velde J, Bellon E, Gazin M, Rondelez E, Vandenbroeck L et al (2018) Detection of microsatellite instability (MSI) with a novel set of 7 Idylla biomarkers on colorectal cancer samples in a multi-center study. Ann Oncol 29(Supplement):8 De Craene B, Van de Velde J, Bellon E, Gazin M, Rondelez E, Vandenbroeck L et al (2018) Detection of microsatellite instability (MSI) with a novel set of 7 Idylla biomarkers on colorectal cancer samples in a multi-center study. Ann Oncol 29(Supplement):8
28.
Zurück zum Zitat Siemanowski J, Schömig-Markiefka B, Buhl T, Haak A, Siebolts U, Dietmaier W, Arens N, Pauly N, Ataseven B, Büttner R, Merkelbach-Bruse S (2021) Managing difficulties of microsatellite instability testing in endometrial cancer-limitations and advantages of four different PCR-based approaches. Cancers (Basel) 13:1268CrossRef Siemanowski J, Schömig-Markiefka B, Buhl T, Haak A, Siebolts U, Dietmaier W, Arens N, Pauly N, Ataseven B, Büttner R, Merkelbach-Bruse S (2021) Managing difficulties of microsatellite instability testing in endometrial cancer-limitations and advantages of four different PCR-based approaches. Cancers (Basel) 13:1268CrossRef
29.
Zurück zum Zitat Gilson P, Levy J, Rouyer M, Demange J, Husson M, Bonnet C, Salleron J, Leroux A, Merlin JL, Harlé A (2020) Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers. Sci Rep 10:16386CrossRef Gilson P, Levy J, Rouyer M, Demange J, Husson M, Bonnet C, Salleron J, Leroux A, Merlin JL, Harlé A (2020) Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers. Sci Rep 10:16386CrossRef
30.
Zurück zum Zitat Pécriaux A, Favre L, Calderaro J, Charpy C, Derman J, Pujals A (2021) Detection of microsatellite instability in a panel of solid tumours with the Idylla MSI Test using extracted DNA. J Clin Pathol 74:36–42CrossRef Pécriaux A, Favre L, Calderaro J, Charpy C, Derman J, Pujals A (2021) Detection of microsatellite instability in a panel of solid tumours with the Idylla MSI Test using extracted DNA. J Clin Pathol 74:36–42CrossRef
31.
Zurück zum Zitat Dedeurwaerdere F, Claes KB, Van Dorpe J, Rottiers I, Van der Meulen J, Breyne J, Swaerts K, Martens G (2021) Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. Sci Rep 11:12880CrossRef Dedeurwaerdere F, Claes KB, Van Dorpe J, Rottiers I, Van der Meulen J, Breyne J, Swaerts K, Martens G (2021) Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. Sci Rep 11:12880CrossRef
32.
Zurück zum Zitat Hause RJ, Pritchard CC, Shendure J, Salipante SJ (2016) Classification and characterization of microsatellite instability across 18 cancer types. Nat Med 22:1342–1350CrossRef Hause RJ, Pritchard CC, Shendure J, Salipante SJ (2016) Classification and characterization of microsatellite instability across 18 cancer types. Nat Med 22:1342–1350CrossRef
33.
Zurück zum Zitat Wang Y, Shi C, Eisenberg R, Vnencak-Jones CL (2017) Differences in microsatellite instability profiles between endometrioid and colorectal cancers: a potential cause for false-negative results? J Mol Diagnostics 19:57–64CrossRef Wang Y, Shi C, Eisenberg R, Vnencak-Jones CL (2017) Differences in microsatellite instability profiles between endometrioid and colorectal cancers: a potential cause for false-negative results? J Mol Diagnostics 19:57–64CrossRef
34.
Zurück zum Zitat Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P (2019) Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation. Mod Pathol 32:650–658CrossRef Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P (2019) Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation. Mod Pathol 32:650–658CrossRef
35.
Zurück zum Zitat Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J et al (2002) Endometrial and colorectal tumours from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol 160:1953–1958CrossRef Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J et al (2002) Endometrial and colorectal tumours from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability. Am J Pathol 160:1953–1958CrossRef
Metadaten
Titel
Comparison of the Idylla™ MSI assay with the Promega™ MSI Analysis System and immunohistochemistry on formalin-fixed paraffin-embedded tissue of endometrial carcinoma: results from an international, multicenter study
verfasst von
Sonia Gatius
Ana Velasco
Mar Varela
Miriam Cuatrecasas
Pedro Jares
Lisa Setaffy
Benjamin Bonhomme
Almudena Santon
Kristina Lindemann
Sabrina Croce
Ben Davidson
Sigurd Lax
Jose Palacios
Xavier Matias-Guiu
Publikationsdatum
05.02.2022
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv / Ausgabe 5/2022
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-022-03291-x

Weitere Artikel der Ausgabe 5/2022

Virchows Archiv 5/2022 Zur Ausgabe

Neu im Fachgebiet Pathologie