Microsatellite Instability in Non-Endometrioid Ovarian Epithelial Tumors: A study of 400 cases Comparing Immunohistochemistry, PCR, and NGS Based Testing with Mutation Status of MMR Genes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F23%3A10464753" target="_blank" >RIV/00669806:_____/23:10464753 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/23:00131347 RIV/00209805:_____/23:00079315 RIV/00216208:11110/23:10464753 RIV/00216208:11120/23:43925630 and 7 more

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0nb4JFAkTy" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=0nb4JFAkTy</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.trsl.2023.05.004" target="_blank" >10.1016/j.trsl.2023.05.004</a>

Result language

angličtina

Original language name

Microsatellite Instability in Non-Endometrioid Ovarian Epithelial Tumors: A study of 400 cases Comparing Immunohistochemistry, PCR, and NGS Based Testing with Mutation Status of MMR Genes

Original language description

Testing of microsatellite instability is not only used as a triage for possible Lynch syndrome, but also to predict immunotherapy treatment response. The aim of this study was to assess the frequency of mismatch repair deficiency (MMR-D) / microsatellite instability (MSI) in 400 cases of non-endometrioid ovarian tumors (high-grade serous, low-grade serous, mucinous and clear cell), to compare different methodological approaches of testing, and to assess the optimal approach for next generation sequencing (NGS) MSI testing. For all tumors, we evaluated immunohistochemical (IHC) expression of MMR proteins and assessed microsatellite markers by PCR-based method. Except for high-grade serous carcinoma, we correlated the findings of IHC and PCR with NGS-based MSI testing. We compared the results with somatic and germline mutation in MMR genes. Among the whole cohort, seven MMR-D cases, all clear cell carcinomas (CCC), were found. On PCR analysis, six cases were MSI-high and one was MSS. In all cases, mutation of an MMR gene was found; in two cases, the mutation was germline (Lynch syndrome). An additional five cases with a mutation in MMR gene(s) with MSS status and without MMR-D were identified. We further utilized sequence capture NGS for MSI testing. Employing 53 microsatellite loci provided high sensitivity and specificity. Our study shows that MSI occurs in 7% of CCC while it is rare or absent in other non-endometrioid ovarian neoplasms. Lynch syndrome was present in 2% of patients with CCC. However, some cases with MSH6 mutation can evade all testing methods, including IHC, PCR, and NGS-MSI.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Translational Research

ISSN

1931-5244

e-ISSN

1878-1810

Volume of the periodical

260

Issue of the periodical within the volume

October

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

61-68

UT code for WoS article

001067763800001

EID of the result in the Scopus database

2-s2.0-85163358484