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001-es BibID:BIBFORM116552
035-os BibID:(scopus)85163358484 (wos)001067763800001
Első szerző:Hájková, Nikola
Cím: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 / Hájková Nikola, Bártu Michaela Kendall, Cibula David, Drozenová Jana, Fabian Pavel, Fadare Oluwole, Frühauf Filip, Hausnerová Jitka, Hojny Jan, Krkavcová Eva, Laco Jan, Lax Sigurd F., Matej Radoslav, Méhes Gábor, Michálková Romana, Nemejcová Kristyna, Singh Naveena, Stolnicu Simona, Svajdler Marián, Zima Tomás, McCluggage Wilson Glenn, Struzinská Ivana, Dundr Pavel
Dátum:2023
ISSN:1931-5244
Megjegyzések: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, 6 cases were MSI-high and one was MSS. In all cases, mutation of an MMR gene was found; in 2 cases, the mutation was germline (Lynch syndrome). An additional 5 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 nonendometrioid 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.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Colorectal Neoplasms,Hereditary Nonpolyposis
DNA Mismatch Repair
Female
High-Throughput Nucleotide Sequencing
Humans
Microsatellite Instability
Mutation
Neoplasms, Glandular and Epithelial
Polymerase Chain Reaction
Turcot syndrome
DNA mismatch repair protein MSH2
mismatch repair protein
mismatch repair protein PMS2
MutL protein homolog 1
protein MSH6
adult
aged
Article
cancer grading
clear cell carcinoma
colloid carcinoma
controlled study
epithelium tumor
female
germline mutation
high throughput sequencing
histopathology
human
human cell
human tissue
interrater reliability
major clinical study
microsatellite instability
microsatellite marker
ovary tumor
polymerase chain reaction
protein expression
somatic mutation
tumor growth
World Health Organization
genetics
glandular and epithelial neoplasms
hereditary nonpolyposis colorectal cancer
Immunohistochemistry
Megjelenés:Translational Research. - 260 (2023), p. 61-68. -
További szerzők:Bártủ, Michaela Cibula, David Drozenová, Jana Fabian, Pavel Fadare, Oluwole Frühauf, Filip Hausnerová, Jitka Hojny, Jan Krkavcová, Eva Laco, Jan Lax, Sigurd F. Matej, Radoslav Méhes Gábor (1966-) (patológus) Michálková, Romana Nĕmejcová, Kristýna Singh, Naveena Stolnicu, Simona Svajdler, Marián Zima Tomás McCluggage, W. Glenn Struzinská, Ivana Dundr, Pavel
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