Background Loss of mismatch repair (MMR) occurs frequently in endometrial carcinoma (EC) and is an important prognostic marker. However, the frequency of MMR deficiency (D-MMR) in EC remains inconclusive. This systematic review and meta-analysis addressed this inconsistency and evaluated related clinicopathology.
Methods Electronic databases were searched for articles: PubMed, Science Direct, Web of Science, EMBASE, and the Wiley Online Library. Data were extracted from 25 EC studies of D-MMR to generate a clinical dataset of 7,459 patients. A random-effects model produced pooled estimates of D-MMR EC frequency with 95% confidence interval (CI) for meta-analysis.
Results The overall pooled proportion of D-MMR was 24.477% (95% CI, 21.022 to 28.106) in EC. The Lynch syndrome subgroup had 22.907% pooled D-MMR (95% CI, 14.852 to 32.116). D-MMR was highest in type I EC (25.810) (95% CI, 22.503 to 29.261) compared to type II (13.736) (95% CI, 8.392 to 20.144). Pooled D-MMR was highest at EC stage and grades I–II (79.430% and 65.718%, respectively) and lowest in stages III–IV and grade III (20.168% and 21.529%). The pooled odd ratios comparing D-MMR to proficient MMR favored low-stage EC disease (1.565; 0.894 to 2.740), lymphovascular invasion (1.765; 1.293 to 2.409), and myometrial invasion >50% (1.271; 0.871 to 1.853).
Conclusions Almost one-quarter of EC patients present with D-MMR tumors. The majority has less aggressive endometrioid histology. D-MMR presents at lower tumor stages compared to MMR-proficient cases in EC. However other metastatic parameters are comparatively higher in the D-MMR disease setting.
Citations
Citations to this article as recorded by
Guidelines of the Brazilian Society of Surgical Oncology for anatomopathological, immunohistochemical, and molecular testing in female tumors Reitan Ribeiro, Filomena Marino Carvalho, Glauco Baiocchi, Rodrigo Santa Cruz Guindalini, Juliano Rodrigues da Cunha, Carlos Henrique dos Anjos, Caroline de Nadai Costa, Ana Carolina Leite Vieira Costa Gifoni, Renato Cagnacci Neto, Allyne Queiroz Carneiro Journal of Surgical Oncology.2024;[Epub] CrossRef
Microsatellite instability as a reliable marker of coexisting endometrial cancer in atypical endometrial hyperplasia А. E. Protasova, G. A. Raskin, M. S. Sobivchak Tumors of female reproductive system.2024; 20(2): 105. CrossRef
Prevalence of Mismatch Repair Gene Defects by Means of Immuno-histochemistry Staining for MMR Proteins in Endometrial Cancer Kaustubh Girish Burde, Indu R. Nair, Pavithran Keechilattu, Anupama Rajanbabu The Journal of Obstetrics and Gynecology of India.2024;[Epub] CrossRef
Cancer-specific functional profiling in microsatellite-unstable (MSI) colon and endometrial cancers using combined differentially expressed genes and biclustering analysis Woong Na, Il Ju Lee, Insong Koh, Mihye Kwon, Young Soo Song, Sung Hak Lee Medicine.2023; 102(19): e33647. CrossRef
Clinicopathological characteristics of endometrial carcinomas according to DNA mismatch repair protein status Daniela de Freitas, Fernando Nalesso Aguiar, Cristina Anton, Danielle Cristina de Almeida, Carlos Eduardo Bacchi, Jesus Paula Carvalho, Filomena Marino Carvalho Heliyon.2023; 9(6): e17495. CrossRef
Mesonephric-like Adenocarcinoma of the Uterine Corpus: Genomic and Immunohistochemical Profiling with Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution Hyun-Hee Koh, Eunhyang Park, Hyun-Soo Kim Biomedicines.2023; 11(8): 2269. CrossRef
miR-486-3p Controls the Apoptosis of Endometrial Carcinoma Cells Donghua Wang, Xiaoli Liu, Lirong Cao, Shixiong Gong, Yi He, Xiangbin Jiang, Zhongxian Wang Journal of Biomaterials and Tissue Engineering.2022; 12(5): 1002. CrossRef
The Role of Immunohistochemistry Markers in Endometrial Cancer with Mismatch Repair Deficiency: A Systematic Review Amelia Favier, Justine Varinot, Catherine Uzan, Alex Duval, Isabelle Brocheriou, Geoffroy Canlorbe Cancers.2022; 14(15): 3783. CrossRef