The Prevalence and Associated Factors of Microsatellite Instability in Ovarian Epithelial Cancers Detected by Molecular Genetic Studies in a Sample of Iranian Women

Shahsiah, Reza; Salarvand, Samaneh; Miri, Rosa; Ghalehtaki, Reza; Rakhshani, Nasser

doi:10.5812/ijcm.11599

Cited by 3 publications

(8 citation statements)

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“…The macroscopic features of the OC subtypes in our cohort were typical of malignant OCs. [28,35] Most of our cases were unilateral with stage I disease, without capsular breach or LVI, which is concordant with a study by Shahsiah et al [19] Early-stage (FIGO stage I/II) ovarian tumours may involve one or both ovaries or fallopian tubes with extension below the pelvic brim or primary peritoneal cancer. [5] These early-stage OCs have a 5-year survival rate of 92%, which emphasises the importance of implementing screening and effective treatment options in early-stage disease to prevent development to advanced stages where patient survival decreases significantly.…”

Section: Discussionsupporting

confidence: 91%

“…[10] Our cohort comprised 19 cases owing to exclusion of serous OCs. Although serous subtypes account for ~75% of all EOCs, they are not associated with MMR-d. [3,8,19] The overall patient ages and ovarian tumour subtypes in our study correspond to those in global studies. [6,19,[28][29][30][31][32] Infrequent capsular breach (21.1%) and LVI (15.8%) were observed in our cohort, whereas a study on EOC in Japanese women showed ovarian capsular breach and LVI in 55.8% and 17.5% of cases, respectively.…”

Section: Discussionsupporting

confidence: 79%

“…Although serous subtypes account for ~75% of all EOCs, they are not associated with MMR-d. [3,8,19] The overall patient ages and ovarian tumour subtypes in our study correspond to those in global studies. [6,19,[28][29][30][31][32] Infrequent capsular breach (21.1%) and LVI (15.8%) were observed in our cohort, whereas a study on EOC in Japanese women showed ovarian capsular breach and LVI in 55.8% and 17.5% of cases, respectively. [33] Studies by Matsuo and colleagues [33,34] suggest that LVI and ovarian capsular breach in earlystage EOCs may be associated with recurrence and reduced survival.…”

Section: Discussionsupporting

confidence: 79%

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An assessment of mismatch repair deficiency in ovarian tumours at a public hospital in Johannesburg, South Africa

Klerk

Wadee²

2022

S Afr J Obstet Gynae

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Background. Epithelial ovarian carcinomas (EOCs) are lethal female genital tract malignancies with high-grade serous, low-grade serous, endometrioid, clear cell, mucinous and malignant Brenner subtypes. The lifetime risk for developing ovarian carcinoma (OC) is 15% in females who have mismatch repair deficiency (MMR-d). MMR-d is associated with Lynch syndrome, a cancer predisposition condition. Patients who have MMR-d may benefit from immunotherapy. To the best of the authors’ knowledge, MMR-d testing of OCs in South Africa (SA) has not been undertaken to date. Objectives. To assess the clinicopathological characteristics and mismatch repair (MMR) status of non-serous EOCs at a single institution in SA.Methods. Following ethical clearance and application of exclusion criteria, 19 cases of non-serous EOC from the Department of Anatomical Pathology at Charlotte Maxeke Johannesburg Academic Hospital were retrieved and assessed. Four immunohistochemical markers (MLH1, MSH2, MSH6 and PMS2) were used to evaluate MMR status. Results. Most tumours were early-stage, unilateral, mucinous EOCs, without capsular breach or lymphovascular invasion (LVI). A single case of grade 1, stage I, unilateral, endometrioid EOC showed MMR-d for MLH1 and PMS2 MMR proteins. This patient had been diagnosed with endometrioid endometrial carcinoma 2 years prior to the diagnosis of OC.Conclusion. Our study documented a lower proportion of MMR-d OCs compared with international studies. However, our results are concordant with global studies regarding tumour subtype, laterality, grade, stage, LVI and capsular breach. Larger studies are required to estimate the true incidence of MMR-d OCs in SA and to direct effective treatment options globally.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 79%

Section: Discussionsupporting

confidence: 79%

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An assessment of mismatch repair deficiency in ovarian tumours at a public hospital in Johannesburg, South Africa

Klerk

Wadee²

2022

S Afr J Obstet Gynae

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“…The related primers were ordered from Macrogene Company (Geum Chun-Gu, Seoul, Korea). These primers were tagged by Hex or Fam fluorescent dyes at 5* sequences (8). The real-time PCR was performed for the target genes in 20 μL reaction volume including 10 μL of 2X SYBR Green master mix without Rox (Ampliqon, Stenhuggervej, Denmark), 50 ng of the extracted DNA, and 1 μL of both reverse and forward primers which were prepared at 10 pM/μL concentration.…”

Section: Msi Analysis By Dna Sequencingmentioning

confidence: 99%

Microsatellite Instability and Colorectal Cancer, Immunohistochemical and Molecular Evaluation by Using DNA Sequencing: A Single Center Experience

et al. 2021

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Scan to discover onlineBackground & Objective: Microsatellite instability is common in familial colorectal cancers. It can be tested by the molecular and immunohistochemical methods. There are very few studies which address comparing the clinicopathological characteristics of microsatellite stable (MSS) and microsatellite unstable (MSI) colorectal cancers from Iran. In this study, we aimed to evaluate the clinicopathological and immunohistochemical findings of MSS and MSI colorectal cancers in our Center as the largest Center of gastrointestinal surgery and oncology in the South of Iran. We also compared the immunohistochemical method vs. molecular study using DNA sequencing.Methods: For 5 years (2015-2019), 34 patients who underwent operation in the affiliated Hospitals of Shiraz University of Medical Sciences were clinically suspected to microsatellite instability (MSI). The molecular diagnostic tests with DNA sequencing were performed. Clinicopathological and immunohistochemical findings of MSI colorectal cancers were compared with those who were stable.Results: In the South of Iran, MSI colorectal cancers were more common in males. These tumors were more common in the right side with more tendencies to produce mucin with lymphocytic infiltration. Conclusion:Immunohistochemistry would be a specific method for diagnosis of MSI colorectal cancers but may be associated with high rate of false negative results and of low sensitivity. Therefore, we recommend performing molecular studies by DNA sequencing in those colon cancers with clinical suspicion for MSI and negative immunohistochemical findings.

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“…The first report of MSI contributing to human cancer was published in 1993, describing 28% of MSI in colon tumors examined (61). Since then, the role of MSI has been discovered in many different types of cancer (9,11,32,56,65). However, instability in mitochondrial DNA (mtDNA) is still insufficiently characterized and is not well studied.…”

Section: Siti Muslihah Abd Radzakmentioning

confidence: 99%

Accumulation of mitochondrial dna microsatellite instability in malaysian patients with primary central nervous system tumors

Radzak

Khair²,

Ahmad³

et al. 2020

Turkish Neurosurgery

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AIM:To determine the mitochondrial microsatellite instability (mtMSI) status in a series of Malaysian patients with brain tumors. Furthermore, we analyzed whether the mtMSI status is associated with the clinicopathological features of the patients. MATERIAL and METHODS:Forty fresh frozen tumor tissues along with blood samples of brain tumor patients were analyzed for mtMSI by PCR amplification of genomic DNAs, and the amplicons were directly sequenced in both directions using Sanger sequencing. RESULTS:Microsatellite analysis revealed that 20% (8 out of 40) of the tumors were mtMSI positive with a total of 8 mtMSI changes. All mtMSI markers were detected in D310 and D16184 of the D-loop region. Additionally, no significant association was observed between mtMSI status and clinicopathological features. CONCLUSION:The variations, specifically the mtMSI, suggest that the mitochondrial DNA (mtDNA) can be targeted for genomic alteration in brain tumors. Therefore, the specific role of mtDNA alteration in brain tumor development and prognosis requires further investigation.

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The Prevalence and Associated Factors of Microsatellite Instability in Ovarian Epithelial Cancers Detected by Molecular Genetic Studies in a Sample of Iranian Women

Abstract: Background: Microsatellite instability, the main genetic element in HNPCC syndrome, is associated with a number of cancers, including ovarian epithelial carcinomas. These cancers have distinct characteristics compared to non-MSI related ones.

Cited by 3 publications

References 15 publications

An assessment of mismatch repair deficiency in ovarian tumours at a public hospital in Johannesburg, South Africa

An assessment of mismatch repair deficiency in ovarian tumours at a public hospital in Johannesburg, South Africa

Microsatellite Instability and Colorectal Cancer, Immunohistochemical and Molecular Evaluation by Using DNA Sequencing: A Single Center Experience

Accumulation of mitochondrial dna microsatellite instability in malaysian patients with primary central nervous system tumors

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