Microsatellite instability and promoter hypermethylation in colorectal cancer in India

Kanth, Vishnubhotla Venkata Ravi; Bhalsing, Sandeep; Sasikala, M.; Rao, G Sudhakara; Rebala, Pradeep; Avanthi, Urmila Steffie; Reddy, D. Nageshwar

doi:10.1007/s13277-013-1570-9

Cited by 12 publications

(3 citation statements)

References 36 publications

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“…MMR protein loss is more commonly seen in right sided tumours compared to left sided and rectal tumours as was evident in this series as well. This is similar to studies from other parts of the world, [24][25][26]29 however, Ravikanth et al 30 reported MSI-H status to be present most commonly in rectal cancer (66%).…”

Section: Discussionsupporting

confidence: 88%

Pattern of mismatch repair protein loss and its clinicopathological correlation in colorectal cancer in North India

et al. 2018

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Background: To determine the mismatch repair (MMR) protein loss in colorectal cancer (CRC) in north Indian patients and its clinicopathological correlation. Methods: A prospective study on patients with colorectal cancer from a tertiary level hospital conducted between May 2014 and June 2015. MMR protein loss was determined using immunohistochemistry for MLH1, MSH2, PMS2 and MSH6. Results: 52 patients (38 male and 14 females) of CRC, with median age of 52.5 years who underwent resection form the study group. 18 (35%) patients were < 50 years of age. Family history of malignancy was present in 3 (6 %) patients. A total of 15 (29%) patients had loss of MMR protein of which 7 (46%) were < 50 years. Most common MMR loss was combined loss of MSH2 + MSH6 [6 (11.5%)] followed by isolated loss of PMS2 [5 (9.6%)]. MMR protein loss was more frequent in patients with right side colon cancer [12 (42%)] compared to left [3 (13%)] (p = 0.033). MMR protein loss was seen in 11 (34%) out of 32 patients fulfilling the revised Bethesda criteria compared to 4 (20%) out of 20 patients who did not fulfil the criteria (p = 0.352). Conclusion: This study demonstrates high frequency of MMR protein loss in colorectal cancer in north Indian patients which was more common in right colon cancer. Many patients having MMR protein loss do not satisfy the revised Bethesda criteria and would have been missed if selective testing was done. Further research and larger studies are required to validate these findings and develop India specific clinical criteria.

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Section: Discussionsupporting

confidence: 88%

Pattern of mismatch repair protein loss and its clinicopathological correlation in colorectal cancer in North India

et al. 2018

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“…Pioneer studies in Southern India, conducted by a centre in the provincial state of Tamil Nadu, showed that 67% of cases had deficient MMR [13]. This was supported by higher prevalence rates in other studies from the state of Andhra Pradesh [14,15]. In our population in the state of Kerala, deficient MMR was found in 27% of Stage II CRC [16].…”

Section: Introductionsupporting

confidence: 80%

Pilot Nanostring PanCancer pathway analysis of colon adenocarcinoma in a tertiary healthcare centre in Kerala, India

Ariyannur

Joy

Menon

et al. 2021

ecancer

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The prevalence of microsatellite instability and deoxyribonucleic acid mismatch repair deficiency in colorectal adenocarcinoma (CRC) cases is higher in India compared to western populations. No major study on the molecular pathogenesis is currently available in the Indian population. We conducted a pilot study to explore the differences in molecular pathogenesis of microsatellite stable (MSS) and microsatellite unstable CRC from a tertiary care centre in Kerala, South India. Using Nanostring PanCancer panel assay in Stage II colorectal adenocarcinoma, tumour tissues (n = 11) were compared against normal colon tissues (n = 4). Differentially expressed (DE) genes were identified and superimposed onto colon adenocarcinoma cohort of The Cancer Genome Atlas (TCGA) data (TCGA Colon Adenocarcinoma (TCGA COAD)), from the Genome Expression Profiling Interactive Analysis and Tumor Immune Estimation Resource (TIMER) to compare the gene associations. Significant DE genes were 59 out of 730 (false discovery rate adj. p-value < 0.05), 18 of which had a fold-change |FC(log 2 )| ≥ 2. On superimposition to TCGA COAD, 33 genes were significant in both TCGA and current study. ETV4 was expressed significantly higher in MSS with no immune cell infiltration. Other significant DE genes with high FC(log 2 ), unique to the study were INHBA, COL1A1, COL11A1, COMP, SFRP4 and SPP1, which were clustered in STRING network analysis and correlated with tumourinfiltrating immune cells in TIMER, suggesting a specific interaction pathway. The preliminary study suggests a distinct pathogenesis of MSS CRC involving ETV4 in the Indian population and warrants further clinically extensive and high-dimensional expression studies.

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“…Irrespective of the pathways involved in the pathogenesis of early or late-onset CRC, MSI was found to be around 40% in another study conducted in Andhra Pradesh 17 . More recent studies from the same region showed 48% of cases were MSI 18 . There have been not many studies conducted in India to address the reason behind the high prevalence of MMR deficiency occurring in India compared to other populations.…”

Section: Introductionmentioning

confidence: 84%

Expression analysis of colon adenocarcinoma in the South Indian population reveals novel signals of pathogenesis

Ariyannur

Joy

Menon

et al. 2020

Preprint

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High throughput somatic expression analyses of colon adenocarcinoma conducted so far were mostly in the western population, and no major studies are currently available in the Indian population. We have performed Nanostring PanCancer pathway panel assay in Stage II colon cancer (n = 11) and compared against normal colon tissues (n = 4). Differentially expressed (DE) genes were identified and superimposed on the Cancer Genome Atlas (TCGA) data, from the Genome Expression Profiling Interactive Analysis (GEPIA) and Tumor Immune Estimation Resource (TIMER).83 out of 730 genes were significantly different (p-value < 0.01), 19 of which had a fold-change |FC(log2)| ≥ 2. A comparison of these signals on TCGA COAD data revealed four common (MET, MCM2, ETV4, and MMP7) and15 uncommon genes. On group comparison, ETV4 expression was significantly higher in microsatellite stable (MSS). Significant DE genes, unique in the study, were INHBA, COL1A1, COL11A1, COMP, SFRP4, and SPP1, which were clustered in STRING.db network analysis and correlated with tumor-infiltrating immune cells in TIMER.MMR functions of colon cancer pathogenesis in India may be differentiated by validating the somatic expression of most common genes identified in the study.

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Microsatellite instability and promoter hypermethylation in colorectal cancer in India

Cited by 12 publications

References 36 publications

Pattern of mismatch repair protein loss and its clinicopathological correlation in colorectal cancer in North India

Pattern of mismatch repair protein loss and its clinicopathological correlation in colorectal cancer in North India

Pilot Nanostring PanCancer pathway analysis of colon adenocarcinoma in a tertiary healthcare centre in Kerala, India

Expression analysis of colon adenocarcinoma in the South Indian population reveals novel signals of pathogenesis

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