Clinicopathologic Factors Associated with Mismatch Repair Status Among Filipino Patients with Young-Onset Colorectal Cancer

Sacdalan, Dennis Lee; Garcia, Reynaldo L.; Diwa, Michele H.; Sacdalan, Danielle Benedict

doi:10.2147/cmar.s286618

Cited by 7 publications

(3 citation statements)

References 27 publications

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“…Fifteen studies reported data on expression of MMR proteins, indicating MMR status. 21,23,24,26,27,33,37,41,43,[45][46][47][48][49][50] A combined meta-analysis of studies that had MSI and/or MMR results was performed, and this is shown in Figure 4A. Pooled analysis revealed a prevalence of 10% (95% CI 7%-14%) of MSI-H/dMMR in presumed sporadic EOCRCs.…”

Section: Systematic Review and Meta-analysismentioning

confidence: 99%

Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review

Hamilton¹,

Bannon²,

Dunne³

et al. 2023

Gastro Hep Advances

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Section: Systematic Review and Meta-analysismentioning

confidence: 99%

Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review

Hamilton¹,

Bannon²,

Dunne³

et al. 2023

Gastro Hep Advances

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“…Similarly, Liang et al [ 12 ] did not find any association of dMMR status with LVI, as noted in our study. Sacdalan et al [ 13 ] also reported aggressive histological features (poor differentiation, mucinous histology) of dMMR CRC in Filipino patients. Concordant with our findings, mucinous and poor differentiation were found in dMMR CRC [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Mismatch Repair Deficient (dMMR) Colorectal Carcinoma in a Pakistani Cohort: Association With Clinical and Pathological Parameters

Hashmi,

Bukhari,

Rizwan

et al. 2023

Cureus

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Introduction Microsatellite instability (MSI) is an important pathway in colorectal carcinoma (CRC) pathogenesis. MSI occurs due to mutations in mismatch repair (MMR) genes that include MutL protein homolog 1 (MLH1), postmeiotic segregation increased 2 (PMS2), MutS homolog 2 (MSH2), and MutS homolog 6 (MSH6). CRC with MSI is termed MMR deficient (dMMR) CRC. Conversely, CRC with intact MMR genes is called microsatellite stable (MSS) or MMR proficient (pMMR). In this study, we compared the clinicopathological features of dMMR CRC with pMMR CRC. Methods It was a retrospective study conducted in the Department of Histopathology, Liaquat National Hospital, Karachi, Pakistan, from March 2020 to February 2022, over a duration of two years. Biopsy-proven cases of CRC with upfront surgical resection were included in the study. Microscopic examination was performed to evaluate tumor type, grade, and extent of invasion, presence of necrosis, perineural invasion (PNI), lymphovascular invasion (LVI), peritumoral lymphocytes (PTL), intratumoral lymphocytes (ITL), and nodal metastasis. Immunohistochemical staining was performed using antibodies, namely, MLH1, PMS2, MSH2, and MSH6. Any loss of nuclear expression in tumor cells was termed dMMR or microsatellite instable, whereas the intact nuclear expression in tumor cells was labeled as MSS or pMMR. Results A total of 135 cases of CRC were included in the study. The mean age at diagnosis was 46.76 ± 17.74 years, with female predominance (60.7%). The loss of MLH1, PMS2, MSH2, and MSH6 expression was noted in 39.3%, 34.1%, 17.8%, and 16.3% cases, respectively. Overall, 59.3% of CRCs were pMMR, while 40.7% were dMMR. A significant association of MMR status was noted with respect to age, PNI, LVI, tumor grade, tumor (T) and nodal (N) stage, mucinous differentiation, and ITL. dMMR CRC was significantly above 50 years than pMMR CRC. The frequency of PNI and LVI was lower in dMMR CRC than in pMMR CRC. Conversely, the higher grade (grade 3) and higher T-stage (T4) were associated with dMMR CRC. Alternatively, the frequency of higher N stage (N2b) was more commonly seen in pMMR CRC. Moreover, mucinous differentiation and ITL were significantly associated with dMMR CRC. Conclusion A significant proportion of CRC patients in our population demonstrated dMMR status. dMMR CRC had a higher histological grade with a higher frequency of mucinous differentiation and higher T-stage. Conversely, the presence of LVI, PNI, and higher N stages were associated with pMMR CRC.

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“…2 The same trend was seen in the Philippines, where patients diagnosed with colorectal cancer less than 40 years of age comprised 17 to 24%. 3 Patients diagnosed with breast cancer between 20 and 39 years old have also been shown to increase in the American population from 24.6 per 100,000 in 1975 to 31.7 per 100,000 in 2015. 4 In the younger population, cancers are more likely to be diagnosed at a later stage.…”

Section: Introductionmentioning

confidence: 99%

Current Epidemiology of Periampullary Malignancies in a Tertiary Referral Center in the Philippines: A Five-Year Review

Abon

Berberabe

2021

Acta Med Philipp

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Background. Periampullary malignancies traditionally occur during the later decades of life, but casual observations at the Philippine General Hospital (PGH) have shown more patients presenting at younger ages. Updates on the epidemiology and clinical features of these uncommon cancers may improve detection and result in better outcomes.Objective. The study aimed to describe the current epidemiology of adult patients diagnosed with periampullary malignancies seen in the past five years at the PGH Department of Surgery.Methods. Demographic and clinical data were obtained on patients with either pancreatic head, ampullary, distal bile duct, or duodenal cancer diagnosed from 2015 to 2019. Age and sex distributions, rates of symptom presentation, utilization of diagnostic modalities, and prevalence of comorbid conditions were analyzed per individual primary site and for the entire study population.Results. Two hundred seventy-seven patients were included in the study, comprised mostly of pancreatic head cancers (56.32%) followed by ampullary (19.86%), duodenal (9.75%), and distal CBD cancers (7.58%). The mean age of presentation was 59.30 years. 33.94% of cases occurred in the 6 th decade of life, while 24.91% of patients were aged 50 years and below. There was a nearly equal distribution by sex (50.90% female, 49.10% male). Majority of patients presented with jaundice (89.65%) and abdominal pain (71.64%). CT scan was used to diagnose 71.48% of patients. We observed a higher prevalence of diabetes mellitus (21.32%), biliary stone disease (19.12%), and smoking history (36.88%) in the study group compared to the general Philippine population. Conclusion.The epidemiology of periampullary malignancies at UP-PGH showed a younger age at presentation and an equal sex ratio compared to published data. Distributions of the primary sites, symptom frequency, and rate of associated comorbidities were consistent with previous findings from the literature.

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Clinicopathologic Factors Associated with Mismatch Repair Status Among Filipino Patients with Young-Onset Colorectal Cancer

Cited by 7 publications

References 27 publications

Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review

Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review

Mismatch Repair Deficient (dMMR) Colorectal Carcinoma in a Pakistani Cohort: Association With Clinical and Pathological Parameters

Current Epidemiology of Periampullary Malignancies in a Tertiary Referral Center in the Philippines: A Five-Year Review

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