scholarly journals Low prevalence of mismatch repair deficiency in Chinese colorectal cancers: a multicenter study

2020 ◽  
Vol 8 (5) ◽  
pp. 399-403
Author(s):  
Wu Jiang ◽  
Qiao-Qi Sui ◽  
Wen-Liang Li ◽  
Chuan-Feng Ke ◽  
Yi-Hong Ling ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Clinicopathological Features ◽  
Mismatch Repair Deficiency ◽  
Medical Centers ◽  
Repair Deficiency ◽  
History Of ◽  
Baseline Characteristics ◽  
The Right ◽  
Low Prevalence ◽  
8Th Edition

Abstract Background Although universal testing for mismatch repair deficiency (dMMR) has been recommended to all colorectal cancer (CRC) patients, related evidence for the Chinese population is lacking. Here, we investigated the prevalence and clinicopathological features of dMMR patients in a large Chinese CRC cohort. Methods We included 7,373 CRC patients treated at four Chinese medical centers between August 2010 and September 2016. Patients’ baseline characteristics and pathological features were recorded. The clinicopathological features were compared between patients with MLH1/PMS2 deficiency (dMLH1/PMS2) and MSH2/MSH6 deficiency (dMSH2/MSH6). Results Among the investigated patients, 654 (8.9%) were identified with dMMR CRCs and, of them, 401 (61.3%) were males, with a median age of 55 years (range, 22–87 years); 355 (54.3%) had stage II CRC based on American Joint Committee on Cancer 8th edition. The prevalence of the dMLH1/PMS2 group and the dMSH2/MSH6 group were 51.5% (337/654) and 25.1% (164/654), respectively. Compared with dMSH2/MSH6 patients, those with dMLH1/PMS2 were older (57 vs 52 years, P < 0.001), more likely to be female (45.7% vs 31.5%, P = 0.004), prone to having tumors located in the right-hand side of the colon (59.0% vs 47.6%, P = 0.015), and less likely to have a family history of tumors (29.7% vs 43.3%, P = 0.003). Conclusions The prevalence of dMMR in Chinese CRC patients was low, especially in the dMLH1/PMS2 group. The clinicopathological features were different between dMMR subgroups.

scholarly journals Assessment of mismatch repair deficiency in ovarian cancer

2020 ◽  
pp. jmedgenet-2020-107270
Author(s):  
Emma J Crosbie ◽  
Neil A J Ryan ◽  
Rhona J McVey ◽  
Fiona Lalloo ◽  
Naomi Bowers ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Genomic Medicine ◽  
Promoter Hypermethylation ◽  
Mismatch Repair Deficiency ◽  
Pathogenic Variants ◽  
Repair Deficiency ◽  
History Of

BackgroundHereditary causes of ovarian cancer include Lynch syndrome, which is due to inherited pathogenic variants affecting one of the four mismatch repair genes involved in DNA repair. The aim of this study was to evaluate tumour mismatch repair deficiency and prevalence of Lynch syndrome in high-risk women referred to the Manchester Centre for Genomic Medicine with ovarian cancer over the past 20 years.MethodsWomen with ovarian cancer diagnosed before the age of 35 years and/or with a suggestive personal or family history of Lynch syndrome cancers underwent tumour testing with immunohistochemistry for mismatch repair deficiency and, where indicated, MLH1 promoter methylation testing followed by constitutional testing for Lynch syndrome.ResultsIn total, 261 ovarian cancers were tested and 27 (10.3%; 95% CI 6.9% to 14.7%) showed mismatch repair deficiency by immunohistochemistry. Three of 7 with MLH1 loss showed MLH1 promoter hypermethylation, and 18 of the remaining 24 underwent constitutional testing for Lynch syndrome. A further 15 women with mismatch repair proficient tumours underwent constitutional testing because of a strong family history of Lynch syndrome cancers. Pathogenic variants were identified in 9/33 (27%) women who underwent constitutional testing, aged 33–59 years (median 48 years), including one whose tumour was mismatch repair proficient. Most Lynch syndrome tumours were of endometrioid histological subtype.ConclusionsTumour mismatch repair deficiency identified by immunohistochemistry is a useful prescreen for constitutional testing in women with ovarian cancer with personal or family histories suggestive of Lynch syndrome.

scholarly journals Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers

2017 ◽  
Vol 6 (6) ◽  
pp. 1465-1472 ◽  
Author(s):  
Grainne M. O'Kane ◽  
Éanna Ryan ◽  
Terri P. McVeigh ◽  
Ben Creavin ◽  
John MP. Hyland ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Academic Medical Centers ◽  
Mismatch Repair Deficiency ◽  
Cancer Data ◽  
Medical Centers ◽  
Repair Deficiency ◽  
Academic Medical

scholarly journals Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome (CMMRD): a Case Report with Literature Review

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Muhammad Irfan Basheer ◽  
Iftikhar Ali Rana ◽  
Umer Nisar Sheikh ◽  
Muhammed Aasim Yusuf ◽  
Irfana Ishaq Sindhu ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Tumor Cells ◽  
Cervical Lymphadenopathy ◽  
Lymphoblastic Lymphoma ◽  
Pediatric Tumors ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Increased Risk ◽  
History Of ◽  
Constitutional Mismatch Repair Deficiency

Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease-carrying an increased risk of cancers (pediatric tumors of central nervous system, haemato-lymphoid malignancies along with gastrointestinal (GI) cancer(s), which are usually seen in the second and third decade) leading to syndromic presentation. Causal mutations are detected in DNA mismatch repair (MMR) genes, including MLH1, PMS2, MSH2, and MSH6 that are also known for their established role in Lynch syndrome. We describe a case of CMMRD with an earlier (first decade of life) presentation of mediastinal acute lymphoblastic lymphoma and colorectal malignancy. Case Presentation: A five-year-old boy presented with respiratory complaints, bilateral cervical lymphadenopathy, multiple café au lait macules (CALMs) on the lower back, history of parental consanguinity with the death of three sisters due to brain tumor within 6 months of diagnosis. Computerized tomographic (CT) scan chest revealed a huge mediastinal mass. The patient underwent a trucut-biopsy of the mass. The results were significant for a pre T-cell acute lymphoblastic lymphoma. Suspicion of CMMRD was raised based on a combination of factors described above. A panel of mismatch repair (MMR) proteins was applied on the biopsy tissue that revealed loss of nuclear expression of MLH1 and PMS2 immunostaining in tumor cells with positive external controls. While on maintenance therapy for lymphoma, about a year later, the patient developed sub-acute intestinal obstruction due to a stenosing polypoidal circumferential tumor in the mid-sigmoid colon found on flexible sigmoidoscopy that was followed by endoscopic biopsies and insertion of a fully-covered self-expanding metallic adult biliary stent with a diameter of 10 mm and length of 6 cm leading to immediate relief of obstruction. Biopsies revealed adenocarcinoma with neuroendocrine differentiation. Metastatic tumor deposits were seen in the omentum, anterior abdominal wall, and the left peritoneal wall. Practical Implications: Earlier (first decade) presentation of gastrointestinal malignancy warrants that an earlier screening through radiological scans for any possible tumors and MMR protein expression analysis (loss in tumor plus normal non-tumor cells) are essential in patients having CALMs and family history of pediatric tumors.

Low Frequency of Mismatch Repair Deficiency in a Large Cohort of Non-liver fluke associated Cholangiocarcinomas

2018 ◽  
Vol 56 (01) ◽  
pp. E2-E89
Author(s):  
B Goeppert ◽  
S Roessler ◽  
M Renner ◽  
S Singer ◽  
A Mehrabi ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Liver Fluke ◽  
Low Frequency ◽  
Large Cohort ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency
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