Polyp burden in Lynch syndrome patients ascertained via multigene panel testing.

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 596-596
Author(s):  
Maegan Roberts ◽  
Megan L. Marshall ◽  
Erica M Webb ◽  
Anna K. McGill ◽  
Lisa R. Susswein ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Adenomatous Polyps ◽  
Published Data ◽  
Colon Polyps ◽  
Testing Methods ◽  
Cancer Syndrome ◽  
Panel Testing ◽  
History Of ◽  
Pathology Reports

596 Background: Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is a hereditary colorectal cancer syndrome thought to present with few or no polyps. It has been suggested that the majority of LS patients with colon polyps will develop 1-9 cumulative adenomatous polyps in their lifetime, while approximately 10% will develop ≥10. Our aim was to describe polyp burden in a cohort of LS patients who were ascertained via multi-gene cancer panel testing. Methods: We retrospectively reviewed the personal history for all individuals with a pathogenic or likely pathogenic variant (collectively, PV) in MLH1, MSH2 (including 3’ EPCAM deletions), MSH6, or PMS2. Individuals with more than one PV in a LS-associated or other gene were excluded. All polyp data was obtained from provided test requisition forms and/or pathology reports. Results: A total of 131 individuals reported to have colon polyps were molecularly confirmed as having LS. Of these individuals, 55% (72/131) reported a history of colorectal cancer. Overall, polyp burden was reported as follows: 83% (109/131) with 1-10 polyps, 13% (17/131) with 10-19 polyps, and 4% (5/131) with 20-50 polyps. Of the 5 individuals reporting 20-50 polyps, the average was 31.2 polyps (range 21-50). Adenomatous pathology was reported for one or more polyps in 69% (91/131) of individuals. When limited to those with adenomatous polyps, 85% (77/91) reported 1-10 polyps, 11% (10/91) reported 10-19 polyps, and 4% (4/91) reported 20-50 polyps. When breaking down by presence and absence of colorectal cancer, 18% (13/72) and 15% (9/59), respectively, reported a polyp burden ≥10. Overall, 17% (22/131) of all LS patients reported ≥10 polyps. Conclusions: Similar to previously published data, the majority of LS patients with colon polyps report a polyp burden of < 10. However, our data suggest that the proportion of LS patients with a polyp burden of ≥10 may be higher than previously reported (17% vs. 10%) stressing the importance of including the LS-associated genes for these patients. While LS has historically been referred to as a “non-polyposis” syndrome, a subset of patients actually present with an attenuated polyposis-like phenotype.

Family history of colorectal adenomatous polyps as a risk factor for colorectal cancer

2000 ◽  
Vol 36 (16) ◽  
pp. 2111-2114 ◽  
Author(s):  
H Nakama ◽  
B Zhang ◽  
K Fukazawa ◽  
A.S.M Abdul Fattah
Keyword(s):  
Colorectal Cancer ◽  
Risk Factor ◽  
Family History ◽  
Adenomatous Polyps ◽  
History Of

Hereditary Nonpolyposis Colorectal Cancer Syndrome in a Patient With Urothelial Carcinoma of the Upper Urothelial Tract

2003 ◽  
Vol 127 (2) ◽  
pp. e60-e63
Author(s):  
Arndt Hartmann ◽  
John C. Cheville ◽  
Wolfgang Dietmaier ◽  
Ferdinand Hofstädter ◽  
Lawrence J. Burgart ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Urinary Tract ◽  
Urothelial Carcinoma ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Upper Urinary Tract ◽  
Cancer Syndrome ◽  
Tract Cancer ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
History Of Cancer

Abstract Urothelial carcinoma of the upper urinary tract is relatively uncommon but may develop as a manifestation of the hereditary nonpolyposis colorectal cancer syndrome (HNPCC), which is characterized by mutations in a number of DNA mismatch repair genes and detectable as microsatellite instability or loss of the respective protein by immunostaining. No well-established screening test is available for urothelial carcinomas of the upper urinary tract, and little is known of the clinical impact of screening for HNPCC in patients with upper urinary tract cancer. We describe herein a patient with a urothelial carcinoma of the ureter and a strongly positive history of cancer, who was subsequently found to have HNPCC. Our findings reinforce the importance of obtaining a comprehensive history of cancer in patients with urothelial carcinoma of the renal pelvis and ureter. Subsequent identification of individuals with HNPCC enables the patient and at-risk relatives to benefit from targeted surveillance and management programs.

scholarly journals Recent advances in understanding Lynch syndrome

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2889 ◽  
Author(s):  
Sherief Shawki ◽  
Matthew F. Kalady
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Correct Diagnosis ◽  
Diagnostic Testing ◽  
Gene Mutations ◽  
The United States ◽  
Cancer Syndrome ◽  
Dna Mismatch ◽  
Recent Developments ◽  
Risk Patients

Colorectal cancer affects about 4.4% of the population and is a leading cause of cancer-related death in the United States. Approximately 10% to 20% of cases occur within a familial pattern, and Lynch syndrome is the most common hereditary colorectal cancer syndrome. Lynch syndrome is a hereditary predisposition to forming colorectal and extracolonic cancers, caused by a germline mutation in one of the DNA mismatch repair genes. Identifying at-risk patients and making a correct diagnosis are the keys to successful screening and interventions which will decrease formation of and death from cancers. Knowledge of the genetics and the natural history of Lynch syndrome has continued to be uncovered in recent years, leading to a better grasp on how these patients and their families should be managed. Recent developments include the approach to diagnostic testing, more precise definitions of the syndrome and risk stratification based on gene mutations, surgical decision-making, and chemoprevention.

scholarly journals Advanced Colon Cancer Before the Age of 20 Years: A Case for Extension of the Current Colonscopy Surveillance Guidelines in Hereditary Nonpolyposis Colorectal Cancer Syndrome

2004 ◽  
Vol 18 (5) ◽  
pp. 319-320 ◽  
Author(s):  
Victor K Wong ◽  
Eric M Yoshida ◽  
Anthony G Ryan ◽  
Stephen GF Ho ◽  
Baljinder Salh
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Pelvic Mass ◽  
Cancer Syndrome ◽  
Advanced Colon Cancer ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
Current Guidelines ◽  
Colorectal Adenocarcinomas

BACKGROUND:Hereditary nonpolyposis colorectal cancer (HNPCC) currently accounts for between 2% to 6% of all colorectal adenocarcinomas. Controversies exist regarding the current guidelines for colonoscopic screening for colon cancer.CASE REPORT:A case of colon cancer in a young Japanese man with a family history of colon cancer that did not meet the criteria for HNPCC is reported. A malignant pelvic mass discovered shortly before his 20th birthday prompted a colonoscopy. The findings at colonscopy determined that the patient and his family fulfilled the criteria of HNPCC.CONCLUSION:Before finding a pelvic mass metastatic from adenocarcinoma of the ascending colon, this patient was clearly outside of the current guidelines for HNPCC screening. It is suggested that in similar patients, even if they do not fulfill all the criteria for HNPCC, it would be appropriate to consider screening well before the recommended lower age.

Body Mass Index Increases Risk of Colorectal Adenomas in Men With Lynch Syndrome: The GEOLynch Cohort Study

2010 ◽  
Vol 28 (28) ◽  
pp. 4346-4353 ◽  
Author(s):  
Akke Botma ◽  
Fokko M. Nagengast ◽  
Marieke G.M. Braem ◽  
Jan C.M. Hendriks ◽  
Jan H. Kleibeuker ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Body Mass Index ◽  
Cohort Study ◽  
Lynch Syndrome ◽  
Body Mass ◽  
Normal Weight ◽  
Colorectal Adenomas ◽  
Adenomatous Polyps ◽  
Prevalent Cohort ◽  
Incident Cohort

Purpose High body mass index (BMI) is an established risk factor for sporadic colorectal cancer. Still, the influence of BMI on hereditary colorectal cancer (eg, Lynch syndrome [LS]), is unknown. The objective of this study was to assess whether BMI is associated with colorectal adenoma occurrence in persons with LS. Patients and Methods A prospective cohort study of 486 patients with LS was conducted. Cox regression models with robust sandwich estimates controlling for age, sex, extent of colon surgery, smoking, and alcohol intake were used to evaluate associations between BMI, height, weight, weight change, and risk of colorectal adenomas. Analyses were performed separately for those without (incident cohort; n = 243) and those with (prevalent cohort; n = 243) a history of colorectal cancer neoplasms at baseline. Results A statistically significant association between current overweight (≥ 25 kg/m2) and developing colorectal adenomas was seen among men in the incident cohort (overweight v normal weight hazard ratio [HR], 8.72; 95% CI, 2.06 to 36.96). This association was not observed among women (overweight v normal weight HR, 0.75; 95% CI, 0.19 to 3.07), nor was it observed in the prevalent cohort. In the incident cohort, height was statistically significantly associated with a decreased risk of adenomatous polyps among men (per 5 cm HR, 0.43; 95% CI, 0.23 to 0.83), but the association between weight and adenomatous polyps among men was of marginal significance (per 5 kg HR, 1.17; 95% CI, 1.00 to 1.37). No statistically significant associations were observed among women in either the incident cohort or the prevalent cohort. Conclusion Excess body weight increased the risk of incident colorectal adenomas in people with LS. This increased risk was seen only in men.

Risk evaluation about genetic screening among ovary cancer with regard to Lynch syndrome.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13000-e13000
Author(s):  
Min Kyu Kim
Keyword(s):  
Lynch Syndrome ◽  
Cancer Patients ◽  
Risk Evaluation ◽  
Large Population ◽  
Clinical Information ◽  
Cost Effective ◽  
Hereditary Cancer Syndrome ◽  
Cancer Syndrome ◽  
Ovary Cancer ◽  
History Of

e13000 Background: Hereditary cancer syndrome about ovary cancer is mostly BRCA related. But mismatch repair genes related Lynch syndrome is also associated with it.There is not much study about risk evaluation about this among Korean population. We investigate this. Methods: A retrospective review of ovary cancer patients who was counseled about Lynch syndrome in Department of Obstetrics and gynecology, Samsung Changwon Hospital by single surgeon was done. Clinical information was extracted from the medical record including age, family and personal history of cancer, immunohistochemistry (IHC) of MLH1/MSH2, microsatellite instability test (MSI). Results: Total test was 26.mean age was 54(16~75) and fifty percent was serous type (13/26).There were 2 patients with Lynch syndrome related cancer family history (stomach and ovary) among their 1st degree relatives. Only one patient has abnormal MLH1 IHC.There were three unstable MSI patients (BAT26, D2S123, D55346, and NR21). Conclusions: We found three abnormal MSI patients among this population. Cost effective algorithm using multiple genetic testing to find Lynch syndrome associated ovary cancer patients should be developed through large population study.

Chromosomal Aberration in Colorectal Cancer Family

2015 ◽  
Vol 15 (1) ◽  
pp. 8-11
Author(s):  
Edvins Miklasevics ◽  
Mikko Kupila ◽  
Dagnija Kalniete ◽  
Inese Eglite ◽  
Dace Berzina ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Chromosomal Aberration ◽  
Chromosomal Aberrations ◽  
Snp Array ◽  
Hereditary Cancer Syndrome ◽  
Coding Region ◽  
Cancer Syndrome ◽  
Increased Risk ◽  
Risk Of Malignancy

Summary Introduction. Lynch syndrome, previously more commonly known as hereditary nonpolyposis colorectal cancer, is a hereditary cancer syndrome with an autosomal dominant inheritance pattern. Usually it is caused by mutations the MMR genes. In 20 - 25% of cases patients are not found to have mutations in any of these genes. Chromosomal aberrations as a cause of the Lynch syndrome were examined in this study. Aim of the study. To identify chromosomal aberrations which may lead to colorectal cancer. Material and methods. Twelve patients, corresponding to either Amsterdam I/II criteria or Bethesda guidelines, which have been tested negative for mutations in Lynch genes have been karyotyped were karyotyped with SNP array chips, in order to determine if they had potentially heritable chromosomal aberrations which could be responsible for increased risk of malignancy. Results. One patient with a 14.7Mbp duplication framed by small deletions was chosen to be the most likely patient to suffer from an inherited carcinogenic chromosomal aberration. The preceding deletion was found to contain the coding region of BRE, encoding a component of the BRCA1-A complex; we believe that this deletion is the most carcinogenic component of the aberration and likely responsible for Lynch syndrome in this case. The larger duplication furthermore contained the coding regions for 83 genes, some of which have been shown to promote malignant disease when overexpressed. Conclusion. Because of the clinically grossly tolerable nature of the aberration it is possible that it was vertically transmitted and contributed to the onset of colorectal cancer in the patient and his mother and maternal aunt.

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