scholarly journals Generational Expression of Muir-Torre Syndrome in a Canadian Family

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Kaitlin Alexandra Vanderbeck ◽  
R. Gary Sibbald ◽  
Nirosha Murugan
Keyword(s):  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Colorectal Adenocarcinoma ◽  
Autosomal Dominant ◽  
Expert Knowledge ◽  
Clinical Course ◽  
Diagnostic Challenge ◽  
Hereditary Nonpolyposis ◽  
History Of ◽  
Nodular Lesions ◽  
Extensive Family

Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmedHMSH2mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life. She has a confirmed extensive family history of MTS with both male and female family members harbouring eitherHMLH1orHSMH2mutations. Affected relatives have presented at different ages throughout their lives with cutaneous neoplasms and visceral malignancies, including malignancies rarely associated with MTS. MTS presents a diagnostic challenge for clinicians. The case demonstrates that the management of MTS, a potentially underreported syndrome, requires a multiprofessional approach incorporating vigilance, screening, and expert knowledge for successful diagnosis and potentially improved prognosis for patients and their families. The case also demonstrates the varied heritability of MTS and prompts the question of how MTS is expressed in succeeding generations.

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 Muir-Torre Syndrome: The Importance of a Detailed Family History

2019 ◽  
Vol 10 (2) ◽  
pp. 180-185
Author(s):  
Christopher K.H. Burris ◽  
Maria E. Rodriguez ◽  
Meisha L. Raven ◽  
Devasis N. Reddy ◽  
Yaohui G. Xu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Skin Neoplasms ◽  
Skin Lesions ◽  
Hereditary Nonpolyposis ◽  
Detailed Family History ◽  
Dominant Disease ◽  
Typical Skin

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

scholarly journals A Dynamic Family History model Of Hereditary Nonpolyposis Colorectal Cancer and Critical Illness Insurance

2007 ◽  
Vol 2 (2) ◽  
pp. 289-325 ◽  
Author(s):  
L. Lu ◽  
A. S. Macdonald ◽  
H. R. Waters ◽  
F. Yu
Keyword(s):  
Colorectal Cancer ◽  
Critical Illness ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Familial Aggregation ◽  
Family History Information ◽  
Dna Mismatch ◽  
Genetic Test Results ◽  
Hereditary Nonpolyposis ◽  
History Of

ABSTRACTHereditary nonpolyposis colorectal cancer (HNPCC) is characterised by the familial aggregation of cancer of the colon and rectum (CRC). It may be caused by any of five mutations in DNA mismatch repair (MMR) genes or by non-genetic factors, such as life style. However, it accounts for only about 2% of CRC, which is a very common cancer. Previous actuarial models, of diseases with only genetic causes, assumed that a family history of the disease shows mutations to be present, but this is not true of HNPCC. This is a significant limitation, since the best information available to an underwriter (especially if the use of genetic test results is banned) is likely to be knowledge of a family history of CRC. We present a Markov model of CRC and HNPCC, which includes the presence of a family history of CRC as a state, and estimate its intensities allowing for MMR genotype. Using this we find the MMR mutation probabilities for an insurance applicant with a family history of CRC. Our model greatly simplifies the intensive computational burden of finding such probabilities by integrating over complex models of hidden family structure. We estimate the costs of critical illness insurance given the applicant's genotype or the presence of a family history. We then consider what the cost of adverse selection might be, if insurers are unable to use genetic tests or family history information. We also consider the effect of using alternative definitions of a family history in underwriting.

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.

scholarly journals Differential diagnosis of small bowel occlusions

2009 ◽  
Vol 3 (2) ◽  
pp. 81-87
Author(s):  
Paolo Ghiringhelli
Keyword(s):  
Colorectal Cancer ◽  
Differential Diagnosis ◽  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Early Age ◽  
Increased Risk ◽  
Hereditary Nonpolyposis

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI). Patients with Lynch syndrome have a markedly increased risk of colorectal cancer. We report a case of a 28-year-old male with Lynch syndrome; the case allows to describe clinical manifestations and diagnostic criteria of this syndrome, and to underline the importance of genetics in the diagnosis of this disease.

scholarly journals A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations

2007 ◽  
Vol 23 (3) ◽  
pp. 179-187 ◽  
Author(s):  
M. Pedroni ◽  
B. Roncari ◽  
S. Maffei ◽  
L. Losi ◽  
A. Scarselli ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Germline Mutations ◽  
Cell Replication ◽  
Cost Effectiveness Ratio ◽  
Hereditary Nonpolyposis ◽  
Dominant Disease ◽  
Almost All ◽  
The Cost

Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI). MSI is present in 85–90% of colorectal cancers that occur in Lynch Syndrome. To standardize the molecular diagnosis of MSI, a panel of 5 microsatellite markers was proposed (known as the “Bethesda panel”). Aim of our study is to evaluate if MSI testing with two mononucleotide markers, such as BAT25 and BAT26, was sufficient to identify patients withhMLH1/hMSH2germline mutations. We tested 105 tumours for MSI using both the Bethesda markers and the two mononucleotide markers BAT25 and BAT26. Moreover, immunohistochemical evaluation of MLH1 and MSH2 proteins was executed on the tumours with at least one unstable microsatellite, whereas germlinehMLH1/hMSH2mutations were searched for all cases showing two or more unstable microsatellites.The Bethesda panel detected more MSI(+) tumors than the mononucleotide panel (49.5% and 28.6%, respectively). However, the mononucleotide panel was more efficient to detect MSI(+) tumours with lack of expression of Mismatch Repair proteins (93% vs 54%). Germline mutations were detected in almost all patients whose tumours showed MSI and no expression of MLH1/MSH2 proteins. No germline mutations were found in patients with MSI(+) tumour defined only through dinucleotide markers. In conclusion, the proposed mononucleotide markers panel seems to have a higher predictive value to identifyhMLH1andhMSH2mutation-positive patients with Lynch syndrome. Moreover, this panel showed increased specificity, thus improving the cost/effectiveness ratio of the biomolecular analyses.

Familial Mutations in PMS2 Can Cause Autosomal Dominant Hereditary Nonpolyposis Colorectal Cancer

2005 ◽  
Vol 128 (5) ◽  
pp. 1431-1436 ◽  
Author(s):  
Daniel L. Worthley ◽  
Michael D. Walsh ◽  
Melissa Barker ◽  
Andrew Ruszkiewicz ◽  
Graeme Bennett ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Autosomal Dominant ◽  
Hereditary Nonpolyposis
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