Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome
نویسندگان
چکیده
We present the case of a 20 year old man who presented to the emergency department of Craigavon Hospital with a one day history of abdominal pain and dyspnoea. He had been involved in a motorcycle accident three days previously and sustained a soft tissue injury to his left leg. Examination revealed lower abdominal tenderness and left calf swelling. Blood pressure was 140/53mmHg and oxygen saturations were 97% on room air. ECG showed sinus tachycardia (137 beats per minute) and 2mm upsloping ST segment elevation in leads V1-V4 (figure 1).
منابع مشابه
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.
IMPORTANCE Sebaceous neoplasms (SNs) define the Muir-Torre syndrome variant of Lynch syndrome (LS), which is associated with increased risk for colon and other cancers necessitating earlier and more frequent screening to reduce morbidity and mortality.Immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in SNs can be used to screen for LS, but data on subsequent germline geneti...
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Background Lynch syndrome (LS) is responsible for around 2-3% of all colorectal cancers [1]. Germline mutations within one of four mismatch repair (MMR) genes, MLH1, MSH2, MSH6, or PMS2, cause an increased risk in colorectal, endometrial, urinary tract, and other cancers. Tumor screening, by microsatellite instability (MSI) and immunohistochemistry (IHC) analysis, can be utilized prior to mutat...
متن کاملHereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies
Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...
متن کاملسه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی
Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
متن کاملEstimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors
Background Microsatellite instability (MSI) is a hallmark of DNA mismatch repair (MMR) deficiency and is an established screening tool for identifying Lynch syndrome in colorectal cancer populations [1]. However, MSI testing is neither perfectly sensitive nor specific to detect Lynch Syndrome, and germline MMR mutations have been reported in patients with microsatellite stable (MSS) tumors [2]....
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عنوان ژورنال:
دوره 81 شماره
صفحات -
تاریخ انتشار 2012