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Hereditary colon cancer is one of the few types of carcinoma. About five to seven percent of non-polypal colorectal cancer (HNPCC), which is badociated with an increased risk of illness for parents. The abbreviation means the English name "Hereditary Non Polyposis Colorectal Cancer", also called Lynch Syndrome. The appearance of cancers under 50 years is typical.
"The disease is caused by a germ-line mutation of DNA repair enzymes.The current knowledge indicates that one of the four genes MLH1, MSH2, MSH6 and PMS2 has a mutation.This leads to a failure of one or more repair enzymes at the level of the protein, so that the result of increased mutations is carcinomatous degeneration ", explains Professor Dr. med. As genetic change is present in all cells of the body, the disease can also break out in other organs outside the intestinal tract – for example in the uterus, ovaries, stomach, efferent urinary tract.
Carcinoma at a Young Age: Hereditary Disease Awareness
"For early diagnosis of HNPCC / Lynch syndrome, we need the experience and support of clinicians and residents who know that HNPCC syndrome can also occur in other organs than the small intestine and the small intestine.For example, the diagnosis of rare dermatologic tumors such as sebaceous adenomas should also be considered HNPCC syndrome because this benign tumor can also be badociated with HNPCC In this way, HNPCC patients can be detected early and carcinogenesis in other organs can be prevented through intensified preventive care, "said the Cologne-based pathologist. "In principle, more emphasis should be placed on the fact that carcinomas diagnosed at a young age may indicate a hereditary predisposition and perhaps Also be members of the family. "
Criteria for Amsterdam and Bethesda
can be found on the site of the joint project" Familial Colon Cancer "(http://www.hnpcc.de/arztbroschuere. htm). For example, according to the "Amsterdam Criteria", at least three family members, for example, must be diagnosed with carcinoma badociated with HNPCC in at least two generations before the age of 50.
All patients with a hereditary HNPCC predisposition Responding to the very severe criteria of Amsterdam, the Bethesda criteria defined an expanded catalog of clinical criteria. If any of these criteria is met, the diagnosis of HNPCC should be followed by specific immunohistochemical, molecular pathological and human tests.
HNPCC Diagnostic Methods: Immunohistochemistry, Molecular Pathology and Human Genetics
It is important that the four HNPCCs suspected relevant repair proteins, namely MLH1, MSH2, MSH6 and PMS2, are immunohistochemically screened in tumor tissue. "One advantage is that we have the results in a few days and that we can have a high degree of certainty about the presence of hereditary colon cancer," says the Cologne expert. "Microsatellite badysis further secures the immunohistochemical result by investigating low-grade or high-level microsatellite instability in tumor tissue, and thus represents further confirmation of the results in addition to immunohistochemistry."
Beyond the previously known genes, the pathologist believes that other genes also play a role in the development of HNPCC diseases. "The Institute of Pathology of the University of Cologne is a reference center for hereditary colorectal cancer in the joint project" Family Colon Cancer ", which has been funded by German Cancer Aid for many years.
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idw 2018/07
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