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An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

BioMed Central
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DOI: 10.1186/1897-4287-8-s1-p17
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An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation POSTER PRESENTATION Open Access An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation Renee L Perrier*, Paulein Van Galen, Janice L Pasieka, Tony Magliocco, A Micheil Innes From 13th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer Honolulu, Hawaii, USA. 16-17 October 2009 Background Inherited cancer syndromes associated with acoustic neu- roma (i.e. neurofibromatosis 2-NF2), pheochromocytoma (i.e. Von Hippel Lindau, NFl, multiple endocrine neopla- sia syndromes, and hereditary paraganglioma syndrome), and colon cancer are well known. Lynch syndrome is the most common hereditary colon cancer syndrome and is caused by DNA mismatch repair dysfunction secondary to inherited mutations in one of MLHl, MSH2, MSH6, and less commonly PMS2. An increased risk for a variety of cancers is seen in patients with Lynch syndrome with the greatest risks being for colon and endometrial cancer. We report a Dutch patient with a history of bilateral acoustic neuromas diagnosed at 47, and pheochromocy- toma and endometrial adenocarcinoma diagnosed at age 54. She had no family history or other signs/symptoms of NF2. Family history was significant for her brother having metachronous colon cancers at 42 and 51, and a maternal uncle having colon cancer in his 40s. The family does not fulfill either Amsterdam I or II criteria. Methods Clinical investigations for hereditary cancer predisposi- tion were undertaken in our patient given her history of multiple primary tumors. Immunohistochemistry (IHC) for MLH1, MSH2, and MSH6 proteins, and genetic test- ing for Lynch syndrome were completed. In light of the history of bilateral acoustic neuromas, genetic testing for NF2 was also undertaken. Results Genetic testing for NF2 did not detect a mutation or deletion in the NF2 gene. IHC on tissue from the patient’s endometrial adenocarcinoma and pheochro- mocytoma showed absent expression of MSH

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