Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma

Note: abstract/free full text (pdf)
*this case describes a patient with many different cancers in the family including breast cancer, MSH6 deficiency

"LS (Lynch Syndrome) has been traditionally described in terms of earlyonset colorectal and endometrial cancers. Although this remains a confirmed association, we are learning more about the variability of LS and the prevalence of other cancers associated with this condition. The majority of cases of LS are reported to be caused by MLH1 and MSH2 gene mutations, but as evaluation for this condition becomes more widespread and routine in cases beyond the classically reported presentation, it is likely that we will come to find that the prevalence of other mismatch gene mutations is much higher than previously suspected."