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open access
Case report
Patients with Lynch Syndrome are at high risk for developing a variety of cancers
including cancers of the colon or rectum, small bowel, stomach, uterus, renal pelvis,
ureter, biliary tract, ovaries, brain and pancreas (N Engl J Med 348: 919-32, 2003;
Gut 57:1097-101, 2008; NCCN, Inc Guideline. Ft. Washington, PA. Online Version 2.2014).
Lack of MLH-1 and MSH-2 expression commonly result from germline mutations in this
inherited cancer syndrome. Here, we report the case of a patient with a molecularly
confirmed germline mutation in MLH-1 along with a colon cancer showing lack of expression
of MLH-1 as well as a squamous cell cancer of the skin from the abdominal wall also
demonstrating lack of expression of MLH-1. This case appears to represent the second
case report of a squamous cell skin cancer apparently due to the Lynch Syndrome and
further supports a proposed relationship between Lynch Syndrome and these tumors.
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