title: A case of squamous cell carcinoma of the skin due to the molecularly confirmed Lynch Syndrome.
abstract: 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.
authors.affiliation: Division of Oncology, Washington University in St. Louis, 660 S. Euclid Avenue CB 8056, 63110, St. Louis, MO USA.
authors.forename: Steven
authors.initials: S
authors.lastname: Sorscher
keywords: Colon cancer; Lynch; Squamous