Abstract
Lynch Syndrome (LS), also known as hereditary nonpolyposis colorectal
cancer (HNPCC), is an autosomal dominant inherited disorder with high
penetrance. Individuals are at an increased risk for early onset of
colorectal cancer, usually in the proximal colon and other extracolonic
cancers, which include endometrial, ovarian,stomach, pancreatic, and
urinary tract cancers. LS is caused by a germline mutation in the DNA
mismatch repair genes, which results in microsatellite instability.
There are two known variants of Lynch Syndrome, Muir-Torre Syndrome
(MTS) and Turcot Syndrome (TS). We report a 67 year old female patient
who presented with abdominal pain. Initial thoughts were diverticulitis
with abscess formation. However, this was proven to be carcinoma of the
colon with perforation and abscess formation. A later colonoscopy would
reveal another mass below the hepatic flexure in the ascending colon.
She would then develop endometrial cancer and skin cancer (squamous cell
and sebaceous carcinoma) . Genetic testing would reveal a MSH2 mutation,
confirming the diagnosis of Lynch Syndrome. Her diagnosis of sebaceous
carcinoma would classify her LS as the variant MTS. Our case
demonstrates how a rare condition can present itself as a common
symptom, and the importance of continuous monitoring of patients with
LS, as atypical cancers for LS can be LS variants.