Abstract

Aim and objective: To highlight a rare case of Lynch Syndrome and the challenges associated with its diagnosis and management. Materials and methods: A 68-year-old male who had a family history of colonic neoplasms came with complaints of left loin pain and altered bowel habits. Clinical examination showed a large palpable mass of size 8 cm × 5 cm in the left lumbar region. On evaluation, CECT Abdomen and pelvis showed a large circumferential lumen occluding growth in descending colon; with a synchronous mass lesion in left pelvic ureter causing upstream hydroureteronephrosis and a polypoidal lesion in urinary bladder. Patient underwent staged Laparoscopic left hemi colectomy with left nephrourterectomy and transurethral resection of bladder tumor. A diagnosis of hereditary non polyposis colorectal cancer (HNPCC) was made according to Revised Bethesda criteria. Immunohistochemistry for microsatellite instability (MSI) in the resected specimen showed unstable MSI. Genetic testing done showed Germ line mutation of MSH2 gene confirming lynch syndrome. Patient had an uneventful post-operative recovery. Results and Conclusion: Lynch syndrome is one of the most common hereditary cancer susceptibility syndromes. A deleterious mutation in one of the DNA mismatch repair gene is responsible for cases. In our case we identified a family member with synchronous HNPCC tumors; genetic testing identified causative MSH2 mutation. This allowed us to formulate personalized screening program for the successive generation.