A 19-year-old woman presents with abdominal pain and diarrhea. Colonoscopy reveals hundreds of adenomatous polyps throughout the colon. Vital signs show BP 118/76 mmHg, HR 88 bpm, RR 16/min, temperature 37.2°C, and SpO2 98% on room air. Labs demonstrate hemoglobin 13.8 g/dL and normal inflammatory markers. Her father developed colon cancer at age 35. She denies rectal bleeding. Which genetic mutation most likely explains her polyp burden and cancer risk?
- A)VHL gene mutation
- B)RET proto-oncogene mutation
- C)APC tumor suppressor gene mutationGABARITO
- D)MLH1 mismatch repair gene mutation
- E)TP53 germline mutation
Explicação
Familial adenomatous polyposis is caused by germline mutation of the APC tumor suppressor gene leading to innumerable colonic adenomas. Ver explicação completa e trilha adaptativa →