A 70-year-old man presents with progressive dysphagia. Endoscopy reveals a distal esophageal mass. Biopsy shows gland-forming malignant cells with signet ring cells. Which molecular alteration is most strongly associated with the rising incidence of this tumor type in Western populations?
- A BRAF V600E mutation
- B HER2/neu amplification ✓
- C Microsatellite instability
- D NUTM1 rearrangement
Explanation
The distal esophageal mass with gland-forming cells and signet ring morphology is esophageal adenocarcinoma, whose rising incidence in Western populations is linked to Barrett esophagus and gastroesophageal reflux disease. HER2/neu amplification is found in a significant subset of esophageal adenocarcinomas and is a therapeutic target (trastuzumab). BRAF V600E is seen in melanoma. MSI is seen in Lynch-associated tumors. NUTM1 rearrangement defines NUT carcinoma of the midline.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.