Pathology · Neoplasia (Classification, Carcinogenesis, Tumor Markers, Paraneoplastic)

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
Correct answer: B. HER2/neu amplification

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

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