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

Fluorescence in situ hybridisation (FISH) of a salivary gland tumor reveals EWSR1-ATF1 gene fusion. Which tumor does this molecular finding most specifically diagnose?

  • A Mucoepidermoid carcinoma
  • B Adenoid cystic carcinoma
  • C Hyalinising clear cell carcinoma
  • D Secretory carcinoma
Correct answer: C. Hyalinising clear cell carcinoma

Explanation

EWSR1-ATF1 fusion is the defining molecular alteration of hyalinising clear cell carcinoma (HCCC) of salivary glands, a low-grade malignancy recognised in the WHO 5th edition head and neck classification. Mucoepidermoid carcinoma harbours CRTC1/3-MAML2 fusions; adenoid cystic carcinoma shows MYB-NFIB or MYBL1 rearrangements; secretory carcinoma is characterised by ETV6-NTRK3 fusion. Molecular confirmation is decisive when histology is ambiguous.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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