An update on molecular diagnostics of squamous and salivary gland tumors of the head and neck

Arch Pathol Lab Med. 2011 May;135(5):602-9. doi: 10.1043/2010-0655-RAIR.1.


Context: Molecular testing in anatomic pathology is becoming standardized and can contribute valuable diagnostic, therapeutic, and prognostic information for the clinical management of patients. In head and neck pathology, recent advances in molecular testing have provided important targets in several different diagnostic areas, with particular emerging clinical applications in squamous and salivary gland pathology. In squamous mucosal-derived lesions, human papilloma virus has emerged as an important pathogenic etiology in a subset of oropharyngeal squamous cell carcinomas. Within the category of salivary gland tumors, 3 tumors have recently been recognized that contain oncogenic translocations.

Objective: To describe the current state of information about the molecular alterations in squamous lesions and in salivary gland tumors of the head and neck.

Data sources: Published literature on squamous and salivary gland tumors of the head and neck.

Conclusions: The different approaches to identification of viral-associated tumors include assays using polymerase chain reaction, in situ hybridization, and immunohistochemistry. Most mucoepidermoid carcinomas harbor MECT1-MAML2 gene rearrangement. The MYB-NFIB translocations have recently been identified in adenoid cystic carcinomas. Finally, a newly described tumor of salivary gland, mammary analogue secretory carcinoma, harbors the ETV6-NTRK3 translocation. Although these translocations are just emerging as diagnostic targets, future roles may evolve as potential therapeutic targets.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Carcinoma, Adenoid Cystic / diagnosis
  • Carcinoma, Adenoid Cystic / genetics
  • Carcinoma, Adenoid Cystic / metabolism
  • Carcinoma, Mucoepidermoid / diagnosis
  • Carcinoma, Mucoepidermoid / genetics
  • Carcinoma, Mucoepidermoid / metabolism
  • Chromosome Aberrations
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / trends
  • Neoplasms, Squamous Cell / diagnosis*
  • Neoplasms, Squamous Cell / genetics
  • Neoplasms, Squamous Cell / metabolism
  • Polymerase Chain Reaction
  • Precancerous Conditions / diagnosis
  • Precancerous Conditions / genetics
  • Precancerous Conditions / metabolism
  • Salivary Gland Neoplasms / diagnosis*
  • Salivary Gland Neoplasms / genetics
  • Salivary Gland Neoplasms / metabolism
  • Salivary Glands / metabolism
  • Salivary Glands / pathology


  • Biomarkers, Tumor