Molecular Cytology Applications on Head and Neck

  • Marc P. PusztaszeriEmail author
  • Joaquín J. García
  • William C. Faquin


Head and neck pathology is a complex subspecialty that is unique because of its diversity of tissue types within the same limited anatomic region, with a wide range of reactive, benign, low-grade, and high-grade tumors. Thyroid nodules, salivary gland tumors, and cervical lymph nodes represent three unique areas within the head and neck that are, because of their superficial nature, commonly and easily amenable to cytopathological examination through the use of fine needle aspiration (FNA). Accordingly, FNA is often the first line intervention for the diagnosis and triage of many head and neck masses. FNA is efficient, cost-effective, and overall sensitive and accurate. Nonetheless, there are limitations and challenging diagnostic areas due to cytomorphological overlap between non-neoplastic, benign, and malignant lesions. Several ancillary techniques and markers are currently available for optimizing the cytomorphological evaluation of head and neck tumors by FNA, and they can play an important role in achieving an accurate diagnosis and guiding the management of patients with head and neck lesions. The most important applications of ancillary molecular markers for FNA in the head and neck are: Indeterminate lesions of the thyroid, detection of infectious organisms (e.g., tuberculosis) using PCR, diagnosis of lymphoproliferative disorders using flow cytometry, classification of metastatic carcinomas of unknown primary site through HPV testing, and diagnosis of a subset of salivary gland tumors characterized by specific translocations. In this chapter, we review a subset of the molecular cytology applications pertaining to a variety of important head and neck lesions; thyroid, lymphoproliferative disease, and soft tissue lesions (pediatric tumors) that can also involve the head and neck are discussed in separate chapters.


Immunocytochemistry Head and neck Cytology Fine needle aspiration HPV Salivary glands Translocation Molecular 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Marc P. Pusztaszeri
    • 1
    Email author
  • Joaquín J. García
    • 2
  • William C. Faquin
    • 3
    • 4
  1. 1.Department of PathologyMcGill UniversityMontrealCanada
  2. 2.Department of Laboratory Medicine and PathologyMayo ClinicRochesterUSA
  3. 3.Department of PathologyMassachusetts General HospitalBostonUSA
  4. 4.Harvard Medical SchoolBostonUSA

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