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Molecular Diagnostics in Salivary Gland Cytology

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Molecular Diagnostics in Cytopathology

Abstract

Salivary gland tumors (SGTs) can be diagnostically challenging due to morphologic overlap between benign and malignant entities. Fine-needle aspiration (FNA) cytology has proven to be an important tool in the evaluation of SGTs and shows high sensitivity and specificity; however, the diagnostic accuracy of FNA is variable, especially when used to subtype a neoplasm. The cited reasons for the limitation of FNA in the diagnosis of SGTs include the complexity, diversity, and overlap of morphological features, as well as the ever-growing list of newly described entities of SGTs. Several studies have shown that the use of ancillary techniques can be helpful in overcoming these diagnostic challenges. In fact, recent molecular advances have shown that subsets of SGTs are associated with specific translocations and gene fusions, some of which can be used to accurately diagnose SGTs in cytologic material. This chapter will provide an account of the most relevant molecular testing and its application to FNA specimens of SGTs.

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Abbreviations

ACC:

Acinic cell carcinoma

AdCC:

Adenoid cystic carcinoma

AR:

Androgen receptor

BCA:

Basal cell adenoma

BCAdc:

Basal cell adenocarcinoma

Ca-ex-PA:

Carcinoma ex pleomorphic adenoma

CAMSG:

Cribriform adenocarcinoma of the minor salivary glands

EMC:

Epithelial-myoepithelial carcinoma

FC:

Flow cytometry

FFPE:

Formalin-fixed paraffin-embedded

FISH:

Fluorescence in situ hybridization

FNA:

Fine-needle aspiration

GFAP:

Glial fibrillary acidic protein

HCCC:

Hyalinizing clear cell carcinoma

ICC:

Immunocytochemistry

LEF-1 :

Lymphoid enhancer-binding factor 1

MEC:

Mucoepidermoid carcinoma

NGS:

Next-generation sequencing

PA:

Pleomorphic adenoma

PLGA:

Polymorphous (low-grade) adenocarcinoma

RT-PCR:

Reverse transcription-polymerase chain reaction

SDC:

Salivary duct carcinoma

SeCa:

Secretory carcinoma

SGT:

Salivary gland tumor

SMA:

Smooth muscle actin

SQCC:

Squamous cell carcinoma

STAT-5a :

Signal transducer and activator of transcription 5a

WT:

Warthin tumor

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Correspondence to Esther Diana Rossi .

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Rossi, E.D., Baloch, Z.W. (2019). Molecular Diagnostics in Salivary Gland Cytology. In: Roy-Chowdhuri, S., VanderLaan, P., Stewart, J., Santos, G. (eds) Molecular Diagnostics in Cytopathology. Springer, Cham. https://doi.org/10.1007/978-3-319-97397-5_14

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_14

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