Molecular methods for detection of prognostic and predictive markers in diagnosis of adenoid cystic carcinoma of the salivary gland origin

Česká verze

Authors: Petr Šteiner ^1,2; Jaroslav Pavelka ³; Tomáš Vaneček ^1,2; Markéta Miesbauerová ^1,2; Alena Skálová ^1,2
Authors place of work: Šiklův ústav patologie, Univerzita Karlova v Praze, Lékařská fakulta v Plzni, Plzeň ¹; Bioptická laboratoř, s. r. o., Plzeň ²; Západočeská Univerzita v Plzni, Pedagogická fakulta, Plzeň ³
Published in the journal: Čes.-slov. Patol., 54, 2018, No. 3, p. 132-136
Category: Původní práce

Summary

Adenoid cystic carcinoma of salivary gland origin (AdCC) is second most common salivary carcinoma characterized by frequent recurrences, perineural invasion and high long-term mortality rate. The surgical resection of the tumor in combination with adjuvant radiotherapy is the only method of choice. AdCC has been studied, altogether with immunohistochemistry, by numerous molecular-genetic techniques. Some of them, e.g. reverse-transcription PCR or fluorescent in situ hybridization contributed to the identification of translocation t(6;9)(q22-23;p23-24), which results in fusion of two transcription factors MYB-NFIB. For AdCC is this fusion unique among salivary gland carcinomas and serves as a diagnostical tool in differential diagnosis of histopathologically difficult cases. More complex methods, such as next-generation sequencing helped to detect other molecular level changes; and hence improved understanding of a development, behavior and pathogenesis of this possibly fatal malignancy.

This review summarizes basic knowledge of AdCC on the genome, transcriptome and epigenetic level, which were achieved using molecular-genetic and immunohistochemical methods.

Keywords:

adenoid cystic carcinoma – salivary carcinoma – MYB-NFIB – FISH – aCGH – NGS

Zdroje

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