Fluorescence in situ hybridization in surgical pathology: principles and applications

Liang Cheng, Shaobo Zhang, Lisha Wang, Gregory T. MacLennan, Darrell D. Davidson

Research output: Contribution to journalReview article

11 Scopus citations

Abstract

Identification of recurrent tumour-specific chromosomal translocations and novel fusion oncogenes has important diagnostic, therapeutic and prognostic implications. Over the past decade, fluorescence in situ hybridization (FISH) analysis of tumour samples has been one of the most rapidly growing areas in genomic medicine and surgical pathology practice. Unlike traditional cytogenetics, FISH affords a rapid analysis of formalin-fixed, paraffin-embedded cells within a routine pathology practice workflow. As more diagnostic and treatment decisions are based on results of FISH, demand for the technology will become more widespread. Common FISH-detected alterations are chromosome deletions, gains, translocations, amplifications and polysomy. These chromosome alterations may have diagnostic and therapeutic implications for many tumour types. Integrating genomic testing into cancer treatment decisions poses many technical challenges, but rapid progress is being made to overcome these challenges in precision medicine. FISH assessment of chromosomal changes relevant to differential diagnosis and cancer treatment decisions has become an important tool for the surgical pathologist. The aim of this review is to provide a theoretical and practical survey of FISH detected translocations with a focus on strategies for clinical application in surgical pathology practice.

Original languageEnglish (US)
Pages (from-to)73-99
Number of pages27
JournalJournal of Pathology: Clinical Research
Volume3
Issue number2
DOIs
StatePublished - Apr 2017

Keywords

  • differential diagnosis
  • fluorescence in situ hybridization
  • molecular genetics/cytogenetics
  • precision medicine
  • targeted therapy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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