Multitarget fluorescence in situ hybridization diagnostic applications in solid and hematological tumors

ABSTRACT

Introduction: Multitarget FISH (mFISH) is a technique allowing for simultaneous detection of multiple targets sequences on the same slide through the choice of spectrally distinct fluorophore labels. The mFISH could represent a useful tool in the field of precision oncology.

Areas covered: This review discusses the potential applications of mFISH technology in the molecular diagnosis of different solid and hematological tumors, including non-small cell lung cancers, melanomas, renal cell carcinomas, bladder carcinomas, germ cell tumors, and multiple myeloma, as commonly required in the clinical practice.

Expert Opinion: In this emerging era of the tailored therapies and newer histo-molecular classifications, there are increasing numbers of predictive and diagnostic biomarkers required for effective clinical care. The mFISH approach may have several applications in the common clinical practice, improving the molecular diagnosis in terms of time, cost and preservation of biomaterial for tumors with a limited amount of tumor available. The mFISH provides several advantages compared to other high-throughput technologies; however, it requires high level of expertise required to interpret complex results.

KEYWORDS:

• Multitarget fluorescence in situ hybridization
• non-small cell lung cancer
• melanoma
• renal cell neoplasia
• bladder carcinoma
• multiple myeloma

Article highlights

• Multitarget fluorescence in situ hybridization (mFISH) could have a large application in oncologic field for diagnostic, prognostic and predictive purposes.

• In non-small cell lung cancer, the multitarget ALK/ROS1 FISH represents a useful tool in cytological specimens with a small amount of biomaterial.

• In melanoma the multitarget RREB1/MYB/CCND1/CEP6 FISH could distinguish between histologically unequivocal melanomas and benign nevi.

• The multitarget FISH assay plays a pivotal role in the renal cell carcinomas subtyping.

• The multitarget FISH assay may be useful for the detection of bladder cancer in urine specimens.

• The mFISH panel TP53, t(4;14), t(14;16) is mandatory in the diagnostic of multiple myeloma and in the expanded version it is integrated with probes for t(14;20), t(11;14) and 1p deletion/1q duplication.

Declaration of interest

All authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

One peer reviewer has worked as a consultant for Agilent Technologies, Euro Diagnostica, Oncology Venture, Azanta, Alligator Biosciences, and Leo Pharma and has given lectures at meetings sponsored by AstraZeneca, Merck Sharp & Dohme, and Roche. Peer reviewers on this manuscript have no other relevant financial relationships or otherwise to disclose.

Additional information

Funding

This paper received no funding.