Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 22, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/ijms22094732
Keywords
droplet digital PCR; FISH; MLPA; copy number variation assessment
Funding
- Azienda Unita Sanitaria Locale-IRCCS Reggio Emilia, Italy
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Cytogenetic and molecular assessments play crucial roles in the diagnosis and treatment of cancer. Laboratory approaches like multiplex ligation-dependent probe amplification and droplet digital PCR are exceptional tools for detecting genetic alterations accurately and sensitively in molecular oncology. Personalized medicine relies on the correct and reliable molecular characterization of diseases, influencing therapeutic choices.
The cytogenetic and molecular assessment of deletions, amplifications and rearrangements are key aspects in the diagnosis and therapy of cancer. Not only the initial evaluation and classification of the disease, but also the follow-up of the tumor rely on these laboratory approaches. The therapeutic choice can be guided by the results of the laboratory testing. Genetic deletions and/or amplifications directly affect the susceptibility or the resistance to specific therapies. In an era of personalized medicine, the correct and reliable molecular characterization of the disease, also during the therapeutic path, acquires a pivotal role. Molecular assays like multiplex ligation-dependent probe amplification and droplet digital PCR represent exceptional tools for a sensitive and reliable detection of genetic alterations and deserve a role in molecular oncology. In this manuscript we provide a technical comparison of these two approaches with the golden standard represented by fluorescence in situ hybridization. We also describe some relevant targets currently evaluated with these techniques in solid and hematologic tumors.
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