Molecular diagnostics and personalized medicine in oncology: Challenges and opportunities

Nicola Normanno, Anna Maria Rachiglio, Cristin Roma, Francesca Fenizia, Claudia Esposito, Raffaella Pasquale, Maria Libera La Porta, Alessia Iannaccone, Filippo Micheli, Michele Santangelo, Francesca Bergantino, Susan Costantini, Antonella De Luca

Research output: Contribution to journalArticle

Abstract

Increasing evidence demonstrates that target-based agents are active only in molecularly selected populations of patients. Therefore, the identification of predictive biomarkers has become mandatory to improve the clinical development of these novel drugs. Mutations of the epidermal growth factor receptor (EGFR) or rearrangements of the ALK gene in non-small-cell lung cancer, and BRAF mutations in melanoma are clear examples of driver mutations and predictive biomarkers of response to treatment with specific inhibitors. Predictive biomarkers might also identify subgroups of patients that are not likely to respond to specific drugs, as shown for KRAS mutations and anti-EGFR monoclonal antibodies in colorectal carcinoma. The discovery of novel driver molecular alterations and the availability of drugs capable to selectively block such oncogenic mechanisms are leading to a rapid increase in the number of putative biomarkers that need to be assessed in each single patient. In this respect, two different approaches are being developed to introduce a comprehensive molecular characterization in clinical practice: high throughput genotyping platforms, which allow the detection of recognized genetic aberrations in clinical samples, and next generation sequencing that can provide information on all the different types of cancer-causing alterations. The introduction of these techniques in clinical practice will increase the possibility to identify molecular targets in each individual patient, and will also allow to follow the molecular evolution of the disease during the treatment. By using these approaches, the development of personalized medicine for patients with cancer will finally become possible. J. Cell. Biochem. 114: 514-524, 2013.

Original languageEnglish
Pages (from-to)514-524
Number of pages11
JournalJournal of Cellular Biochemistry
Volume114
Issue number3
DOIs
Publication statusPublished - Mar 2013

Fingerprint

Molecular Medicine
Precision Medicine
Oncology
Molecular Pathology
Biomarkers
Medicine
Mutation
Epidermal Growth Factor Receptor
Pharmaceutical Preparations
Aberrations
Molecular Evolution
Gene Rearrangement
Non-Small Cell Lung Carcinoma
Genes
Monoclonal Antibodies
Cells
Throughput
Availability
Colorectal Neoplasms
Melanoma

Keywords

  • CANCER
  • MOLECULAR DIAGNOSTICS
  • NEXT GENERATION SEQUENCING
  • PERSONALIZED MEDICINE

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

Molecular diagnostics and personalized medicine in oncology : Challenges and opportunities. / Normanno, Nicola; Rachiglio, Anna Maria; Roma, Cristin; Fenizia, Francesca; Esposito, Claudia; Pasquale, Raffaella; La Porta, Maria Libera; Iannaccone, Alessia; Micheli, Filippo; Santangelo, Michele; Bergantino, Francesca; Costantini, Susan; De Luca, Antonella.

In: Journal of Cellular Biochemistry, Vol. 114, No. 3, 03.2013, p. 514-524.

Research output: Contribution to journalArticle

Normanno, N, Rachiglio, AM, Roma, C, Fenizia, F, Esposito, C, Pasquale, R, La Porta, ML, Iannaccone, A, Micheli, F, Santangelo, M, Bergantino, F, Costantini, S & De Luca, A 2013, 'Molecular diagnostics and personalized medicine in oncology: Challenges and opportunities', Journal of Cellular Biochemistry, vol. 114, no. 3, pp. 514-524. https://doi.org/10.1002/jcb.24401
Normanno, Nicola ; Rachiglio, Anna Maria ; Roma, Cristin ; Fenizia, Francesca ; Esposito, Claudia ; Pasquale, Raffaella ; La Porta, Maria Libera ; Iannaccone, Alessia ; Micheli, Filippo ; Santangelo, Michele ; Bergantino, Francesca ; Costantini, Susan ; De Luca, Antonella. / Molecular diagnostics and personalized medicine in oncology : Challenges and opportunities. In: Journal of Cellular Biochemistry. 2013 ; Vol. 114, No. 3. pp. 514-524.
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