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Malapelle et al. J Transl Genet Genom 2019;3:3 Journal of Translational
DOI: 10.20517/jtgg.2018.29 Genetics and Genomics

Review Open Access

Personalized genomic medicine: non-small-cell lung
cancer and anaplastic lymphoma kinase

Umberto Malapelle , Luigi Della Gravara , Ciro Battiloro , Aniello Avellino , Danilo Rocco 3
2
1
3
3
1 Department of Public Health, “Federico II” University, Naples 80131, Italy.
2 Department of Precision Medicine, “Luigi Vanvitelli” University, Naples 80131, Italy.
3 Department of Pulmonary Oncology, AORN dei Colli Monaldi, Naples 80131, Italy.
Correspondence to: Dr. Danilo Rocco, Department of Pulmonary Oncology, AORN dei Colli Monaldi, Naples 80131, Italy.
E-mail: danilorocc@yahoo.it
How to cite this article: Rocco D, Della Gravara L, Battiloro C, Avellino A, Malapelle U. Personalized genomic medicine: non-small-cell
lung cancer and anaplastic lymphoma kinase. J Transl Genet Genom 2019;3:3. https://doi.org/10.20517/jtgg.2018.29
Received: 21 Sep 2018 First Decision: 11 Dec 2018 Revised: 20 Dec 2018 Accepted: 21 Dec 2018 Published: 19 Feb 2019

Science Editor: Sheng-Ying Qin Copy Editor: Cui Yu Production Editor: Huan-Liang Wu

Abstract
Genomic medicine, that is to say, using genomic information about a patient in order to set the diagnostic path and to
tailor therapy to his/her specific characteristics, is one of the cornerstones of modern precision medicine and forms an
integral part of several fields, oncology first of all. Lung cancer is the leading cause of cancer mortality, causing more
than 1.6 million deaths worldwide per year and non-small-cell lung cancer (NSCLC) accounts for approximately 85% of
lung cancers. In a small subset of NSCLC (5%-8%), we can detect a genomic rearrangement on chromosome 2, between
the Echinoderm microtubule-associated protein-like 4 (EML4) gene and the anaplastic lymphoma kinase (ALK) gene,
resulting in the chimeric protein EML4-ALK, that acts as an oncogene and that can be specifically targeted by an ALK-
tyrosine kinase inhibitor (TKI) therapy. However, a major clinical challenge is represented by the fact that, after a first
line ALK-TKI treatment, patients eventually develop acquired resistance to these agents, opening new scenarios for the
right second-line drug choice.

Keywords: Precision medicine, genomic medicine, non-small-cell lung cancer, Echinoderm microtubule-associated protein-
like 4-anaplastic lymphoma kinase, anaplastic lymphoma kinase, tyrosine kinase inhibitor

INTRODUCTION
Targeted therapy is one of the greatest achievements in modern day precision oncology, allowing to
specifically target molecular drivers, mainly responsible for cancer-cells development, proliferation and
survival in several tumor subsets, anaplastic lymphoma kinase (ALK) rearranged non-small-cell lung cancer
(NSCLC) included.

© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
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sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
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