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REVIEW  CLINICAL DIAGNOSIS OF ENDOCRINE DISEASES 

Minerva Endocrinologica 2018 September;43(3):285-93

DOI: 10.23736/S0391-1977.17.02735-3

Copyright © 2017 EDIZIONI MINERVA MEDICA

lingua: Inglese

Evaluation of somatic genomic imbalances in thyroid carcinomas of follicular origin by CGH-based approaches

Federica BALDAN 1, Catia MIO 2, Lorenzo ALLEGRI 2, Nadia PASSON 3, Saverio M. LEPORE 4, Diego RUSSO 4, Giuseppe DAMANTE 2, 3

1 Department of Internal Medicine and Medical Specialties, “Sapienza” University of Rome, Rome, Italy; 2 Department of Medical Area, University of Udine, Udine, Italy; 3 Institute of Medical Genetics, Universitary Hospital, Udine, Italy; 4 Department of Health Sciences, “Magna Graecia” University of Catanzaro, Catanzaro, Italy


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Application of distinct technologies of cancer genome analysis has provided important information for the molecular characterization of several human neoplasia, including follicular cell-derived thyroid carcinoma. Among them, comparative genomic hybridization (CGH)-based procedures have been extensively applied to evaluate genomic imbalances present in these tumours, obtaining data leading to an increase in the understanding of their complexity and diversity. In this review, after a brief overview of the most commonly used CGH-based technichs, we will describe the major results deriving from the most influential studies in the literature which used this approach to investigate the genomic aberrations of thyroid cancer cells. In most studies a small number of patients have been analyzed. Deletions and duplications at different chromosomal regions were detected in all investigated cohorts. A higher number of genomic imbalances has been detected in anaplastic or poorly differentiated thyroid carcinomas compared to well differentiated ones. Limitations in the interpretation of the results, as well the potential impact in the clinical practice are discussed. Though a quite heterogeneous picture arises from results so far available, CGH array, combined with other methodologies as well as an accurate clinical management, may offer novel opportunities for a better stratification of thyroid cancer patients.


KEY WORDS: Comparative genomic hybridization - Mutation - Thyroid neoplasms

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