Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma—the first step towards clinical personalized medicine

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• 作者：Ilda Patrícia Ribeiro (1) (2)
  Francisco Marques (2) (3) (4)
  Francisco Caramelo (5)
  José Ferr?o (1)
  Hugo Prazeres (6)
  Maria José Juli?o (7)
  Widad Rifi (8)
  Suvi Savola (8)
  Joana Barbosa de Melo (1) (2)
  Isabel Poiares Baptista (2) (3)
  Isabel Marques Carreira (1) (2)
  
• 关键词：Genetic imbalances ; MLPA technique ; Gains and losses ; Oral squamous cell carcinoma
• 刊名：Tumor Biology
• 出版年：2014
• 出版时间：May 2014
• 年：2014
• 卷：35
• 期：5
• 页码：4687-4695
• 全文大小：
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• 作者单位：Ilda Patrícia Ribeiro (1) (2)
  Francisco Marques (2) (3) (4)
  Francisco Caramelo (5)
  José Ferr?o (1)
  Hugo Prazeres (6)
  Maria José Juli?o (7)
  Widad Rifi (8)
  Suvi Savola (8)
  Joana Barbosa de Melo (1) (2)
  Isabel Poiares Baptista (2) (3)
  Isabel Marques Carreira (1) (2)
  
  1. Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal
  2. Center of Investigation on Environment Genetics and Oncobiology (CIMAGO). Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal
  3. Department of Dentistry, Faculty of Medicine, University of Coimbra, 3000-075, Coimbra, Portugal
  4. Stomatology Unit, Coimbra Hospital and University Centre, CHUC, EPE, 3000-075, Coimbra, Portugal
  5. Laboratory of Biostatistics and Medical Informatics, IBILI—Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal
  6. Molecular Pathology Laboratory, Portuguese Institute of Oncology of Coimbra FG, EPE, 3000-075, Coimbra, Portugal
  7. Department of Pathology, Coimbra Hospital and University Centre, CHUC, EPE, 3000-075, Coimbra, Portugal
  8. Department of Tumor Diagnostics, MRC-Holland, 1057DN, Amsterdam, The Netherlands
  
• ISSN：1423-0380

文摘

Oral tumors are a growing health problem worldwide; thus, it is mandatory to establish genetic markers in order to improve diagnosis and early detection of tumors, control relapses and, ultimately, delineate individualized therapies. This study was the first to evaluate and discuss the clinical applicability of a multiplex ligation-dependent probe amplification (MLPA) probe panel directed to head and neck cancer. Thirty primary oral squamous cell tumors were analyzed using the P428 MLPA probe panel. We detected genetic imbalances in 26 patients and observed a consistent pattern of distribution of genetic alterations in terms of losses and gains for some chromosomes, particularly for chromosomes 3, 8, and 11. Regarding the latter, some specific genes were highlighted due to frequent losses of genetic material-em class="a-plus-plus">RARB, FHIT, CSMD1, GATA4, and MTUS1—and others due to gains-em class="a-plus-plus">MCCC1, MYC, WISP1, PTK2, CCND1, FGF4, FADD, and CTTN. We also verified that the gains of MYC and WISP1 genes seem to suggest higher propensity of tumors localized in the floor of the mouth. This study proved the value of this MLPA probe panel for a first-tier analysis of oral tumors. The probemix was developed to include target regions that have been already shown to be of diagnostic/prognostic relevance for oral tumors. Furthermore, this study emphasized several of those specific genetic targets, suggesting its importance to oral tumor development, to predict patients-outcomes, and also to guide the development of novel molecular therapies.