A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation

作者: Lu Wang , Mamta Rao , Yuqiang Fang , Meera Hameed , Agnes Viale

DOI: 10.1016/J.JMOLDX.2013.04.001

关键词: Fluorescence in situ hybridizationComparative genomic hybridizationPathologyCutaneous melanomaBioinformaticsMelanomaConcordanceCopy number analysisGenomeclone (Java method)Biology

摘要: Benign melanocytic nevi and cutaneous melanomas can be difficult to differentiate by means of routine microscopic analysis. Recent evidence has suggested that cytogenomic analysis may a useful diagnostic method for evaluation proliferations. We investigated the array-based comparative genomic hybridization (aCGH) platform DNA copy number formalin-fixed, paraffin-embedded (FFPE) tissues in tumors compared aCGH with fluorescence situ (FISH) assays diagnosis melanoma. findings FISH results were interpreted independently blinded fashion. Positive not noted any benign at analysis, whereas substantial unbalanced aberrations revealed 92% melanomas. obtained 72% via four-probe assay (RREB1/MYB/CEP6/CCND1). A few additional studies performed verify some focal amplification oncogenes homozygous deletion tumor suppressor genes. The overall concordance detected using two methods was 90%. Most discrepancies due minor abnormal clone identified below analytical sensitivity FFPE test. Our study demonstrated samples is a robust reliable melanoma tests should used as complementary improve accuracy genetic tumors.

参考文章(32)
Pedram Gerami, Bryan Gammon, Fluorescence in situ hybridization for ambiguous melanocytic tumors Histology and Histopathology. ,vol. 27, pp. 1539- 1542 ,(2012) , 10.14670/HH-27.1539
Pedram Gerami, Richard Cheney, Liaqat Ali, Jeffrey Conroy, Thomas Helm, Sheilla Sait, Joan Guitart, Correlating array comparative genomic hybridization findings with histology and outcome in spitzoid melanocytic neoplasms. International Journal of Clinical and Experimental Pathology. ,vol. 3, pp. 593- 599 ,(2010)
Anne-Katrin Zimmermann, Joachim Diebold, Astrid Hirschmann, David Pfeiffer, Bruno E. Paredes, FISH analysis for diagnostic evaluation of challenging melanocytic lesions. Histology and Histopathology. ,vol. 25, pp. 1139- 1147 ,(2010) , 10.14670/HH-25.1139
Anna Maria Cesinaro, Laura Schirosi, Stefania Bettelli, Mario Migaldi, Antonio Maiorana, Alterations of 9p21 analysed by FISH and MLPA distinguish atypical spitzoid melanocytic tumours from conventional Spitz's nevi but do not predict their biological behaviour. Histopathology. ,vol. 57, pp. 515- 527 ,(2010) , 10.1111/J.1365-2559.2010.03653.X
A. Abásolo, M. T. Vargas, J. J. Ríos-Martín, I. Trigo, A. Arjona, R. González-Cámpora, Application of fluorescence in situ hybridization as a diagnostic tool in melanocytic lesions, using paraffin wax-embedded tissues and imprint-cytology specimens. Clinical and Experimental Dermatology. ,vol. 37, pp. 838- 843 ,(2012) , 10.1111/J.1365-2230.2012.04416.X
Jeffrey P. North, Iwei Yeh, Timothy H. McCalmont, Philip E. LeBoit, Melanomaexblue nevus: two cases resembling large plaque-type blue nevus with subcutaneous cellular nodules Journal of Cutaneous Pathology. ,vol. 39, pp. 1094- 1099 ,(2012) , 10.1111/CUP.12015
Celia Requena, Luis Rubio, Victor Traves, Onofre Sanmartín, Eduardo Nagore, Beatriz Llombart, Carlos Serra, Antonio Fernández-Serra, Rafael Botella, Carlos Guillén, Fluorescence in situ hybridization for the differential diagnosis between Spitz naevus and spitzoid melanoma Histopathology. ,vol. 61, pp. 899- 909 ,(2012) , 10.1111/J.1365-2559.2012.04293.X
Beatrice Vergier, Martina Prochazkova-Carlotti, Arnaud de la Fouchardière, Lorenzo Cerroni, Daniela Massi, Vincenzo De Giorgi, Christiane Bailly, Ulrich Wesselmann, Apollon Karlseladze, Marie-Francoise Avril, Thomas Jouary, Jean-Philippe Merlio, Fluorescence in situ hybridization, a diagnostic aid in ambiguous melanocytic tumors: European study of 113 cases. Modern Pathology. ,vol. 24, pp. 613- 623 ,(2011) , 10.1038/MODPATHOL.2010.228
CHRISTINA DAHL, PER GULDBERG, The genome and epigenome of malignant melanoma. Apmis. ,vol. 115, pp. 1161- 1176 ,(2007) , 10.1111/J.1600-0463.2007.APM_855.XML.X
Sandeep Nambiar, Alireza Mirmohammadsadegh, Ulrich Hengge, Cutaneous melanoma: fishing with chips. Current Molecular Medicine. ,vol. 8, pp. 235- 243 ,(2008) , 10.2174/156652408784221333