(12) United States Patent (10) Patent No.: US 7,615,349 B2 Riker Et Al
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US007615349B2 (12) United States Patent (10) Patent No.: US 7,615,349 B2 Riker et al. (45) Date of Patent: Nov. 10, 2009 (54) MELANOMA GENESIGNATURE Barrow et al., “Tumor Antigen Expression in Melanoma Varies According to Antigen and Stage.” Clin. Can. Res., vol. 12:764-771 (75) Inventors: Adam I. Riker, Mobile, AL (US); (2006). Steven Alan Enkemann, Lutz, FL (US) Bauskin et al., “Role of Macrophage Inhibitory Cytokine-1 in Tumorigenesis and Diagnosis of Cancer. Cancer Research, vol. (73) Assignees: H. Lee Moffitt Cancer Center and 66:4983-4986 (2006). Research Institute, Inc., Tampa, FL Baylin et al., “Alterations in DNA Methylation: A Fundamental (US); University of South Florida, Aspect of Neoplasia.” Adv. in Cancer Res, vol. 72: 141-196 (1998). Tampa, FL (US) Bittner et al., “Molecular classification of cutaneous malignant mela noma by gene expression profiling.” Nature, vol. 406:536-540 (*) Notice: Subject to any disclaimer, the term of this (2000). patent is extended or adjusted under 35 Brasseur et al. “Expression of Mage Genes in Primary and Metastatic U.S.C. 154(b) by 0 days. Cutaneous Melanoma.” Int. J. Cancer, vol. 63:375-380 (1995). Cascinelli et al., “Sentinel Lymph Node Biopsy in Cutaneous Mela (21) Appl. No.: 11/852,102 noma: The WHO Melanoma Program Experience.” Annals of Surgi cal Oncology, vol. 7:469-474 (2000). (22) Filed: Sep. 7, 2007 Chen et al., “Decreased PITX1 homeobox gene expression in human lung cancer.” Lung Cancer, vol. 55:287-294 (2007). (65) Prior Publication Data Coppola et al., “Correlation of Osteopontin Protein Expression and US 2008/O113360A1 May 15, 2008 Pathological Stage across a Wide Variety of Tumor Histologies.” Clin. Can. Res., vol. 10:184-190 (2004). Related U.S. Application Data DeRisi et al., “Use of a cDNA microarray to analyze gene expression patterns in human cancer.” Nature Genetics, vol. 14:457-460 (1996). (60) Provisional application No. 60/824,849, filed on Sep. Dobbin et al., “Interlaboratory Comparability Study of Cancer Gene 7, 2006. Expression Analysis Using Oligonucleotide Microarrays.” Clinical Cancer Research, vol. 11:565-572 (2005). (51) Int. Cl. Eton et al., “Prognostic Factors for Survival of Patients Treated CI2O I/68 (2006.01) Systemically for Disseminated Melanoma.” Journal of Clinical (52) U.S. Cl. .......................................................... 435/6 Oncology, vol. 16:1103-1111 (1998). (58) Field of Classification Search ...................... 435/6 Fujiwara et al., “Isolation of a candidate tumor Suppressor gene on See application file for complete search history. chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene.” Oncogene, vol. 10:891-895 (56) References Cited (1995). Gallagher et al., “Multiple markers for melanoma progression regu U.S. PATENT DOCUMENTS lated by DNA methylation: Insights from transcriptomic studies.” 7,056,674 B2 6, 2006 Baker et al. Carcinogenesis, vol. 26:1856-1867 (2005). 7,081,340 B2 7/2006 Baker et al. Garraway et al., “Integrative genomic anlayses identify MITF as a 7,171,311 B2 1/2007 Dai et al. lineage Survival oncogene amplified in malignant melanoma.” 7,247.426 B2 7/2007 Yakhini et al. Nature, vol. 436:117-122 (2005). 2006, O183141 A1 8/2006 Change et al. Golub et al., “Molecular Classification of Cancer: Class Discovery 2007/O154889 A1 7/2007 Wang et al. and Class Prediction by Gene Expression Monitoring.” Science, vol. 286:531-537 (1999). Haddad et al., “The Progression of Melanoma Nodal Metastasis is OTHER PUBLICATIONS Dependent on Tumor Thickness of the Primary Lesion.” Annals of Surgical Oncology, vol. 6: 144-149 (1999). Tockman et al (Cancer Res., 1992, 52:271 1s-2718s).* Hanahan et al., “The Hallmarks of Cancer. Cell, vol. 100:57-70 Greenbaum et al. (Genome Biology, 2003, vol. 4, Issue 9, pp. 117.1- (2000). 117.8).* Haqq et al., “The gene expression signatures of melanoma progres Glas et al., "Converting a breast cancer microarray signature into a sion.” Proc. Natl. Acad. Sci. U. S. A., vol. 102:6092-6097 (2005). high-throughput diagnostic test.” BMC Genomics, vol. 7:278-288 Harbig et al., “A sequence-based identification of the genes detected (2006). by probesets on the Affymetrix U133 plus 2.0 array.” Nucleic Acids Ai et al., “Epigenetic Silencing of the Tumor Suppressor Cystatin M Occurs during Breast Cancer Progression.” Cancer Research, vol. Research, vol. 33.e31 (2005). 66:7900-7909 (2006). (Continued) An et al., “Deletion of tumor Suppressor genes in Chinese non-Small cell lung cancer.” Cancer Letters, vol. 184:189-195 (2002). Primary Examiner Sean E Aeder Balch et al. “A New American Joint Committee on Cancer Staging (74) Attorney, Agent, or Firm Fish & Richardson P.C. System for Cutaneous Melanoma.” Cancer, vol. 88: 1484-1491 (2000). (57) ABSTRACT Balch et al., “Final version of the American Joint Committee on Cancer Staging System for Cutaneous Melanoma.” Journal of Clini cal Oncology, vol 19:3635-3648 (2001). Methods and compositions for evaluating gene expression in Balch et al., “Prognostic Factors Analysis of 17,600 Melanoma Patients: Validation of the American Joint Committee on Cancer melanoma samples are provided herein. Melanoma Staging System.” Joint of Clinical Oncology, vol. 19:3622-3634 (2001). 8 Claims, 6 Drawing Sheets US 7,615,349 B2 Page 2 OTHER PUBLICATIONS Warrington et al., “Comparison of human adult and fetal expression and identification of 535 housekeeping/maintenance genes.” Physiol. Herman et al., “Gene Silencing in Cancer in Association with Pro Genomics, vol. 2: 143-147 (2000). moter Hypermethylation.” N. Engl. J. Med., vol. 349:2042-2054 Weyers et al., “Classification of Cutaneous Malignant Melanoma: A (2003). Reassessment of Histopathologic Criteria for the Distinction of Dif Hodi. “Well-DefinedMelanoma Antigens as Progression Markers for ferentTypes.” Cancer, vol. 86:288-299 (1999). Melanoma: Insights into Differential Expression and Host Response Winnepenninckx et al., “Gene Expression Profiling of Primary Cuta Based on Stage.” Clin. Can. Res., vol. 12:673-678 (2006). neous Melanoma and Clinical Outcome,” J. Natl. Cancer Inst., vol. Jaeger et al., “Gene Expression Signatures for Tumor Progression, 98:472-482 (2006). Tumor Subtype, and Tumor Thickness in Laser-Microdissected Wollmann et al., “The macrophage inhibitory cytokine integrates Melanoma Tissues.” Clin. Can. Res., vol. 13:806-815 (2007). AKT/PKB and MAP kinase signaling pathways in breast cancer Jemal et al., "Cancer Statistics, 2007, C.A. Cancer J. Clin., vol. cells.” Carcinogenesis, vol. 26:900-907 (2005). 57:43-66 (2007). Zhang et al., “Aberrant promoter methylation and silencing of the Jensen et al., “Down-Regulation of Pro-Apoptotic Genes is an Early POU2F3 gene in cervical cancer.” Oncogene, vol. 25:5436-5445 Event in the Progression of Malignant Melanoma.” Annals of Surgi (2006). cal Oncology, vol. 14:1416-1423 (2007). Zhou et al., “Osteopontin Expression Correlates with Melanoma Kim et al., “Epigenomic Profiling Reveals Novel and Frequent Tar Invasion.” J. Invest. Dermatol., vol. 124:1044-1052 (2005). gets of Aberrant DNA Methylation-Mediated Silencing in Malignant Alonso et al., “A High-Throughput Study in Melanoma Identifies Glioma.” Cancer Res., vol. 66:7490-7501 (2006). Epithelial-Mesenchymal Transition as a Major Determinant of Kolfschoten et al., “A genetic screen identifies PITX1 as a suppressor Metastasis.” Cancer Research, vol. 67:3450-3460 (2007). of RAS activity and tumorigenicity.” Cell, vol. 121:849-858 (2005). Baldi et al., “Identification of genes down-regulated during mela Lerebours et al., “Fine Deletion Mapping of Chromosome 8p in noma progression: a cDNA array study.” Experimental Dermatology, Non-Small-Cell Lung Carcinoma.” Int. J. Cancer, vol. 81:854-858 vol. 12:213-218 (2003). (1999). Becker et al., “Discrimination of Melanocytic Tumors by cDNA Levy et al., “MITF. master regulator of melanocyte development and Array Hybridization of Tissues Prepared by Laser Pressure Catapult melanoma oncogene.” Trends Molecular Medicine, vol. 12:406-414 ing.” The Journal of Investigative Dermatology, vol. 122:361-368 (2006). (2004). Li et al., “Model-based analysis of oligunucleotide arrays: Expres De Wit et al., “Analysis of differential gene expression in human sion index computation and outlier detection.” Proc. Natl. Acad. Sci. melanocytic tumour lesions by custom made oligonucleotide arrays.” U.S.A., vol. 98:31-36 (2001). British Journal of Cancer, vol. 92:2249-2261 (2005). Lord et al... “Increased CDX2 and decreased PITXI homeobox gene Dooley et al., “DNA Microarrays and Likelihood Ratio expression in Barrett's esophagus and Barrett’s-associated Bioinformatic Methods: Discovery of Human Melanocyte Biomark adenocarcinoma.” Surgery, vol. 138:924-931 (2005). ers.” Pigment Cell Res., vol. 16:245-253 (2003). McGill et al., “c-Met Expression is Regulated by Mitf in the Eisen et al., "Cluster analysis and display of genome-wide expression Melanocyte Lineage.” J. Biol. Chem., vol. 281: 10365-10373 (2006). patters.” Proc. Nat. Acad. Sci. USA, vol.95:14863-14868 (1998). Momparler, “Cancer epigenetics.” Oncogene, vol. 22:6479-6483 Felicetti et al., “Role of PLZF in melanoma progression.” Oncogene, (2003). vol. 23:4567-4576 (2004). Muthusamy et al., “Epigenetic Silencing of Novel Tumor Suppres Ghosh et al., “Three-Dimensional Culture of Melanoma Cells Pro sors in Malignant Melanoma.” Cancer Res., vol. 66:11187-11 193 foundly Affects Gene Expression Profile: A High Density (2006). Oligonucleotide Array Study,” Journal of Cellular Physiology, vol. Riker, “Isolation and Culture of Melanoma Cell Lines. Cancer Cell 204:522-531 (2005). Culture. Methods and Protocols, Totowa: Humana Press, vol. 88: 93 Heyer et al., “Exploring Expression Data: Identification and Analysis 100 (2004). of Coexpressed Genes' Genome Research, vol. 9:1106-1115 (1999). Riker et al., Development and Characterization of Melanoma Cell Hoek et al., “Expression Profiling Reveals Novel Pathways in the Lines Established by Fine Needle Aspiration Biopsy: Advances in the Transformation of Melanocytes to Melanomas.” Cancer Research, Monitoring of Patients with Metastatic Melanoma, Cancer Detection vol.