Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability 

Slides:



Advertisements
Similar presentations
Amy M. Dworkin, Stephanie Y. Tseng, Dawn C. Allain, O
Advertisements

Somatic Mutation of the 5′ Noncoding Region of the BCL-6 Gene Is Associated with Intraclonal Diversity and Clonal Selection in Histological Transformation.
Genotyping of Chimerical BCR-ABL1 RNA in Chronic Myeloid Leukemia by Integrated DNA Chip  Jong-Hun Kang, Hyun-Gyung Goh, Sang-Ho Chae, Sung-Yong Kim,
A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk.
Development and Applications of a BRAF Oligonucleotide Microarray
Molecular Diagnosis in Ewing Family Tumors
Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A
Thomas W. Prior, Scott J. Bridgeman 
Marguerite Stas, Hugo Degreef  Journal of Investigative Dermatology 
Liisa Väkevä, Annamari Ranki  Journal of Investigative Dermatology 
Active Influx Transport is Mediated by Members of the Organic Anion Transporting Polypeptide Family in Human Epidermal Keratinocytes  Ruth Schiffer, Mark.
Expression of Two Breast-Specific Molecules in the Lung
Molecular Aspects of Melanocytic Dysplastic Nevi
Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Isabel Fernandez-Carvajal, Paulina Walichiewicz,
Kavitha K. Reddy  Journal of Investigative Dermatology 
Microsatellite Instability in Benign Skin Lesions in Hereditary Non-Polyposis Colorectal Cancer Syndrome  Victoria J. Swale, Anthony G. Quinn, Veronique.
High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.
Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease  Stephen J. Meltzer, Manfred Wolter  Journal.
Suzanne M. Morgan, Elizabeth Hodges, Tracey J
Laurent Gouya  Journal of Investigative Dermatology 
Circulating Tumor Cells and Melanoma Progression
Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer
Detection of a Peripheral Blood T Cell Clone is an Independent Prognostic Marker in Mycosis Fungoides  Elisabeth A. Fraser-Andrews, Alison J. Woolford,
Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 
HPV Sequences in Blood of Patients with Condyloma Acuminata
Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations
P16INK4a and p14ARF Tumor Suppressor Genes Are Commonly Inactivated in Cutaneous Squamous Cell Carcinoma  Victoria L. Brown, Catherine A. Harwood, Tim.
Mutational Heterogeneity in Melanoma: An Inconvenient Truth
The Melanocortin 5 Receptor is Expressed in Human Sebaceous Glands and Rat Preputial Cells  Diane Thiboutot, Aruntha Sivarajah, Kathryn Gilliland, Zhaoyuan.
Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich 
Vikas K. Goel, Alexander J. F. Lazar, Carla L. Warneke, Mark S
Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.
Clinical Snippets Journal of Investigative Dermatology
Minutes of the Board of Directors Meeting
Amplification and Overexpression of the EMS 1 Oncogene, a Possible Prognostic Marker, in Human Hepatocellular Carcinoma  Bao-Zhu Yuan, Xiaoling Zhou,
Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay  Thomas M. Daly, Arash Rafii, Rick A. Martin,
Somatic Mutations of Fas (Apo-1/CD95) Gene in Cutaneous Squamous Cell Carcinoma Arising from a Burn Scar  Sug Hyung Lee, Min Sun Shin, Hong Sug Kim, Won.
Journal of Investigative Dermatology
Journal of Investigative Dermatology 
Carol S. Trempus, John E. French, Raymond W. Tennant 
S. Alexiou-Daniel, A. Stylianakis, A. Papoutsi, I. Zorbas, A. Papa, A
MiRNA Expression Profiling in Melanocytes and Melanoma Cell Lines Reveals miRNAs Associated with Formation and Progression of Malignant Melanoma  Daniel.
Society for Investigative Dermatology 2010 Meeting Minutes
Isoform-Selective Upregulation of Mast Cell Chymase in the Development of Skin Fibrosis in Scleroderma Model Mice  Eiichi Kakizoe, Naotaka Shiota, Yoko.
BRAF and NRAS Mutations Are Frequent in Nodular Melanoma but Are not Associated with Tumor Cell Proliferation or Patient Survival  Lars A. Akslen, Sabrina.
Research Snippets Journal of Investigative Dermatology
Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore 
Fetal Microchimerism Is Common in Normal and Diseased Vulvar Skin
Wook Lew  Journal of Investigative Dermatology 
Katie Ridd, Siegrid Yu, Boris C. Bastian 
Research Snippets from the British Journal of Dermatology
Circulating Tumor Cells and Detection of the Melanoma-Associated Antigen HMW-MAA in the Serum of Melanoma Patients  Anja Ulmer, Gerhard Fierlbeck  Journal.
Expression of Opsin Molecule in Cultured Murine Melanocyte
Promoter Hypermethylation of the O6-Methylguanine DNA Methyltransferase Gene and Microsatellite Instability in Metastatic Melanoma  Maija R.J. Kohonen-Corish,
Allelic Loss at Drosophila Patched Gene Is Highly Prevalent in Basal and Squamous Cell Carcinomas of the Skin  Hadi Danaee, Margaret R. Karagas, Karl.
Research Snippets Journal of Investigative Dermatology
Journal of Investigative Dermatology
Xiangfeng Cui, Helen Feiner, Honghua Li 
Detection of BRCA1 and BRCA2 Ashkenazi Jewish Founder Mutations in Formalin- Fixed Paraffin-Embedded Tissues Using Conventional PCR and Heteroduplex/Amplicon.
BRAF Mutations Are Common Somatic Events in Melanocytic Nevi1
CDKN2A and MC1R Mutations in Patients with Sporadic Multiple Primary Melanoma  Ketty Peris, Maria Concetta Fargnoli, Alessia Pacifico, Tiziana Surrenti,
Consequences of Psychological Distress in Adolescents with Acne
Journal of Investigative Dermatology
Activation of B-raf in Non-Malignant Nevi Predicts a Novel Tumor Suppressor Gene in Melanoma (MAP Kinase Phosphatase)  Jack L. Arbiser  Journal of Investigative.
Method of Mutation Analysis May Contribute to Discrepancies in Reports of V599EBRAF Mutation Frequencies in Melanocytic Neoplasms  Christopher J. Miller,
Journal of Investigative Dermatology
Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D
An Association Between Sebaceous Carcinoma and Microsatellite Instability in Immunosuppressed Organ Transplant Recipients  Catherine A. Harwood, Victoria.
Comparison of Genetic Profiles Between Primary Melanomas and their Metastases Reveals Genetic Alterations and Clonal Evolution During Progression  Reiji.
K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T
Presentation transcript:

Analysis of Tumor Cell Evolution in a Melanoma: Evidence of Mutational and Selective Pressure for Loss of p16ink4 and for Microsatellite Instability  Albert Rübben, Philipp Babilas, Jens M. Baron, Anja Hofheinz, Mark Neis, Florian Sels, Markus Sporkert  Journal of Investigative Dermatology  Volume 114, Issue 1, Pages 14-20 (January 2000) DOI: 10.1046/j.1523-1747.2000.00838.x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Competitive multiplex PCR for demonstration of loss of the p16ink4 gene. (a) Calibration of primer ratio, (b) PCR with extracted DNA from primary tumor (P1–P3), metastases (M6, M7) and blood of the patient. pBR322, molecular size marker. Journal of Investigative Dermatology 2000 114, 14-20DOI: (10.1046/j.1523-1747.2000.00838.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Comparison of the methods used for the analysis of PCR-amplified microsatellite DNA. (a) TG-SSCP analysis, (b) analysis in a sequencing gel, (c) conventional sequencing gel versus Southern blot hybridization of the blotted sequencing gel with a (CA)10-oligonucleotide; M, metastases; N, normal formalin-fixed tissue specimens; ▸ loss of DNA bands (LOH); ▹ mutated DNA bands (microsatellite instability); ◃* points to nonspecific DNA bands. Journal of Investigative Dermatology 2000 114, 14-20DOI: (10.1046/j.1523-1747.2000.00838.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Characterization of tumor cell populations. TG-SSCP analysis of PCR-amplified microsatellite DNA obtained from microdissected tissue of the primary tumor (P1–3), from metastases (M7, M6) and from the patient’s blood (B). ▸ loss of DNA bands (LOH); ▹ mutated DNA bands. Journal of Investigative Dermatology 2000 114, 14-20DOI: (10.1046/j.1523-1747.2000.00838.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Putative genealogic tree of tumor cell evolution in the analysed patient obtained from data summarized in Table 1. Journal of Investigative Dermatology 2000 114, 14-20DOI: (10.1046/j.1523-1747.2000.00838.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions