Document Detail

Genetic alterations in primary cutaneous CD30+ anaplastic large cell lymphoma.
MedLine Citation:
PMID:  12696066     Owner:  NLM     Status:  MEDLINE    
Primary cutaneous CD30+ anaplastic large cell lymphoma (C-ALCL) represents a distinct clinical subtype of CD30+ anaplastic large cell lymphomas. The etiology and underlying molecular pathogenesis of C-ALCL remain unclear. This study aimed to investigate genetic changes in C-ALCL. Comparative genomic hybridization (CGH) analysis of 23 DNA samples from 15 C-ALCL cases identified chromosome imbalances (CI) in 10 samples from eight cases (43%). The mean number of CI per sample was 2.09 +/- 3.86, with gains (2.00 +/- 3.85) more common than losses (0.09 +/- 0.29). The most frequent CI were gains of 1/1p and 5 (50%) and 6, 7, 8/8p, and 19 (38%). Microarray-based CGH analysis of six DNA samples from five cases with CI revealed genomic imbalances (GI) in all of the cases studied. This included oncogene copy number gains of FGFR1 (8p11) in three cases, and NRAS (1p13.2), MYCN (2p24.1), RAF1 (3p25), CTSB (8p22), FES (15q26.1), and CBFA2 (21q22.3) in two cases. Real-time PCR analysis of nine DNA samples from eight cases with CI and GI detected amplifications of CTSB and RAF1 in seven cases (88%), REL (2p13p12) and JUNB (19p13.2) in six cases (75%), and MYCN and YES1 (18p11.3) in four cases (50%). Immunohistochemical staining of paraffin sections from six cases demonstrated expression of JUNB protein in five cases and BCL2 in three cases. These results reveal a consistent pattern of genetic alterations in C-ALCL and provide the molecular basis for further investigation of this disease.
Xin Mao; Guy Orchard; Debra M Lillington; Robin Russell-Jones; Bryan D Young; Sean Whittaker
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  37     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-04-15     Completed Date:  2003-06-06     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  176-85     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Skin Tumour Unit, St. John's Institute of Dermatology, St. Thomas' Hospital, London, United Kingdom.
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MeSH Terms
Antigens, CD30 / analysis,  biosynthesis*
Chromosome Aberrations / statistics & numerical data
Chromosome Deletion
DNA, Neoplasm / genetics
Gene Amplification / genetics
Gene Dosage
Immunophenotyping / methods,  statistics & numerical data
Lymphoma, Large-Cell, Anaplastic / diagnosis,  genetics*
Metaphase / genetics
Nucleic Acid Hybridization / methods
Oligonucleotide Array Sequence Analysis / methods,  statistics & numerical data
Oncogenes / genetics
Reverse Transcriptase Polymerase Chain Reaction
Skin Neoplasms / diagnosis,  genetics*
Reg. No./Substance:
0/Antigens, CD30; 0/DNA, Neoplasm

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