title: A recurrent pattern of chromosomal aberrations and immunophenotypic appearance defines anal squamous cell carcinomas.
abstract: Squamous cell carcinomas of the anus are rare neoplasias that account for about 3% of large bowel tumours. Infections with human papillomaviruses are frequently detected in these cancers, suggesting that pathogenic pathways in anal carcinomas and in carcinomas of the uterine cervix are similar. Little is known regarding recurrent chromosomal aberrations in this subgroup of squamous cell carcinomas. We have applied comparative genomic hybridization to identify chromosomal gains and losses in 23 cases of anal carcinomas. A non-random copy number increase of chromosomes 17 and 19, and chromosome arm 3q was observed. Consistent losses were mapped to chromosome arms 4p, 11q, 13q and 18q. A majority of the tumours were aneuploid, and most of them showed increased proliferative activity as determined by staining for Ki-67 antigen. p53 expression was low or undetectable, and expression of p21/WAF-1 was increased in most tumours. Sixteen cancers were satisfactorily tested for the presence of HPV by consensus L1-primer polymerase chain reaction; nine were HPV positive, of which eight were positive for HPV 16.
authors.affiliation: National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
authors.forename: K
authors.initials: K
authors.lastname: Heselmeyer
authors.forename: S
authors.initials: S
authors.lastname: du Manoir
authors.forename: H
authors.initials: H
authors.lastname: Blegen
authors.forename: B
authors.initials: B
authors.lastname: Friberg
authors.forename: C
authors.initials: C
authors.lastname: Svensson
authors.forename: E
authors.initials: E
authors.lastname: Schröck
authors.forename: T
authors.initials: T
authors.lastname: Veldman
authors.forename: K
authors.initials: K
authors.lastname: Shah
authors.forename: G
authors.initials: G
authors.lastname: Auer
authors.forename: T
authors.initials: T
authors.lastname: Ried
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001005:Anus Neoplasms / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002869:Chromosome Aberrations; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D027383:Papillomaviridae / Q000235:genetics; D012008:Recurrence; D016159:Tumor Suppressor Protein p53 / Q000032:analysis
chemical_list: C493956:CDKN1A protein, human; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins; D016159:Tumor Suppressor Protein p53