title: A recurrent gain of chromosome arm 3q in primary squamous carcinoma of the vagina.
abstract: Primary carcinomas of the vagina are rare tumors, accounting for 2%-3% of all gynecologic malignancies. Only a few karyotypes based on chromosome banding techniques have been reported. We have, therefore, used comparative genomic hybridization to establish a pattern of genomic imbalances in vaginal squamous cell carcinomas. Analysis of 16 formalin-fixed and paraffin-embedded tumors revealed that 70% of vaginal carcinomas carry relative copy number increases that map to chromosome arm 3q. Other recurring gains were observed on chromosome arms 5p and 19p. Chromosomal losses were infrequent. Most tumors were aneuploid, as measured by image cytometry on Feulgen-stained tissue sections. The cytogenetic data were related to the presence of human papillomavirus genomes, expression of laminin-5 as a marker for invasiveness, and expression levels of markers for proliferative activity and mutated TP53. All relevant clinical data were recorded. The results suggest that vaginal carcinomas are defined by a specific distribution of chromosomal aneuploidies and that the pattern of genomic imbalances is strikingly similar to that observed in squamous cell carcinomas of the uterine cervix. Age at diagnosis (P=0.031), tumor size (P=0.025), and increased laminin-5 expression (P=0.006) have a significant influence on the survival time.
authors.affiliation: Genetics Branch, Center for Cancer Research, National Cancer Institute/NIH, Building 50, Room 1408, 50 South Drive, Bethesda, MD 20892-8010, USA.
authors.forename: Jens K
authors.initials: JK
authors.lastname: Habermann
authors.forename: Kristina
authors.initials: K
authors.lastname: Hellman
authors.forename: Sandra
authors.initials: S
authors.lastname: Freitag
authors.forename: Kerstin
authors.initials: K
authors.lastname: Heselmeyer-Haddad
authors.forename: Ann-Cathrin
authors.initials: AC
authors.lastname: Hellström
authors.forename: Keerti
authors.initials: K
authors.lastname: Shah
authors.forename: Gert
authors.initials: G
authors.lastname: Auer
authors.forename: Thomas
authors.initials: T
authors.lastname: Ried
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000821:virology; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3; D005260:Female; D042822:Genomic Instability; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D027383:Papillomaviridae / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000032:analysis; D014625:Vaginal Neoplasms / Q000235:genetics* / Q000821:virology
chemical_list: D016159:Tumor Suppressor Protein p53