title: Chromosomal aberrations of cancer-testis antigens in myeloma patients.
abstract: Cancer-testis antigens (CTAgs) play a major role in the immune response against cancer, but their biological functions in germ and cancer cells is still unclear. MAGE-C1 and MAGE-C2 are two CTAgs located at the Xq27 region of chromosome X and frequently expressed in multiple myeloma. Chromosomal rearrangements often occur in myeloma. We therefore investigated whether numerical and structural chromosomal aberrations correlate with their protein expression in primary multiple myelomas. To this aim, we designed new fluorescence in situ hybridization probes specific for the MAGE region in the Xq27 region and evaluated simultaneously aberrations of the X chromosome centromere. The comparison of MAGE copy number and chromosome X status revealed that MAGE copy number changes occurred in 6/43 (14%) cases, independent of concomitant X chromosome alterations. These numerical aberrations are less frequent than the expression of MAGE-C1 and MAGE-C2 (63% and 27% of patients, respectively) and do not always correlate with MAGE-C1 and MAGE-C2 expressions, suggesting alternative regulatory mechanisms in the expression of these genes.
authors.affiliation: Departement of Oncology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Curioni-Fontecedro
authors.affiliation: Institute of Pathology, Locarno, Switzerland.
authors.forename: Vittoria
authors.initials: V
authors.lastname: Martin
authors.affiliation: Institute of Surgical Pathology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Alexander
authors.initials: A
authors.lastname: Vogetseder
authors.affiliation: Departement of Oncology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Alexander
authors.initials: A
authors.lastname: Knuth
authors.affiliation: Institute of Surgical Pathology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Holger
authors.initials: H
authors.lastname: Moch
authors.affiliation: Institute of Surgical Pathology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Davide
authors.initials: D
authors.lastname: Soldini
authors.affiliation: Institute of Surgical Pathology, University Hospital Zurich, Zurich, Switzerland.|Kempf and Pfaltz, Histologische Diagnostik, Zurich, Switzerland.
authors.forename: Marianne
authors.initials: M
authors.lastname: Tinguely
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; C110905:MAGEC1 protein, human; C405429:MAGEC2 protein, human; D009363:Neoplasm Proteins
keywords: CT7; MAGE; X chromosome; chromosomal aberration; myeloma