title: Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.
abstract: The etiology of mycosis fungoides (MF), the most frequent form of cutaneous T cell lymphoma (CTCL), is poorly understood. No specific genetic aberration has been detected, especially in early-stage disease, possibly due to the clinical and histological heterogeneity of patient series and to the different sources of malignant cells (skin, blood, or lymph node) included in most studies. Frozen skin biopsies from 16 patients with early-stage MF were studied using array-based comparative genomic hybridization. A DNA pool from healthy donors was used as the reference. Results demonstrated recurrent loss of 19, 7p22.1-p22.3, 7q11.1-q11.23, 9q34.12, 12q24.31, and 16q22.3-q23.1, and gain of 8q22.3-q23.1 and 21q22.12. The 12q24.31 region was recurrently deleted in 7/16 patients. Real-time PCR investigation for deletion of genes BCL7A, SMAC/DIABLO, and RHOF-three tumor suppressor genes with a putative role in hematological malignancies-demonstrated that they were deleted in 9, 10, and 13 cases, respectively. The identified genomic alterations and individual genes could yield important insights into the early steps of MF pathogenesis.
authors.affiliation: Department of Dermatology, Catholic University of the Sacred Heart, Rome, Italy. gadalas@hotmail.com
authors.forename: Angelo
authors.initials: A
authors.lastname: Carbone
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Francesco
authors.initials: F
authors.lastname: Valenzano
authors.forename: Irene
authors.initials: I
authors.lastname: Bottillo
authors.forename: Clara
authors.initials: C
authors.lastname: De Simone
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Capizzi
authors.forename: Anna
authors.initials: A
authors.lastname: Capalbo
authors.forename: Francesca
authors.initials: F
authors.lastname: Romano
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Amerio
mesh_terms: D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016410:Lymphoma, T-Cell, Cutaneous / Q000235:genetics / Q000473:pathology; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009182:Mycosis Fungoides / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D015513:Oncogene Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D020741:rho GTP-Binding Proteins / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; C098982:BCL7A protein, human; C412403:DIABLO protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008840:Microfilament Proteins; D024101:Mitochondrial Proteins; D015513:Oncogene Proteins; C419867:RHOF protein, human; D020741:rho GTP-Binding Proteins