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1.
Braz. j. med. biol. res ; 45(2): 172-178, Feb. 2012. ilus, tab
Article in English | LILACS | ID: lil-614569

ABSTRACT

Loss of Y-chromosome has been correlated with older age in males. Furthermore, current evidence indicates that Y-chromosome loss also occurs in several human tumors, including head and neck carcinomas. However, the association between Y nullisomy and the occurrence of neoplasias in elderly men has not been well established. In the present study, the association between Y-chromosome loss and head and neck carcinomas was evaluated by comparison to cells from peripheral blood lymphocytes and normal mucosa of cancer-free individuals matched for age using dual-color fluorescence in situ hybridization. Twenty-one patients ranging in age from 28 to 68 years were divided into five-year groups for comparison with 16 cancer-free individuals matched for age. The medical records of all patients were examined to obtain clinical and histopathological data. None of the patients had undergone radiotherapy or chemotherapy before surgery. In all groups, the frequency of Y-chromosome loss was higher among patients than among normal reference subjects (P < 0.0001) and was not age-dependent. These data suggest that Y-chromosome loss is a tumor-specific alteration not associated with advanced age in head and neck carcinomas.


Subject(s)
Adult , Aged , Humans , Male , Middle Aged , Chromosome Deletion , Carcinoma, Squamous Cell/genetics , Chromosomes, Human, Y/genetics , Head and Neck Neoplasms/genetics , Age of Onset , Case-Control Studies , In Situ Hybridization, Fluorescence , Karyotype
2.
Braz J Med Biol Res ; 45(2): 172-8, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22249426

ABSTRACT

Loss of Y-chromosome has been correlated with older age in males. Furthermore, current evidence indicates that Y-chromosome loss also occurs in several human tumors, including head and neck carcinomas. However, the association between Y nullisomy and the occurrence of neoplasias in elderly men has not been well established. In the present study, the association between Y-chromosome loss and head and neck carcinomas was evaluated by comparison to cells from peripheral blood lymphocytes and normal mucosa of cancer-free individuals matched for age using dual-color fluorescence in situ hybridization. Twenty-one patients ranging in age from 28 to 68 years were divided into five-year groups for comparison with 16 cancer-free individuals matched for age. The medical records of all patients were examined to obtain clinical and histopathological data. None of the patients had undergone radiotherapy or chemotherapy before surgery. In all groups, the frequency of Y-chromosome loss was higher among patients than among normal reference subjects (P < 0.0001) and was not age-dependent. These data suggest that Y-chromosome loss is a tumor-specific alteration not associated with advanced age in head and neck carcinomas.


Subject(s)
Carcinoma, Squamous Cell/genetics , Chromosome Deletion , Chromosomes, Human, Y/genetics , Head and Neck Neoplasms/genetics , Adult , Age of Onset , Aged , Case-Control Studies , Humans , In Situ Hybridization, Fluorescence , Karyotype , Male , Middle Aged , Squamous Cell Carcinoma of Head and Neck
3.
Proc Natl Acad Sci U S A ; 98(21): 12103-8, 2001 Oct 09.
Article in English | MEDLINE | ID: mdl-11593022

ABSTRACT

Open reading frame expressed sequences tags (ORESTES) differ from conventional ESTs by providing sequence data from the central protein coding portion of transcripts. We generated a total of 696,745 ORESTES sequences from 24 human tissues and used a subset of the data that correspond to a set of 15,095 full-length mRNAs as a means of assessing the efficiency of the strategy and its potential contribution to the definition of the human transcriptome. We estimate that ORESTES sampled over 80% of all highly and moderately expressed, and between 40% and 50% of rarely expressed, human genes. In our most thoroughly sequenced tissue, the breast, the 130,000 ORESTES generated are derived from transcripts from an estimated 70% of all genes expressed in that tissue, with an equally efficient representation of both highly and poorly expressed genes. In this respect, we find that the capacity of the ORESTES strategy both for gene discovery and shotgun transcript sequence generation significantly exceeds that of conventional ESTs. The distribution of ORESTES is such that many human transcripts are now represented by a scaffold of partial sequences distributed along the length of each gene product. The experimental joining of the scaffold components, by reverse transcription-PCR, represents a direct route to transcript finishing that may represent a useful alternative to full-length cDNA cloning.


Subject(s)
Expressed Sequence Tags , Genome, Human , Open Reading Frames , Transcription, Genetic , Humans
4.
Head Neck ; 22(6): 585-90, 2000 Sep.
Article in English | MEDLINE | ID: mdl-10941160

ABSTRACT

BACKGROUND: Loss of heterozygosity (LOH) correlates with inactivated tumor suppressor genes. LOH at chromosome arm 22q has been found in a variety of human neoplasms, suggesting that this region contains a tumor suppressor gene(s) other than NF2 important to tumorigenesis. The aim of this study was to evaluate the presence of LOH on chromosome 22q11.2-13 and determine whether there was a relationship between loss in this genomic region and tumor histologic parameters, anatomic site, and survival in patients with squamous cell carcinoma of the head and neck (HNSCC). METHODS: Fifty matched blood and HNSCC tumor samples taken at the time of surgical treatment were evaluated for LOH by use of four microsatellite markers mapping to 22q11.2-q13. Clinical information was available for all patients. The frequency and distribution of LOH was correlated with clinical (age, sex, use of tobacco and alcohol, site of primary tumor, clinical stage, adjuvant therapy and overall survival) and histologic parameters (histopathologic stage, tumor differentiation). RESULTS: LOH at 22q was found in 19 of 50 (38%) informative tumors. The respective incidence of allelic loss for the patients was as follows: 28% at D22S421, 10% at D22S277, 8% at D22S446, and 4% at D22S280. No statistical differences were apparent with a mean follow-up of 30 months. Laryngeal tumors showed a higher incidence of LOH compared with oral tumors. CONCLUSIONS: These results suggest that the D22S277 locus may be closely linked to a tumor suppressor gene (TSG) and involved in upper aerodigestive tract carcinogenesis. In particular, laryngeal tumors may harbor another putative TSG on 22q11.2-q12.3 that may play a role in aggressive stage III/IV disease.


Subject(s)
Carcinoma, Squamous Cell/genetics , Chromosomes, Human, Pair 22 , Head and Neck Neoplasms/genetics , Loss of Heterozygosity , Adult , Aged , Aged, 80 and over , Carcinoma, Squamous Cell/mortality , Carcinoma, Squamous Cell/pathology , Female , Genes, Tumor Suppressor , Head and Neck Neoplasms/mortality , Head and Neck Neoplasms/pathology , Humans , Male , Microsatellite Repeats , Middle Aged
5.
Cancer Genet Cytogenet ; 119(1): 48-55, 2000 May.
Article in English | MEDLINE | ID: mdl-10812171

ABSTRACT

Comparative genomic hybridization (CGH) was used to identify chromosomal imbalances in 19 samples of squamous cell carcinoma of the head and neck (HNSCC). The chromosome arms most often over-represented were 3q (48%), 8q (42%), and 7p (32%); in many cases, these changes were observed at high copy number. Other commonly over-represented sites were 1q, 2q, 6p, 6q, and 18q. The most frequently under-represented segments were 3p and 22q. Loss of heterozygosity of two polymorphic microsatellite loci from chromosome 22 was observed in two tongue tumors, in agreement with the CGH analysis. Gains of 1q and 2q material were detected in patients exhibiting a clinical history of recurrence and/or metastasis followed by terminal disease. This association suggests that gain of 1q and 2q may be a new marker of head and neck tumors with a refractory clinical response.


Subject(s)
Chromosomes, Human, Pair 3 , Chromosomes, Human, Pair 7 , Chromosomes, Human, Pair 8 , DNA, Neoplasm/genetics , Head and Neck Neoplasms/genetics , Adult , Aged , Chromosome Mapping , Female , Humans , Male , Middle Aged , Nucleic Acid Hybridization
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