RESUMO
B-cell leukaemia or lymphoma with a combination of t(8;14)(q24;q32) of Burkitt leukaemia/lymphoma and t(14;18)(q32;q21) of follicular lymphoma may present clinically as de novo acute lymphoblastic leukaemia or transformation of follicular lymphoma to aggressive histology diffuse lymphoma. A number of cell lines have been reported with a complex t(8;14;18) with fusion of MYC, IGH and BCL2 on the same derivative 8 chromosome. The objective of this study was to determine the frequency and chromosomal features of this der(8)t(8;14;18) in a series of acute leukaemias and malignant lymphomas. A database of 1350 leukaemia and lymphoma karyotypes was searched for cases with structural alterations affecting both 8q24 and 18q21. A total of 55 cases were identified, of which eight revealed a complex der(8)t(8;14;18) with an MYC-IGH-BCL2 rearrangement resulting from translocation of BCL2 and MYC with a single disrupted IGH allele. Molecular cytogenetic investigation is essential to identify cases of high-grade leukaemia/lymphoma with concurrent translocations affecting the BCL2 and MYC loci.
Assuntos
Genes bcl-2/genética , Genes myc/genética , Cadeias Pesadas de Imunoglobulinas/genética , Linfoma de Células B/genética , Translocação Genética , Adulto , Idoso , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 8 , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfoma Folicular/genética , Masculino , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células Precursoras/genéticaRESUMO
A spontaneously EBV transformed follicular lymphoma (FL) cell line, Tat-1, was established from the lymph node biopsy specimen of a patient with B cell FL, grade 1 in transformation to high grade disease. Tat-1 cells expressed lymphoid markers and developed tumor masses in immunodeficient mice. Bcl-2, Bcl-X(L), Bax and p53 protein expression was revealed by Western blotting. Flow cytometric analysis confirmed P-gp expression. Cytogenetically, the Tat-1 cell line showed identical chromosomal alterations to that of the initial biopsy specimen, among which the most notable were the t(14;18) typical of FL and additional abnormalities involving chromosomes 1, 8 and 13. Multicolor FISH analysis delineated all abnormalities, including a t(1p;8q), a der(8)(8q24::14q32::18q21) and a der(13)(13q32::8q24::14q32::18q21). Further FISH investigations using a locus-specific probe cocktail containing c-myc, IgH and bcl-2 revealed fusion of these three loci on the derivatives 8 and 13, in addition to the derivative 14 IgH/bcl-2 fusion and an extra copy of c-myc on derivative chromosome 1. These results demonstrate an additional example of the deregulation of bcl-2 and c-myc expression through recombination with a single IgH enhancer region. The unusual molecular features of the Tat-1 cell line render it a unique tool for studies focused on cytogenetic alterations, expression of multidrug resistance phenotype and expression of anti-apoptotic proteins in FL.
Assuntos
Infecções por Vírus Epstein-Barr/patologia , Herpesvirus Humano 4/isolamento & purificação , Linfoma Folicular/patologia , Linfoma não Hodgkin/patologia , Células Tumorais Cultivadas , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/metabolismo , Animais , Biomarcadores Tumorais/análise , Linfoma de Burkitt/genética , Linfoma de Burkitt/patologia , Linfoma de Burkitt/virologia , Transformação Celular Viral , Aberrações Cromossômicas , Coloração Cromossômica , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 18/genética , Proteínas de Ligação a DNA/genética , Progressão da Doença , Doxorrubicina/metabolismo , Resistência a Múltiplos Medicamentos/genética , Resistencia a Medicamentos Antineoplásicos/genética , Evolução Fatal , Feminino , Citometria de Fluxo , Genes Supressores de Tumor , Humanos , Cariotipagem , Linfoma Folicular/genética , Linfoma Folicular/virologia , Linfoma não Hodgkin/genética , Linfoma não Hodgkin/virologia , Masculino , Camundongos , Camundongos Knockout , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Transplante de Neoplasias , Proteínas Nucleares , Oncogenes , Proteínas Proto-Oncogênicas/análise , Proteínas Proto-Oncogênicas c-bcl-2/análise , Translocação Genética , Transplante Heterólogo , Células Tumorais Cultivadas/química , Células Tumorais Cultivadas/ultraestrutura , Proteína Supressora de Tumor p53/análise , Proteína X Associada a bcl-2 , Proteína bcl-XRESUMO
Cytogenetic investigation of a low-grade endometrial stromal sarcoma (ESS) revealed structural rearrangements of chromosomes 3, 6, and 7. The karyotypic findings in the few cases of ESS reported reveal recurrent involvement of both homologues of chromosome 7, with less consistent changes affecting chromosomes 6 and 17. The cytogenetic and histologic features of these uterine stromal tumors require further study.
Assuntos
Aberrações Cromossômicas , Sarcoma/genética , Neoplasias Uterinas/genética , Adulto , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 6 , Cromossomos Humanos Par 7 , Feminino , Humanos , Cariotipagem , Sarcoma/patologia , Neoplasias Uterinas/patologiaRESUMO
OBJECTIVE: To assess the effects of antibiotic treatment of urethritis or cervicitis on the incidence of recurrences of articular symptoms in Reiter's syndrome patients. METHODS: Retrospective evaluation of the medical charts of 109 patients living in Greenland. RESULTS: Thirty-seven percent of the episodes of genitourinary tract inflammation that were not treated or were treated with penicillin were followed by arthritis, compared with 10% of those treated with tetracycline or erythromycin. CONCLUSION: Antibiotics active against Chlamydia trachomatis reduced the risk of postvenereal arthritis in the population studied.