RESUMO
Cytogenetic studies from 17 pediatric ependymomas and 1 ependymoblastoma are presented. Eight tumors had abnormal karyotypes. Another 107 published cases of cytogenetic analyses from pediatric and adult ependymomas or ependymoblastomas were reviewed. Of the total 125 tumors, 83 (66%) had abnormal karyotypes, of which 24 had a sole autosomal abnormality. Approximately one third had monosomy 22 (-22) or breakpoint 22q11-13, with a higher incidence in adult (56%) versus pediatric (28%) tumors. Structural abnormalities of chromosomes 1, 6, and 17, and numerical abnormalities of 7, 9, 12, and 20, in particular, are also discussed. Although no primary cytogenetic abnormality is evident, these findings may provide direction for additional investigations regarding the classification of these tumors.
Assuntos
Neoplasias Encefálicas/genética , Fossa Craniana Posterior , Ependimoma/genética , Cariotipagem , Adolescente , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 22 , Progressão da Doença , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias da Medula Espinal/genética , Neoplasias Supratentoriais/genética , TrissomiaAssuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Tumor de Wilms/genética , Aneuploidia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Translocação GenéticaRESUMO
A malignant rhabdoid tumor of the brain from a 19-month-old child was studied. Two related clones, 46,XX,-8,+der(8)t(8;22)(p11;q?12)x2,-22,del(22)(q12q?13) and 46,XX-8,+der(8)t(8;22) (p11;q?12) x2,-22,r(22) were found after chromosome analyses of primary and recurrent tumor, and multiple nude mouse passages of the tumor. Breakpoints were studied using FISH.
Assuntos
Neoplasias Encefálicas/genética , Deleção Cromossômica , Tumor Rabdoide/genética , Translocação Genética , Animais , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 8 , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Camundongos , Camundongos NusRESUMO
Cytogenetic analysis was done on 31 Wilms' tumors, including 2 renal tumors of clear cell sarcoma type, using short term cultures of primary tumors and/or nude mouse passages. Nonrandom secondary chromosome abnormalities, in particular, were noted as evidence of clonal evolution. Apparently normal karyotypes were found in 5 Wilms' tumors, all in patients less than or equal to 22 months old, and in one clear cell sarcoma. Abnormal karyotypes were seen in 25 tumors (80%); 6 were pseudodiploid, 3 were hypodiploid, and 16 (52%) were hyperdiploid, of which 8 had a modal number of 47-49 and 8 had a modal number of 50-55. Nonrandom structural abnormalities involved 1p/1q, 11p, 7p/7q, 16p/16q, 12q, and 17p/17q. Nonrandom numerical abnormalities included +6, +8, and +18. Trisomy 12 was the most common abnormality, structural or numerical, seen in 52% of tumors (81% of the hyperdiploid). In 2 tumors the +12 was the only apparent abnormality; in 1 other tumor an i(12q) was seen, suggesting that +12 may have special significance in the clonal progression of Wilms' tumor. Informative karyotypes of 68 Wilms' tumors from other reports were reviewed and compared to results in this series.
Assuntos
Aberrações Cromossômicas , Neoplasias Renais/genética , Tumor de Wilms/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Cariotipagem , Masculino , TrissomiaRESUMO
Chromosomal analysis of 16 rhabdomyosarcomas was done from four primary tumors and from 12 tumors after nude mouse passage. Seven tumors were alveolar; four of these had t(2;13)(q37;q14) and in two tumors it was the only structural abnormality. The other three alveolar tumors were near tetraploid with marker chromosomes and double minutes. In the nine embryonal tumors studied, one had a normal karyotype, and eight were abnormal. Although the eight tumors had no common structural abnormality, trisomy 2 was present in all.