Glioblastoma familiar

Arruda, Walter O.; Clemente, Rogério S.; Ramina, Ricardo; Pedrozo, Ari A.; Pilotto, Rui F.; Pinto Jr., Walter; Bleggi-torres, Luiz F.

doi:10.1590/S0004-282X1995000200025

Abstracts

The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q - / 46, XX, -2, 4p-, 7p-, +15/ 46, XX. Some aspects about genetics of glial neoplasms are discussed.

glioblastoma; chromosomes; cytogenetics; oncogenesis

Os autores descrevem uma família com três membros portadores de glioblastoma. A paciente probanda, uma menina de 7 anos, apresentou metástase pulmonar. A análise cromossômica dos linfócitos periféricos revelou um cariótipo normal (46, XX). Estudo citogenético das células tumorais mostrou várias anormalidades: 46, XX, 7q- / 46, XX, -2,4p-, 7p-, +15 / 46, XX. Alguns aspectos sobre oncogênese e citogenética das neoplasias gliais são discutidos.

glioblastoma; cromossomos; citogenética; oncogênese

Familial glioblastoma

Glioblastoma familiar

Walter O. Arruda^I; Rogério S. Clemente^II; Ricardo Ramina^II; Ari A. Pedrozo^II; Rui F. Pilotto^III; Walter Pinto Jr.^IV; Luiz F. Bleggi-torres^V

^INeuroIogista

^IINeurocirurgião

^IIIGeneticista, Unidade de Genética Médica, Universidade Federal do Paraná

^IVGeneticista, Departamento de Genética Médica, UNICAMP

^VNeuropatologista, Unidade de Ciências Neurológicas, Hospital das Nações, Curitiba

SUMMARY

The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q - / 46, XX, -2, 4p-, 7p-, +15/ 46, XX. Some aspects about genetics of glial neoplasms are discussed.

Key words: glioblastoma, chromosomes, cytogenetics, oncogenesis.

RESUMO

Os autores descrevem uma família com três membros portadores de glioblastoma. A paciente probanda, uma menina de 7 anos, apresentou metástase pulmonar. A análise cromossômica dos linfócitos periféricos revelou um cariótipo normal (46, XX). Estudo citogenético das células tumorais mostrou várias anormalidades: 46, XX, 7q- / 46, XX, -2,4p-, 7p-, +15 / 46, XX. Alguns aspectos sobre oncogênese e citogenética das neoplasias gliais são discutidos.

Palavras-chave:glioblastoma, cromossomos, citogenética, oncogênese.

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Aceite: 24-outubro-1994.

1. Bigner SH, Bjervig R, Laerum OD. DNA content and chromosomal composition of malignant human gliomas. Neurol Clin 1985, 3:769-784.
2. Bigner SH, Mark J, Burger PC, Mahaley MS, Bullard DE Jr , Muhlbaier LH, Bigner DD. Specific chromosomal abnormalities in malignant human gliomas. Cancer 1988, 88:405-411.
3. Cavenee WK, Corable HJ, James CD. Molecular genetics of human cancer predisposition and progression. Mutat Res 1991, 274:199-202.
4. Challa VR, Goodman HO, Davis CH Jr. Familial brain tumors: studies of two families and review of recent literature. Neurosurgery 1983, 12:18-23.
5. Deimling A, Louis DN, Ammon K, Petersen I, Wiestler OD, Seizinger BR. Evidence for a tumor supressor gene on chromosome 19q associated with human astrocytomas, oligodendrogliomas, and mixed gliomas. Cancer Res 1992, 52:4277-4279.
6. Duhaime AC, Bunin G, Sutton L, Rorke LB, Packer RJ. Simultaneous presentation of glioblastoma multiforme in siblings two and five years old: case report. Neurosurgery 1989, 24:434-439.
7. Fults D, Brockmeyer D, Tullous MW, Pedone CA, Cawthon RM. p53mutation and loss of heterozygosity on chromosomes 17 and 10 during human astrocytoma progression. Cancer Res 1992, 52:674-679.
8. Griffin CA, Hawkins AL, Packer RJ, Rorke LB, Emanuel BS. Chromosome abnormalities in pediatric brain tumors. Cancer Res 1988, 48:175-180.
9. Hardman PDJ, Bell J, Whittle IR, Gregor A. Familial glioma: a report of glioblastoma in identical twins and oligo-astrocytoma in siblings. Br J Neurosurg 1989, 3:709-715.
10. James CD, Carlbom E, Dumansky JP, Hansen M, Nordenskjold M, Collins VP, Cavenee WK. Clonal genomic alterations in glioma malignancy stages. Cancer Res 1988, 48:5546-5551.
11. James CD, He J, Carlbom E, Nordenskjold M, Cavenee WK, Collins P. Chromosome 9 deletion mapping reveals interferon alfa and interferon beta-1 gene deletions in human glial tumors. Cancer Res 1991, 51:1684-1688.
12. Kaufman HH, Brisman R. Familial gliomas: report of four cases. J Neurosurg 1972, 37:110-112.
13. Litofsky NS, Hinton D, Raffel C. The lack of a role for p53 in astrocytomas in pediatric patients. Neurosurgery 1994, 34:967-973.
14. Maroun FB, Jacob JC, Heneghan WD, Mangan MA, Russel NA, Ali SK, Murray GP, Clarke A. Familial intracranial gliomas. Surg Neurol 1984, 22:76-77.
15. Ransom DT, Ritland SR, Jenkins RB, Scheithauer B, Kelly PJ, Kimmel DW. Loss of heterozygosity studies in human gliomas. Proc Am Assoc Cancer Res 1991, 32:302.
16. Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York:, Thieme 1990, p99-110.
17. Russell, DS, Rubinstein LJ. Pathology of tumours of the nervous system. Ed. 5. Baltimore: Williams & Wilkins, 1989, p1-57.
18. Salcman M, Solomon L. Occurrence of glioblastoma multiforme in three generations of a cancer family. Neurosurgery 1984, 14:557-561.
19. Schmidek HH. The molecular genetics of nervous system tumors. J Neurosurg 1987, 67:1-16.
20. Shapiro JR. Biology of gliomas: heterogeneity, oncogens, growth factors. Seminars Oncology 1986, 13:4-15.
21. Sindransky D, Mikkelssen T, Schwechheimer K, Rosemblum ML, Cavenee W, Vogelstein B. Clonal expansion of p53 mutant cells is associated with brain tumor progression. Nature 1992, 355:846-847.
22. Westermark B, Nister M, Heldin C-H. Growth factors and oncogenes in human malignant glioma. Neurol Clin 1985, 3:785-799.
23. Whittle IR. Oncogenes and neuro-oncology: review article. Br J Neurosurg 1989, 3:3-12.

Publication Dates

Publication in this collection
20 Jan 2011
Date of issue
June 1995

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Bigner SH, Bjervig R, Laerum OD. DNA content and chromosomal composition of malignant human gliomas. Neurol Clin 1985, 3:769-784.

[2] 2. Bigner SH, Mark J, Burger PC, Mahaley MS, Bullard DE Jr , Muhlbaier LH, Bigner DD. Specific chromosomal abnormalities in malignant human gliomas. Cancer 1988, 88:405-411.

[3] 3. Cavenee WK, Corable HJ, James CD. Molecular genetics of human cancer predisposition and progression. Mutat Res 1991, 274:199-202.

[4] 4. Challa VR, Goodman HO, Davis CH Jr. Familial brain tumors: studies of two families and review of recent literature. Neurosurgery 1983, 12:18-23.

[5] 5. Deimling A, Louis DN, Ammon K, Petersen I, Wiestler OD, Seizinger BR. Evidence for a tumor supressor gene on chromosome 19q associated with human astrocytomas, oligodendrogliomas, and mixed gliomas. Cancer Res 1992, 52:4277-4279.

[6] 6. Duhaime AC, Bunin G, Sutton L, Rorke LB, Packer RJ. Simultaneous presentation of glioblastoma multiforme in siblings two and five years old: case report. Neurosurgery 1989, 24:434-439.

[7] 7. Fults D, Brockmeyer D, Tullous MW, Pedone CA, Cawthon RM. p53mutation and loss of heterozygosity on chromosomes 17 and 10 during human astrocytoma progression. Cancer Res 1992, 52:674-679.

[8] 8. Griffin CA, Hawkins AL, Packer RJ, Rorke LB, Emanuel BS. Chromosome abnormalities in pediatric brain tumors. Cancer Res 1988, 48:175-180.

[9] 9. Hardman PDJ, Bell J, Whittle IR, Gregor A. Familial glioma: a report of glioblastoma in identical twins and oligo-astrocytoma in siblings. Br J Neurosurg 1989, 3:709-715.

[10] 10. James CD, Carlbom E, Dumansky JP, Hansen M, Nordenskjold M, Collins VP, Cavenee WK. Clonal genomic alterations in glioma malignancy stages. Cancer Res 1988, 48:5546-5551.

[11] 11. James CD, He J, Carlbom E, Nordenskjold M, Cavenee WK, Collins P. Chromosome 9 deletion mapping reveals interferon alfa and interferon beta-1 gene deletions in human glial tumors. Cancer Res 1991, 51:1684-1688.

[12] 12. Kaufman HH, Brisman R. Familial gliomas: report of four cases. J Neurosurg 1972, 37:110-112.

[13] 13. Litofsky NS, Hinton D, Raffel C. The lack of a role for p53 in astrocytomas in pediatric patients. Neurosurgery 1994, 34:967-973.

[14] 14. Maroun FB, Jacob JC, Heneghan WD, Mangan MA, Russel NA, Ali SK, Murray GP, Clarke A. Familial intracranial gliomas. Surg Neurol 1984, 22:76-77.

[15] 15. Ransom DT, Ritland SR, Jenkins RB, Scheithauer B, Kelly PJ, Kimmel DW. Loss of heterozygosity studies in human gliomas. Proc Am Assoc Cancer Res 1991, 32:302.

[16] 16. Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York:, Thieme 1990, p99-110.

[17] 17. Russell, DS, Rubinstein LJ. Pathology of tumours of the nervous system. Ed. 5. Baltimore: Williams & Wilkins, 1989, p1-57.

[18] 18. Salcman M, Solomon L. Occurrence of glioblastoma multiforme in three generations of a cancer family. Neurosurgery 1984, 14:557-561.

[19] 19. Schmidek HH. The molecular genetics of nervous system tumors. J Neurosurg 1987, 67:1-16.

[20] 20. Shapiro JR. Biology of gliomas: heterogeneity, oncogens, growth factors. Seminars Oncology 1986, 13:4-15.

[21] 21. Sindransky D, Mikkelssen T, Schwechheimer K, Rosemblum ML, Cavenee W, Vogelstein B. Clonal expansion of p53 mutant cells is associated with brain tumor progression. Nature 1992, 355:846-847.

[22] 22. Westermark B, Nister M, Heldin C-H. Growth factors and oncogenes in human malignant glioma. Neurol Clin 1985, 3:785-799.

[23] 23. Whittle IR. Oncogenes and neuro-oncology: review article. Br J Neurosurg 1989, 3:3-12.

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Glioblastoma familiar

Familial glioblastoma

Abstracts

Publication Dates