Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome

Medical and Pediatric Oncology

Volumn 41, Issue 1, 2003, Pages 44-48

  Distel, Luitpold ^a,d   Neubauer, Susann ^a,b   Varon, Raymonda ^c   Holter, Wolfgang ^d   Grabenbauer, Gerhard ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Gynäkologen Medizinische Genetik   (Germany)

^c HUMBOLDT UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Chromosomal instability; Clonogenic assay; NBS; Nijmegen breakage syndrome; Radiosensitivity; Toxicity

Indexed keywords

ARTICLE; CANCER CHEMOTHERAPY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHROMOSOME ABERRATION; CLONOGENIC ASSAY; DISEASE PREDISPOSITION; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; LYMPHOBLASTOID CELL; MALE; MEDULLOBLASTOMA; NIJMEGEN BREAKAGE SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOSENSITIVITY; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST; TOXICITY; WESTERN BLOTTING; CEREBELLUM TUMOR; CHILD; CHROMOSOME BREAKAGE; FATALITY; GENETICS; MULTIPLE MALFORMATION SYNDROME; SUDDEN DEATH; SYNDROME;

ANTINEOPLASTIC AGENT; CELL CYCLE PROTEIN; CISPLATIN; CYTARABINE; ETOPOSIDE; IFOSFAMIDE; METHOTREXATE; NBS1 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ABNORMALITIES, MULTIPLE; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BLOTTING, WESTERN; CELL CYCLE PROTEINS; CHILD; CHROMOSOME BREAKAGE; CISPLATIN; CYTARABINE; DEATH, SUDDEN, CARDIAC; ETOPOSIDE; FATAL OUTCOME; HUMANS; IFOSFAMIDE; INFRATENTORIAL NEOPLASMS; MALE; MEDULLOBLASTOMA; METHOTREXATE; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 0038748216     PISSN: 00981532     EISSN: None     Source Type: Journal    
DOI: 10.1002/mpo.10275     Document Type: Article

References (19)

1. Hjalmars U, Kulldorff M, Wahlqvist Y, et al. Increased incidence rates but no space-time clustering of childhood astrocytoma in Sweden, 1973-1992: A population-based study of pediatric brain tumors. Cancer 1999;85:2077-2090.
2. Bunin G. What causes childhood brain tumors? Limited knowledge, many clues. Pediatr Neurosurg 2000;32:321-326.
3. Kortmann RD, Kuhl J, Timmermann B, et al. Postoperative neoadjuvant chemotherapy before radiotherapy as compared to immediate radiotherapy followed by maintenance chemotherapy in the treatment of medulloblastoma in childhood: Results of the German prospective randomized trial HIT'91. Int J Radiat Oncol Biol Phys 2000;46:269-279.
4. Grovas AC, Boyett JM, Lindsley K, et al. Regimen-related toxicity of myeloablative chemotherapy with BCNU, thiotepa, and etoposide followed by autologous stem cell rescue for children with newly diagnosed glioblastoma multiforme: Report from the Children's Cancer Group. Med Pediatr Oncol 1999;33:83-87.
5. Kuhl J, Muller HL, Berthold F, et al. Preradiation chemotherapy of children and young adults with malignant brain tumors: Results of the German pilot trial HIT 88/89. Klin Padiatr 1998;210:227-233.
6. Packer RJ, Gold wein J, Nicholson HS, et al. Treatment of children with medulloblastomas with reduced-dose craniospinal radiation therapy and adjuvant chemotherapy: A Children's Cancer Group Study. J Clin Oncol 1999;17:2127-2136.
7. Hart RM, Kimler BF, Evans RG, et al. Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys 1987;13:1237-1240.
8. Grabenbauer GG, Beck JD, Erhardt J, et al. Postoperative radiotherapy of medulloblastoma. Impact of radiation quality on treatment outcome. Am J Clin Oncol 1996;19:73-77.
9. Neubauer S, Gebhart E, Schmitt G, et al. Is chromosome in situ suppression (CISS) hybridization suited as a predictive test for intrinsic radiosensitivity in cancer patients? Int J Oncol 1996;8:707-712.
10. Neubauer S, Arutyunyan R, Stumm M, et al. Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat Res 2002;157:312-321.
11. Neubauer S. Detection of radiosensitivity by means of three clor FISH. In: Rautenstrauss B, Liehr T, editors. FISH-technologie, springer lab manual. Heidelberg: Springer-Verlag, Berlin Heidelberg; 2002.
12. Piasecka A, Distel LV, Schuessler H. Analysis of radiation- and 5-FU-induced inhibition of cell proliferation by an automatic colony analyser. Int J Radiat Biol 1998;74:139-144.
13. Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998;93:467-476.
14. Kuechler A, Neubauer S, Grabenbauer GG, et al. Is 24-color FISH detection of in-vitro radiation-induced chromosomal aberrations suited to determine individual intrinsic radiosensitivity? Strahlenther Onkol 2002;178:209-215.
15. The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 2000;82:400-406.
16. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, et al. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome. Am J Med Genet 1995;57:462-471.
17. Varon R, Seemanova E, Chrzanowska K, et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 2000;8:900-902.
18. Kraakman-van der Zwet M, Overkamp WJ, Friedl AA, et al. Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts. Mutat Res 1999;434:17-27.
19. Scott D. Chromosomal radiosensitivity, cancer predisposition and response to radiotherapy. Strahlenther Onkol 2000;176:229-234.