Medulloblastoma with adverse reaction to radiation therapy in Nijmegen breakage syndrome

Journal of Pediatric Hematology/Oncology

Volumn 25, Issue 3, 2003, Pages 248-251

  Bakhshi, Sameer ^a   Cerosaletti, Karen M ^d,e   Concannon, Patrick ^d,e   Bawle, Erawati V ^a   Fontanesi, James ^b   Gatti, Richard A ^c   Bhambhani, Kanta ^a  

^a CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^b KARMANOS CANCER INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d BENAROYA RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosomal breakage syndrome; Medulloblastoma; Nijmegen breakage syndrome; Radiation sensitivity

Indexed keywords

VINCRISTINE;

ARTICLE; CANCER RADIOTHERAPY; CANCER SURGERY; CASE REPORT; CELL ASSAY; CELL CULTURE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; DEVELOPMENTAL DISORDER; ESOPHAGITIS; EXON; FACE MALFORMATION; GASTRITIS; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPHOCYTE CULTURE; MALE; MEDULLOBLASTOMA; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIATION DERMATITIS; RADIOSENSITIVITY; TREATMENT FAILURE; TREATMENT INDICATION;

CEREBELLAR NEOPLASMS; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; FACE; GROWTH DISORDERS; HUMANS; MALE; MEDULLOBLASTOMA; MENTAL RETARDATION; RADIOTHERAPY;

EID: 0037337734     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-200303000-00013     Document Type: Article

References (15)

1. Weemaes CM, Hustinx TW, Scheres JM, et al. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 1981;70: 557-64.
2. Taalman RD, Hustinx TW, Weemaes CM, et al. Further delineation of the Nijmegen breakage syndrome. Am J Med Genet 1989;32:425-31.
3. Huo YK, Wang Z, Hong JH, et al. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia and related syndromes. Cancer Res 1994;54: 2544-7.
4. Sun X, Becker-Catania SG, Chun HH, et al. Early diagnosis of ataxia telangiectasia using radiosensitivity testing. J Pediatr 2002;140:724-31.
5. Der Kaloustian VM, Kleijer W, Booth A, et al. Possible new variant of Nijmegen breakage syndrome. Am J Med Genet 1996;65:21-6.
6. Hiel JA, Weemaes CM, van den Heuvel LP, et al. The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 2000;82:400-6.
7. Weemaes C. Malignancy in Nijmegen breakage syndrome. International Workshop on NBS. Prague, Czech Republic, April 25-28, 2002.
8. Chrzanowska KH. Polish NBS Registry. International Workshop on NBS. Prague, Czech Republic, April 25-28, 2002.
9. Seemanova E. Clinical prognosis of NBS patients, 15 years ago and today. International Workshop on NBS. Prague, Czech Republic, April 25-28, 2002.
10. Cerosaletti KM, Lange E, Stringham HM, et al. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplo-type. Am J Hum Genet 1998;63:125-34.
11. Saar K, Chrzanowska KH, Stumm M, et al. The gene for the ataxiatelangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet 1997;60:605-10.
12. 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: 467-76.
13. Nelms BE, Maser RS, MacKay JF, et al. In situ visualization of DNA doublestrand break repair in human fibroblasts. Science 1998;280:590-2.
14. Carney JP, Maser RS, Olivares H, et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998;93:477-86.
15. Desai-Mehta A, Cerosaletti KM, Concannon P. Distinct functional domains of nibrin mediate Mre11 binding, focus formation and nuclear localization. Mol Cell Biol 2001;21:2184-91.