Ataxia-telangiectasia with hyper-IgM and wilms tumor: Fatal reaction to irradiation

Journal of Pediatric Hematology/Oncology

Volumn 32, Issue 1, 2010, Pages e28-e30

  Pietrucha, Barbara Maria ^a   Heropolitańska Pliszka, Edyta ^a   Wakulińska, Anna ^a   Skopczyńska, Hanna ^a   Gatti, Richard A ^b   Bernatowska, Ewa ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ataxia telangiectasia; Hyper IgM; Radiotherapy; Wilms tumor

Indexed keywords

DACTINOMYCIN; IMMUNOGLOBULIN; VINCRISTINE;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHRONIC HEPATITIS; FEMALE; HUMAN; HUMAN TISSUE; HYPER IGM SYNDROME; IRRADIATION; LIVER BIOPSY; NEPHROBLASTOMA; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; TUMOR BIOPSY;

ATAXIA TELANGIECTASIA; CEREBELLAR ATAXIA; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; RADIOTHERAPY; WILMS TUMOR;

EID: 75649153289     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181bfd3d9     Document Type: Article

References (19)

1. Gatti RA. Ataxia-telangiectasia. In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Human Cancers. New York: McGraw-Hill; 1998: 275-300.
2. Lange E, Borresen AL, Chen X, et al. Localization of an ataxia-telangiectasia gene to approximately 500-kb interval on chromosome 11q23: linkage analysis of 176 families by an international consortium. Am J Hum Genet. 1995;57: 112-119.
3. Savitsky K, Sfez S, Tagle DA, et al. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet. 1995;4: 2025-2032.
4. Regueiro JR, Porras O, Lavin M, et al. Ataxia-telangiectasia. A primary immunodeficiency revisited. Immunol Allergy Clinic N Am. 2000;20: 177-206.
5. Chun HH, Sun X, Nahas SA, et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lisates for ATM protein expression and PI-3 kinase activity. Mol Genet Metab. 2003;80: 437-443.
6. Weirich A, Ludwig R, Graf N, et al. A Survival in nephroblastoma treated according to the trial and study SIOP-9/GPOH with respect to relapse and morbidity. Ann Oncol. 2004;15: 808-820.
7. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neur. 2003;10: 173-182.
8. Lavin MF, Concannon P, Gatti RA. Eight international workshop on ataxia-telangiectasia (ATW8). Cancer Res. 1999;59: 3845-3849.
9. Sanal O, Ersoy F, Tezcan I, et al. Ataxia-telangiectasia presenting as hyper IgM syndrome. In: Chapel HM, Levinsky RJ, Webster ADB, eds. Progress in Immune Deficiency III. London: Royal Society of Medicine; 1991: 303-304.
10. Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics. 1998;102: 98-100.
11. Gatti RA. Ataxia-telangiectasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: Mc Graw-Hill; 2001: 705-725.
12. Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med. 2000;133: 770-778.
13. Vujanic GM, Sandstedt B, Harms D, et al. Revised international society of paediatric oncology (SIOP) working classification of renal tumors of childhood. Med Pediatr Oncol. 2002;38: 79-82.
14. Vujanic GM, Charles AK. Renal tumours of childhood: an update. Pathology. 2008;40: 217-227.
15. Vujanić GM, Harms D, Sandstedt B, et al. New definitions of focal and diffuse anaplasia in Wilms tumor: the International Society of Paediatric Oncology (SIOP) experience. Med Pediatr Oncol. 1999;32: 317-323.
16. O’Donoghue J. Relevance of external beam dose-response relationships to kidney toxicity associated with radionuclide therapy. Cancer Biother Radiopharm. 2004;19: 378-387.
17. Paulino AC, Wen BC, Brown CK, et al. Late effects in children treated with radiation therapy for Wilms’ tumor. Int J Radiat Oncol Biol Phys. 2000;46: 1239-1246.
18. Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat. 1997;10: 100-107.
19. Mitui M, Bernatowska E, Pietrucha B, et al. ATM gene founder haplotypes and associated mutations in polish families with ataxia-telangiectasia. Ann Hum Genet. 2005;69: 657-664.