Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: The dilemma of systematic medical follow-up

Child's Nervous System

Volumn 23, Issue 3, 2007, Pages 343-347

  Distelmaier, Felix ^a   Fahsold, Raimund ^b   Reifenberger, Guido ^c   Messing Juenger, Martina ^c   Schaper, Jörg ^c   Schneider, Dominik T ^c   Göbel, Ulrich ^c   Mayatepek, Ertan ^a   Rosenbaum, Thorsten ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b Gemeinschaftspraxis B Prager and A Junge   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Children; Follow up MRI; Glioblastoma multiforme; Neurofibromatosis type I; Novel NF1 mutation

Indexed keywords

ALANINE; DNA; FRESH FROZEN PLASMA; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMIC ACID; NEUROFIBROMIN; PROTEIN P53; THROMBOCYTE CONCENTRATE; VIMENTIN;

AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BRAIN INFARCTION; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ERYTHROCYTE TRANSFUSION; FACIAL NERVE PARALYSIS; FATALITY; FEMALE; GENETIC ANALYSIS; GLIOBLASTOMA; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INTENSIVE CARE UNIT; MISSENSE MUTATION; NEUROFIBROMATOSIS; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTOPERATIVE CARE; PRIORITY JOURNAL; SCHOOL CHILD; TUMOR VOLUME;

BRAIN NEOPLASMS; CHILD; FATAL OUTCOME; FEMALE; GLIOBLASTOMA; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION, MISSENSE; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PATIENT CARE PLANNING; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33846699544     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00381-006-0222-4     Document Type: Article

References (19)

1. Bajenaru ML, Zhu Y, Hedrick NM, Donahoe J, Parada LF, Gutmann DH (2002) Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. Mol Cell Biol 22:5100-5113
2. Balestri P, Calistri L, Vivarelli R, Bartalini G, Mancini L, Berardi A, Fois A (1993) Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1. Childs Nerv Syst 9:448-451
3. Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, McCluggage C, Plon SE (2004) Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. Am J Med Genet A 127:224-229
4. Dasgupta B, Gutmann DH (2005) Neurofibromin regulates neural stem cell proliferation, survival, and astroglial differentiation in vitro and in vivo. J Neurosci 25:5584-5594
5. Dasgupta B, Li W, Perry A, Gutmann DH (2005) Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. Cancer Res 65:236-245
6. Easton D, Ponder M, Huson S, Ponder B (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 53:305-313
7. Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R (1999) Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. J Med Genet 36:893-896
8. Friedman JM, Gutmann DH, MacCollin M, Riccardi VM (1999) Neurofibromatosis-phenotype, natural history and pathogenesis. The Johns Hopkins University Press, Baltimore, MD
9. Friedrich RE, Kluwe L, Funsterer C, Mautner VF (2005) Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1(NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene. Anticancer Res 25:1699-1702
10. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S (1999) Neurofibromatosis bright objects in children with neurofibromatosis type 1: A proliferative potential? Pediatrics 104:e49
11. Gutmann DH, James CD, Poyhonen M, Louis DN, Ferner R, Guha A, Hariharan S, Viskochil D, Perry A (2003) Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology 61:1397-1400
12. No authors listed (1995) Health supervision for children with neurofibromatosis. American Academy of Pediatrics Committee on Genetics. Pediatrics 96:368-372
13. Korf BR (2000) Malignancy in neurofibromatosis type 1. Oncologist 5:477-485
14. Listernick R, Charrow J, Greenwald M, Mets M (1994) Natural history of optic pathway tumors in children with neurofibromatosis type I: A longitudinal study. J Pediatr 125:63-66
15. Listernick R, Charrow J, Gutmann DH (1999) Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet 89:38-44
16. Menor F, Marti-Bonmati L, Mulas F, Cortina H, Olague R (1991) Imaging considerations of central nervous system manifestations in pediatric patients with neurofibromatosis type 1. Pediatr Radiol 21:389-394
17. Miaux Y, Guermazi A, Cornu P, Mokhtari K, Singer B, Chiras J, Blanchet-Bardon C (1997) High-intensity lesion on T1-weighted MR images in neurofibromatosis type 1: A case of premalignant lesion. Acta Neurochir (Wien) 139:1085-1087
18. Reddy AT, Wellons JC 3rd (2003) Pediatric high-grade gliomas. Cancer J 9:107-112
19. Reilly KM, Loisel DA, Bronson RT, McLaughlin ME, Jacks T (2000) Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Nat Genet 26:109-113