Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: Prevalence on MRI in relation to gene mutation

Child's Nervous System

Volumn 29, Issue 2, 2013, Pages 249-254

  Michelozzi, Caterina ^a   Di Leo, Giovanni ^b   Galli, Federica ^c   Silva Barbosa, Fabiane ^a   Labriola, Francesca ^c   Sardanelli, Francesco ^a,b   Cornalba, Gianpaolo ^a,c  

^a UNIVERSITY OF MILAN   (Italy)

^b IRCCS POLICLINICO SAN DONATO   (Italy)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

Gene mutation; Magnetic resonance imaging; Subependymal giant cell tumour; Subependymal nodule; Tuberous sclerosis complex

Indexed keywords

GADOBUTROL; PEPTIDES AND PROTEINS; TSC1 PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BILATERAL CANCER; BRAIN INTERVENTRICULAR FORAMEN; CANCER GROWTH; CANCER RECURRENCE; CHILD; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SUBEPENDYMAL GIANT CELL ASTROCYTOMA;

EID: 84878502738     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-012-1892-8     Document Type: Article

References (26)

1. Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E (2010) Brain lesions in tuberous sclerosis complex. Review. Folia Neuropathol 48:139-149
2. Hirose T, Scheithauer BW, Lopes MB, Gerber HA, Altermatt HJ, Hukee MJ et al (1995) Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. Acta Neuropathol 90:387-399
3. Scheithauer BW (1992) The neuropathology of tuberous sclerosis. J Dermatol 19:897-903
4. O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (1998) Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 351:1490
5. Crino PB (2004) Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol 19:716-725
6. Jozwiak J, Jozwiak S, Wlodarski P (2008) Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 9:73-79
7. Kaczorowska M, Jurkiewicz E, Domańska-Pakieła D, Syczewska M, Lojszczyk B, Chmielewski D et al (2011) Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia 52:22-27
8. Moavero R, Pinci M, Bombardieri R, Curatolo P (2011) The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. Childs Nerv Syst 27:1203-1210
9. Houser OW, Gomez MR (1992) CT and MR imaging of intracranial tuberous sclerosis. J Dermatol 19:904-908
10. Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345-1356
11. Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL (2003) Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst 19:232-243
12. Bollo RJ, Berliner JL, Fischer I, Miles DK, Thiele EA, Zagzag D et al (2009) Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex. J Neurosurg Pediatr 4:85-90
13. Shepherd CW, Gomez MR, Lie JT, Crowson CS (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792-796
14. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64-80
15. Fujiwara S, Takaki T, Hikita T, Nishio S (1989) Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? Childs Nerv Syst 5:43-44
16. Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457-1461
17. Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA (1991) Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurgery 28:864-868
18. Torres VE, King BF, McKusick MA, Delalande O, Dulac O, Chiron C (2001) Update on tuberous sclerosis complex. Contrib Nephrol 136:33-49
19. Nabbout R, Santos M, Rolland Y, Delalande O, Dulac O, Chiron C (1999) Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J Neurol Neurosurg Psychiatr 66:370-375
20. de Ribaupierre S, Dorfmüller G, Bulteau C, Fohlen M, Pinard J-M, Chiron C et al (2007) Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery 60:83-89
21. Adriaensen MEAPM, Schaefer-Prokop CM, Stijnen T, Duyndam DAC, Zonnenberg BA, Prokop M (2009) Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. Eur J Neurol 16:691-696
22. O'Callaghan FJK, Martyn CN, Renowden S, Noakes M, Presdee D, Osborne JP (2008) Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study. Arch Dis Child 93:751-754
23. Koeller KK, Sandberg GD (2002) From the archives of the AFIP. Cerebral intraventricular neoplasms: radiologic-pathologic correlation. Radiographics 22:1473-1505
24. Sardanelli F, Di Leo G (2009) Biostatistics for radiologists: planning, performing, and writing a radiologic study. Springer, Milan
25. Hyman MH, Whittemore VH (2000) National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol 57:662-665
26. Clarke MJ, Foy AB, Wetjen N, Raffel C (2006) Imaging characteristics and growth of subependymal giant cell astrocytomas. Neurosurg Focus 20:E5