Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: Report of a secondary anaplastic astrocytoma carrying the IDH1 mutation

Journal of Neuro-Oncology

Volumn 109, Issue 3, 2012, Pages 477-484

  Mascelli, Samantha ^a   Raso, Alessandro ^a   Biassoni, Roberto ^a   Severino, Mariasavina ^a   Sak, Katrin ^b   Joost, Kairit ^b   Milanaccio, Claudia ^a   Barra, Salvina ^c   Grillo Ruggieri, Filippo ^d   Vanni, Irene ^a   Consales, Alessandro ^a   Cama, Armando ^a   Capra, Valeria ^a   Nozza, Paolo ^a   Garrè, Maria Luisa ^a  

^a G GASLINI INSTITUTE   (Italy)

^b Asper Biotech Ltd   (Estonia)

^c UNIVERSITY OF GENOA   (Italy)

^d GALLIERA HOSPITAL   (Italy)

Author keywords

Choroid plexus tumors (CPT); Isocitrate dehydrogenase; Pediatric brain tumor; Pyrosequencing; Secondary anaplastic astrocytoma

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2;

ADOLESCENT; ADULT; ARTICLE; BRAIN TUMOR; CHILD; CHILDHOOD CANCER; CHOROID PLEXUS TUMOR; CODON; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; CONTROLLED STUDY; CRANIOPHARYNGIOMA; DETERIORATION; FEMALE; FOLLOW UP; FRONTAL LOBE; GENE MUTATION; GLIOBLASTOMA; GLIOMA; GRAND MAL SEIZURE; HEADACHE; HEMIANOPIA; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; METASTASIS; MUTATIONAL ANALYSIS; NADP DEPENDENT ISOCITRATE DEHYDROGENASE 1 GENE; NADP DEPENDENT ISOCITRATE DEHYDROGENASE 2 GENE; NEUROIMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PYROSEQUENCING; RADIATION FIELD; RADIATION INDUCED NEOPLASM; RETROSPECTIVE STUDY; RHABDOID TUMOR; SCHOOL CHILD; TERATOMA; VISUAL DISORDER; WHITE MATTER;

ADOLESCENT; ASTROCYTOMA; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; ISOCITRATE DEHYDROGENASE; MALE; MUTATION; NEOPLASMS, RADIATION-INDUCED; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84866031911     PISSN: 0167594X     EISSN: 15737373     Source Type: Journal    
DOI: 10.1007/s11060-012-0925-1     Document Type: Article

References (30)

1. Kaatsch P (2010) Epidemiology of childhood cancer. Cancer Treat Rev 36(4):277-285
2. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds) (2007) WHO Classification of tumours of the central nervous system. IARC, Lyon
3. Paugh BS, Qu C, Jones C, Liu Z, Adamowicz-Brice M, Zhang J, Bax DA, Coyle B, Barrow J, Hargrave D, Lowe J, Gajjar A, Zhao W, Broniscer A, Ellison DW, Grundy RG, Baker SJ (2010) Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease. J Clin Oncol 28:3061-3068
4. Pfister S, Hartmann C, Korshunov A (2009) Histology and molecular pathology of pediatric brain tumors. J Child Neurol 24(11):1375-1386
5. Bax DA, Mackay A, Little SE, Carvalho D, Viana-Pereira M, Tamber N, Grigoriadis AE, Ashworth A, Reis RM, Ellison DW, Al-Sarraj S, Hargrave D, Jones C (2010) A distinct spectrum of copy number aberrations in pediatric high-grade gliomas. Clin Cancer Res 16(13):3368-3377
6. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:765-773
7. Hartmann C, Meyer J, Balss J, Capper D, Mueller W, Christians A, Felsberg J, Wolter M, Mawrin C, Wick W, Weller M, Herold-Mende C, Unterberg A, Jeuken JW, Wesseling P, Reifenberger G, von Deimling A (2010) Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1, 010 diffuse gliomas. Acta Neuropathol 118:469-474
8. Antonelli M, Buttarelli FR, Arcella A, Nobusawa S, Donofrio V, Oghaki H, Giangaspero F (2010) Prognostic significance of histological grading, p53 status, YKL-40 expression, and IDH1 mutations in pediatric high-grade gliomas. J Neurooncol 99:209-215
9. Miwa T, Hirose Y, Sasaki H, Ezaki T, Yoshida K, Kawase T (2011) Single-copy gain of chromosome 1q is a negative prognostic marker in pediatric nonependymal, nonpilocytic gliomas. Neurosurgery 68(1):206-212
10. Bleeker FE, Lamba S, Leenstra S, Troost D, Hulsebos T, Vandertop WP, Frattini M, Molinari F, Knowles M, Cerrato A, Rodolfo M, Scarpa A, Felicioni L, Buttitta F, Malatesta S, Marchetti A, Bardelli A (2009) IDH1 mutations at residue p. R132(IDH1 (R132)) occur frequently in high-grade gliomas but not in other solid tumors. Hum Mutat 30 (1):7-11
11. Korshunov A, Meyer J, Capper D, Christians A, Remke M, Witt H, Pfister S, von Deimling A, Hartmann C (2009) Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 118(3):401-405
12. Balss J, Meyer J, Mueller W, Korshunov A, Hartmann C, von Deimling A (2008) Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 116:597-602
13. Ichimura K, Pearson DM, Kocialkowski S, Bäcklund LM, Chan R, Jones DT, Collins VP (2009) IDH1 mutations are present in the majority of common adult gliomas but are rare in primary glioblastomas. Neuro Oncol 11:341-347
14. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807-1812
15. De Carli E, Wang X, Puget S (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:2248
16. Dubbink HJ, Taal W, van Marion R, Kros JM, van Heuvel I, Bromberg JE, Zonnenberg BA, Zonnenberg CB, Postma TJ, Gijtenbeek JM, Boogerd W, Groenendijk FH, Smitt PA, Dinjens WN, van den Bent MJ (2009) IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. Neurology 73:1792-1795
17. Reitman ZJ, Yan H (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:2248
18. Sanson M, Marie Y, Paris S, Idbaih A, Laffaire J, Ducray F, El Hallani S, Boisselier B, Mokhtari K, Hoang-Xuan K, Delattre JY (2009) Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol 27:4150-4154
19. Kloosterhof NK, Bralten LB, Dubbink HJ, French PJ, van den Bent MJ (2011) Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma? Lancet Oncol 12(1):83-91
20. Pollack IF, Hamilton RL, Sobol RW, Nikiforova MN, Lyons-Weiler MA, Laframboise WA, Burger PC, Brat DJ, Rosenblum MK, Holmes EJ, Zhou T, Jakacki RI, Children's Oncology Group (2011) IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group. Childs Nerv Syst 27(1):87-94
21. Watanabe T, Nobusawa S, Kleihues P, Ohgaki H (2009) IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 174:1149-1153
22. Yan H, Bigner DD, Velculescu V, Parsons DW (2009) Mutant metabolic enzymes are at the origin of gliomas. Cancer Res 69:9157-9159
23. Birner P, Toumangelova-Uzeir K, Natchev S, Guentchev M (2011) Expression of mutated isocitrate dehydrogenase-1 in gliomas is associated with p53 and EGFR expression. Folia Neuropathol 49(2):88-93
24. Setty P, Hammes J, Rothämel T, Vladimirova V, Kramm CM, Pietsch T, Waha A (2010) A pyrosequencing-based assay for the rapid detection of IDH1 mutations in clinical samples. J Mol Diagn 12(6):750-756
25. Buccoliero AM, Castiglione F, Rossi Degl'innocenti D, Gheri CF, Genitori L, Taddei GL (2012) IDH1 mutation in pediatric gliomas: has it a diagnostic and prognostic value?. Fetal Pediatr Pathol (Epub ahead of print)
26. Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A (2000) Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 4:1-7 (Pubitemid 30217734)
27. Kranzinger M, Jones N, Rittinger O, Pilz P, Piotrowski WP, Manzl M, Galvan G, Kogelnik HD (2001) Malignant glioma as a secondary malignant neoplasm after radiation therapy for craniopharyngioma: report of a case and review of reported cases. Onkologie 24(1):66-72 (Pubitemid 32245393)
28. Felsberg J, Wolter M, Seul M, Friedensdorf B, Göppert M, Sabel MC, Reifenberger G (2010) Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. Acta Neuropathol 119:501-507
29. Shimizu H, Fujiwara K, Kobayashi S, Kitahara M (1994) A case of paraventricular anaplastic astrocytoma following radiation therapy for craniopharyngioma. No Shinkei Geka 22(4):357-362 (Pubitemid 24135116)
30. Brat DJ, James CD, Jedlicka AE, Connolly DC, Chang E, Castellani RJ, Schmid M, Schiller M, Carson DA, Burger PC (1999) Molecular genetic alterations in radiation-induced astrocytomas. Am J Pathol 154(5):1431-1438 (Pubitemid 29226438)