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Embryonal Tumor: Molecular Characterization

  • Anna Maria Buccoliero
  • Francesca Castiglione
  • Duccio Rossi Degl’Innocenti
  • Daniela Moncini
  • Milena Paglierani
  • Gianna Baroni
  • Antonella Simoni
  • Lorenzo Genitori
  • Gian Luigi Taddei
Chapter
Part of the Tumors of the Central Nervous System book series (TCNS, volume 13)

Abstract

Central Nervous System (CNS) embryonal tumors are malignant neoplasms that share the predilection for the pediatric age, the tendency to early disseminate throughout the CNS via the cerebro spinal fluid, the high mortality and the significant long-term morbidity for survivors.

The pathological diagnose of these tumors on the basis of the morphological analysis may be sometimes difficult, and also not all of these tumors, with an equal stage and treatment, have the same behavior. The application of basic research findings to clinical oncology has led to new approaches to the diagnosis, prognosis, and treatment of these tumors. In this chapter we discuss the molecular biology of the CNS embryonal tumor with particular emphasis on that aspects having clinical impact.

Keywords

Embryonal Tumor Nevoid Basal Cell Carcinoma Syndrome Atypical Teratoid Rhabdoid Tumor Neuroblastic Tumor Rhabdoid Meningioma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Aldosari N, Bigne SH, Burger P, Becker L, Kepner JL, Friedman HS, McLendon RE (2002) MYCC and MYCN oncogene amplification in medulloblastoma. A fluorescence in situ hybridization study on paraffin sections from the Children’s Oncology Group. Arch Pathol Lab Med 126:540–544PubMedGoogle Scholar
  2. Biegel JA, Fogelgren B, Zhou JY, James CD, Janss AJ, Allen JC, Zagzag D, Raffel C, Rorke LB (2000) Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastoma and primitive neuroectodermal tumors of the central nervous system. Clin Cancer Res 6:279–2763Google Scholar
  3. Blach LE, McCormick B, Abramson DH, Ellsworth RM (1994) Trilateral retinoblastoma-incidence and outcome: a decade of experience. Int J Radiat Oncol Biol Phys 429:729–733CrossRefGoogle Scholar
  4. Brown AE, Leibundgut K, Niggli FK, Betts DR (2006) Cytogenetics of pineoblastoma: four new cases and a literature review. Cancer Genet Cytogenet 170:175–179PubMedCrossRefGoogle Scholar
  5. Buccoliero AM, Castiglione F, Degl’Innocenti DR, Franchi A, Paglierani M, Sanzo M, Cetica V, Giunti L, Sardi I, Genitori L, Taddei GL (2010) Embryonal tumor with abundant neuropil and true rosettes: morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation. Neuropathology 1:84–91CrossRefGoogle Scholar
  6. Buccoliero AM, Castiglione F, Degl’Innocenti DR, Franchi A, Sanzo M, Cetica V, Giunti L, Sardi I, Mussa F, Giordano F, Genitori L, Taddei GL (2011) Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study. Neuropathology 31:59–65PubMedCrossRefGoogle Scholar
  7. Eberhart CG (2011) Molecular diagnostics in embryonal brain tumor. Brain Pathol 21:6–104Google Scholar
  8. Eberhart CG, Brat DJ, Cohen KJ, Burger PC (2000) Pediatric neuroblastic brain tumors containing abundant neuropil and true rosettes. Pediatr Dev Pathol 3:346–352PubMedCrossRefGoogle Scholar
  9. Eberhart CG, Kratz J, Wang Y, Summers K, Stearns D, Cohen K, Dang CV, Burger PC (2004) Histopathological and molecular prognostic markers in medulloblastoma: c-myc, N-myc, TrkC, and anaplasia. J Neuropathol Exp Neurol 63:441–449PubMedGoogle Scholar
  10. Ellison DW, Onilude OE, Lindsey JC, Lusher ME, Weston CL, Taylor RE, Pearson AD, Clifford SC, United Kingdom Children’s Cancer Study Group Brain Tumour Committee (2005) Beta-catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children’s Cancer Study Group Brain Tumour Committee. J Clin Oncol 23:7951–7957PubMedCrossRefGoogle Scholar
  11. Ellison DW, Kocak M, Dalton J, Megahed H, Lusher ME, Ryan SL, Zhao W, Nicholson SL, Taylor RE, Bailey S, Clifford SC (2011) Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol 28:1400–1407; Epub ahead of printCrossRefGoogle Scholar
  12. Fattet S, Haberler C, Legoix P, Varlet P, Lellouch-Tubiana A, Lair S, Manie E, Raquin MA, Bours D, Carpentier S, Barillot E, Grill J, Doz F, Puget S, Janoueix-Lerosey I, Delattre O (2009) Beta-catenin status in paediatric medulloblastomas: correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics. J Pathol 218:86–94PubMedCrossRefGoogle Scholar
  13. Gilbertson RJ, Ellison DW (2008) The origins of medulloblastoma subtypes. Annu Rev Pathol 3:241–365Google Scholar
  14. Gulino A, Arcella A, Giangaspero F (2008) Pathological and molecular heterogeneity of medulloblastoma. Curr Opin Ocol 20:668–675CrossRefGoogle Scholar
  15. Hornick JL, Dal Cin P, Fletcher CD (2009) Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 33:542–550PubMedCrossRefGoogle Scholar
  16. Judkins AR, Ellison DW (2010) Ependymoblastoma: dear, damned, distracting diagnosis, farewell! Brain Pathol 20:133–139PubMedCrossRefGoogle Scholar
  17. Korshunov A, Remke M, Gessi M, Ryzhova M, Hielscher T, Witt H, Tobias V, Buccoliero AM, Sardi I, Gardiman MP, Bonnin J, Scheithauer B, Kulozik AE, Witt O, Mork S, von Deimling A, Wiestler OD, Giangaspero F, Rosenblum M, Pietsch T, Lichter P, Pfister SM (2010) Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. Acta Neuropathol 120:253–260PubMedCrossRefGoogle Scholar
  18. Lamont J, McManamy CS, Pearson AD, Clifford SC, Ellison DW (2004) Combined histopathological and molecular cytogenetic stratification of medulloblastoma patients. Clin Cancer Res 10:5482–5493PubMedCrossRefGoogle Scholar
  19. Louis DN, Ohgak IH, Wiestler OD, Cavenee WK (2007a) WHO classification of tumours of the central nervous system. International Agency for Research on Cancer, LyonGoogle Scholar
  20. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P (2007b) The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 114:97–109PubMedCentralPubMedCrossRefGoogle Scholar
  21. Lugli A, Zlobec I, Minoo P, Baker K, Tornillo L, Terracciano L, Jass JR (2007) Prognostic significance of the wnt signaling pathway molecules APC, beta-catenin and E-cadherin in colorectal cancer: a tissue microarray-based analysis. Histopathology 50:453–464PubMedCrossRefGoogle Scholar
  22. Martensson A, Oberg A, Jung A, Cederquist K, Stenling R, Palmqvist R (2007) Beta-catenin expression in relation to genetic instability and prognosis in colorectal cancer. Oncol Rep 17:447–452PubMedGoogle Scholar
  23. McCabe MG, Backlund LM, Leong HS, Ichimura K, Collins VP (2011) Chromosome 17 alterations identify good-risk and poor-risk tumors independently of clinical factors in medulloblastoma. Neuro Oncol 13:376–383PubMedCentralPubMedCrossRefGoogle Scholar
  24. Pfister S, Remke M, Benner A, Mendrzyk F, Toedt G, Felsberg J, Wittmann A, Devens F, Gerber NU, Joos S, Kulozik A, Reifenberger G, Rutkowski S, Wiestler OD, Radlwimmer B, Scheurlen W, Lichter P, Korshunov A (2009) Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci. J Clin Oncol 27:1627–1636PubMedCrossRefGoogle Scholar
  25. Pfister S, Korshunov A, Kool M, Hasselblatt M, Eberhart C, Taylor MD (2010) Molecular diagnostics of CNS embryonal tumors. Acta Neuropathol 120:553–566PubMedCrossRefGoogle Scholar
  26. Raffel C, Jenkins RB, Frederik L, Hebrink D, Alderete B, Fults DW, James CD (1997) Sporadic medulloblastomas contain PTCH mutations. Cancer Res 57:842–845PubMedGoogle Scholar
  27. Rubin JB, Rowitch DH (2002) Medulloblastoma: a problem of developmental biology. Cancer Cell 2:7–8PubMedCrossRefGoogle Scholar
  28. Stearns D, Chaudhry A, Abel TW, Burger PC, Dang CV, Eberhart CG (2006) c-myc overexpression causes anaplasia in medulloblastoma. Cancer Res 66:673–681PubMedCrossRefGoogle Scholar
  29. Takei H, Nguyen Y, Mehta V, Chintagumpala M, Dause RRC, Adesina AM (2009) Low-level copy gain versus amplification of myc oncogenes in medulloblastoma: utility in predicting prognosis and survival. Laboratory investigation. Neurosurg Pediatr 3:61–65CrossRefGoogle Scholar
  30. von Bueren AO, Oehler C, Shalaby T, von Hoff K, Pruschy M, Seifert B, Gerber NU, Warmuth-Metz M, Stearns D, Eberhart CG, Kortmann RD, Rutkowski S, Grotzer MA (2011) c-MYC expression sensitizes medulloblastoma cells to radio- and chemotherapy and has no impact on response in medulloblastoma patients. B M C Cancer 11:74CrossRefGoogle Scholar
  31. Zitterbart K, Filkova H, Tomasikova L, Necesalova E, Zambo I, Kantorova D, Slamova I, Vranova V, Zezulkova D, Pesakova M, Pavelka Z, Veselska R, Kuglik P, Sterba J (2011) Low-level copy number changes of MYC genes have a prognostic impact in medulloblastoma. J Neurooncol 102:25–33Google Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Anna Maria Buccoliero
    • 1
  • Francesca Castiglione
    • 2
  • Duccio Rossi Degl’Innocenti
    • 2
  • Daniela Moncini
    • 2
  • Milena Paglierani
    • 2
  • Gianna Baroni
    • 2
  • Antonella Simoni
    • 2
  • Lorenzo Genitori
    • 3
  • Gian Luigi Taddei
    • 2
  1. 1.Pathology UnitMeyer HospitalFlorenceItaly
  2. 2.Department of BiomedicineCareggi HospitalFlorenceItaly
  3. 3.Neurosurgery UnitMeyer HospitalFlorenceItaly

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