Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases

Medullomyoblastoma (MMB) is a rare variant of medulloblastoma, a member of the family of central nervous system (CNS) embryonal tumors. The outcome of standard therapy for CNS embryonal tumors is often unpredictable in the setting of MMB. Here, we present the clinical course and treatment of an almost 4‐year‐old girl with MMB that was characterized by MYC amplification, isochromosome 17q and large cell/anaplastic histopathology. Pediatr Blood Cancer 2012;59:561–564. © 2011 Wiley Periodicals, Inc.

[1]  Hendrik Witt,et al.  Medulloblastoma comprises four distinct molecular variants. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[2]  Arie Perry,et al.  Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups , 2011, Acta Neuropathologica.

[3]  W. Hartmann,et al.  Large cell/anaplastic medulloblastoma: Outcome according to myc status, histopathological, and clinical risk factors , 2010, Pediatric blood & cancer.

[4]  Axel Benner,et al.  Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[5]  W. Hartmann,et al.  Prognostic Relevance of Clinical and Biological Risk Factors in Childhood Medulloblastoma: Results of Patients Treated in the Prospective Multicenter Trial HIT'91 , 2007, Clinical Cancer Research.

[6]  T. Merchant,et al.  Risk-adapted craniospinal radiotherapy followed by high-dose chemotherapy and stem-cell rescue in children with newly diagnosed medulloblastoma (St Jude Medulloblastoma-96): long-term results from a prospective, multicentre trial. , 2006, The Lancet. Oncology.

[7]  P. Burger,et al.  Phase III study of craniospinal radiation therapy followed by adjuvant chemotherapy for newly diagnosed average-risk medulloblastoma. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[8]  C. Dang,et al.  c-myc overexpression causes anaplasia in medulloblastoma. , 2006, Cancer research.

[9]  M. Sharma,et al.  Unusually long survival in a case of medullomyoblastoma , 2005, Journal of Clinical Neuroscience.

[10]  C. Fuller,et al.  Medullomyoblastoma: A radiographic and clinicopathologic analysis of six cases and review of the literature , 2004, Cancer.

[11]  D. Ellison,et al.  Combined Histopathological and Molecular Cytogenetic Stratification of Medulloblastoma Patients , 2004, Clinical Cancer Research.

[12]  D. Ellison,et al.  Classifying the medulloblastoma: insights from morphology and molecular genetics , 2002, Neuropathology and applied neurobiology.

[13]  R. McLendon,et al.  MYCC and MYCN oncogene amplification in medulloblastoma. A fluorescence in situ hybridization study on paraffin sections from the Children's Oncology Group. , 2002, Archives of pathology & laboratory medicine.

[14]  P. Burger,et al.  Histopathologic grading of medulloblastomas , 2002, Cancer.

[15]  A. Perry,et al.  Large cell/anaplastic medulloblastomas and medullomyoblastomas: clinicopathological and genetic features. , 2001, Journal of neurosurgery.

[16]  P. Burger,et al.  “Large Cell/Anaplastic” Medulloblastomas: A Pediatric Oncology Group Study , 2000, Journal of neuropathology and experimental neurology.

[17]  J. Biegel,et al.  Prognostic significance of chromosome 17p deletions in childhood primitive neuroectodermal tumors (medulloblastomas) of the central nervous system. , 1997, Clinical cancer research : an official journal of the American Association for Cancer Research.

[18]  G. Basso,et al.  N-MYC and C-MYC Oncogenes Amplification in Medulloblastomas. Evidence of Particularly Aggressive Behavior of a Tumor with C-MYC Amplification , 1991, Tumori.