Large cell medulloblastoma with myogenic and melanotic differentiation: a case report with molecular analysis |
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| Authors: | Alexandros D Polydorides Arie Perry Mark A Edgar |
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| Institution: | (1) Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY, USA;(2) Department of Pathology, University of Michigan Hospitals, 1500 E. Medical Center Drive, 2G332, Ann Arbor, MI 48109-0054, USA;(3) Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA;(4) Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA |
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| Abstract: | We present a case of large cell medulloblastoma with myogenic and melanotic differentiation arising in the cerebellar vermis
of a 2-year-old boy and following an aggressive clinical course. Histologic and immunohistochemical features of this tumor
include primitive neuronal, rhabdomyoblastic, and pigmented epithelial elements, along with large cell features. Immunohistochemical
and molecular data (c-myc gene amplification and the presence of isochromosome 17q) support the contention that this histologically diverse tumor represents
a pattern of medulloblastoma with striated muscle and pigmented epithelial differentiation, rather than a teratoma or a cerebellar
variant of melanotic neuroectodermal tumor of infancy (‘progonoma’). |
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| Keywords: | Large cell Anaplastic Medulloblastoma Medullomyoblastoma Myogenic Melanotic Differentiation Pigmented c-myc Isochromosome 17q i17q Molecular |
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