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Concurrent gain of 17q and the MYC oncogene in a medullomyoblastoma

Lindberg, Eva ; Persson, Annette LU ; Øra, Ingrid LU ; Mertens, Fredrik LU ; Englund, Elisabet LU and Gisselsson Nord, David LU (2007) In Neuropathology 27(6). p.556-560
Abstract
Medullomyoblastoma (MMB) is a rare cerebellar childhood tumor containing both myoblastic and primitive neuroectodermal components. Similar to the scenario in classical medulloblastoma, which contains the primitive neuroectodermal component only, gain of sequences from the long arm of chromosome 17 (17q) and gain of the MYC gene in 8q have been implicated in the pathogenesis of MMB. Because karyotypic analysis has not previously been performed for MMB, the mechanisms behind genomic imbalances in this tumor have remained unknown. Several other central aspects of this tumor, such as histocytogenetic origin, clinical characteristics, tumor behavior and prognosis, also remain unknown. We here report neuropathological and cytogenetic features of... (More)
Medullomyoblastoma (MMB) is a rare cerebellar childhood tumor containing both myoblastic and primitive neuroectodermal components. Similar to the scenario in classical medulloblastoma, which contains the primitive neuroectodermal component only, gain of sequences from the long arm of chromosome 17 (17q) and gain of the MYC gene in 8q have been implicated in the pathogenesis of MMB. Because karyotypic analysis has not previously been performed for MMB, the mechanisms behind genomic imbalances in this tumor have remained unknown. Several other central aspects of this tumor, such as histocytogenetic origin, clinical characteristics, tumor behavior and prognosis, also remain unknown. We here report neuropathological and cytogenetic features of an MMB in a 3-year-old boy. Chromosome banding analysis and multicolor karyotyping revealed a hyperdiploid karyotype including an unbalanced 1; 17 translocation and isochromosome 17q formation, both leading to gain of 17q. There were also two extra copies of chromosome 8, leading to gain of the MYC oncogene, trisomies 5 and 13, and monosomy 9. Clonal chromosome changes were present in both the myoblastic and neuroectodermal components. Our findings support the notion that MMB and classical medulloblastoma arise through similar genetic mechanisms and that the two main tissue components in MMB are clonally related. (Less)
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; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
medullomyoblastoma, isochromosome, cerebellar tumors, cytogenetics, MYC, pediatric tumors, TP53
in
Neuropathology
volume
27
issue
6
pages
556 - 560
publisher
Wiley-Blackwell
external identifiers
  • wos:000250619500007
  • scopus:35748937317
  • pmid:18021376
ISSN
0919-6544
DOI
10.1111/j.1440-1789.2007.00810.x
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Paediatrics (Lund) (013002000), Division of Clinical Genetics (013022003)
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7c33d0ae-29f7-48d0-b3bc-626199327ba3 (old id 653051)
date added to LUP
2016-04-01 12:24:04
date last changed
2020-01-12 09:45:54
@article{7c33d0ae-29f7-48d0-b3bc-626199327ba3,
  abstract     = {Medullomyoblastoma (MMB) is a rare cerebellar childhood tumor containing both myoblastic and primitive neuroectodermal components. Similar to the scenario in classical medulloblastoma, which contains the primitive neuroectodermal component only, gain of sequences from the long arm of chromosome 17 (17q) and gain of the MYC gene in 8q have been implicated in the pathogenesis of MMB. Because karyotypic analysis has not previously been performed for MMB, the mechanisms behind genomic imbalances in this tumor have remained unknown. Several other central aspects of this tumor, such as histocytogenetic origin, clinical characteristics, tumor behavior and prognosis, also remain unknown. We here report neuropathological and cytogenetic features of an MMB in a 3-year-old boy. Chromosome banding analysis and multicolor karyotyping revealed a hyperdiploid karyotype including an unbalanced 1; 17 translocation and isochromosome 17q formation, both leading to gain of 17q. There were also two extra copies of chromosome 8, leading to gain of the MYC oncogene, trisomies 5 and 13, and monosomy 9. Clonal chromosome changes were present in both the myoblastic and neuroectodermal components. Our findings support the notion that MMB and classical medulloblastoma arise through similar genetic mechanisms and that the two main tissue components in MMB are clonally related.},
  author       = {Lindberg, Eva and Persson, Annette and Øra, Ingrid and Mertens, Fredrik and Englund, Elisabet and Gisselsson Nord, David},
  issn         = {0919-6544},
  language     = {eng},
  number       = {6},
  pages        = {556--560},
  publisher    = {Wiley-Blackwell},
  series       = {Neuropathology},
  title        = {Concurrent gain of 17q and the MYC oncogene in a medullomyoblastoma},
  url          = {http://dx.doi.org/10.1111/j.1440-1789.2007.00810.x},
  doi          = {10.1111/j.1440-1789.2007.00810.x},
  volume       = {27},
  year         = {2007},
}