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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/653051
- author
- Lindberg, Eva
; Persson, Annette
LU
; Øra, Ingrid
LU
; Mertens, Fredrik
LU
; Englund, Elisabet
LU
and Gisselsson Nord, David
LU
- organization
- publishing date
- 2007
- 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)
- id
- 7c33d0ae-29f7-48d0-b3bc-626199327ba3 (old id 653051)
- date added to LUP
- 2016-04-01 12:24:04
- date last changed
- 2022-01-27 03:16:20
@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}},
keywords = {{medullomyoblastoma; isochromosome; cerebellar tumors; cytogenetics; MYC; pediatric tumors; TP53}},
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}},
}