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Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature
Alveolar rhabdomyosarcoma (ARMS), a histological subtype of rhabdomyosarcoma (RMS), is characterized by an unfavorable clinical outcome. In most ARMS cases, an indicative chromosomal alteration is identified. The recurrent translocation of FKHR with either PAX3 or PAX7 genes results in the encoding...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874863/ https://www.ncbi.nlm.nih.gov/pubmed/31798921 http://dx.doi.org/10.1093/omcr/omz107 |
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author | Ioannou, Maria Perivoliotis, Konstantinos Zaharos, Nikolaos-Marios Tsanakas, Athanasios Tepetes, Konstantinos Koukoulis, George |
author_facet | Ioannou, Maria Perivoliotis, Konstantinos Zaharos, Nikolaos-Marios Tsanakas, Athanasios Tepetes, Konstantinos Koukoulis, George |
author_sort | Ioannou, Maria |
collection | PubMed |
description | Alveolar rhabdomyosarcoma (ARMS), a histological subtype of rhabdomyosarcoma (RMS), is characterized by an unfavorable clinical outcome. In most ARMS cases, an indicative chromosomal alteration is identified. The recurrent translocation of FKHR with either PAX3 or PAX7 genes results in the encoding of chimeric transcription factors that boost tumorigenesis. Besides structural mutations, the copy number of these genes also contributes to the oncogenic activity. In our case, a 12-year-old female patient was diagnosed with a 4 cm pelvic mass. Histopathological examination indicated an alveolar type of RMS. Subsequent FISH analysis with a dual color break-apart probe identified positive signals of FKHR3 gene break, as well as the rare event of a synchronous aneuploidy and gene deletion of FKHR. Our findings lead to the conclusion that a systematic break-apart probe FKHR FISH analysis in ARMS, confirms the diagnosis and elucidates the full spectrum of genomic alterations of this malignancy. |
format | Online Article Text |
id | pubmed-6874863 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-68748632019-12-03 Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature Ioannou, Maria Perivoliotis, Konstantinos Zaharos, Nikolaos-Marios Tsanakas, Athanasios Tepetes, Konstantinos Koukoulis, George Oxf Med Case Reports Case Report Alveolar rhabdomyosarcoma (ARMS), a histological subtype of rhabdomyosarcoma (RMS), is characterized by an unfavorable clinical outcome. In most ARMS cases, an indicative chromosomal alteration is identified. The recurrent translocation of FKHR with either PAX3 or PAX7 genes results in the encoding of chimeric transcription factors that boost tumorigenesis. Besides structural mutations, the copy number of these genes also contributes to the oncogenic activity. In our case, a 12-year-old female patient was diagnosed with a 4 cm pelvic mass. Histopathological examination indicated an alveolar type of RMS. Subsequent FISH analysis with a dual color break-apart probe identified positive signals of FKHR3 gene break, as well as the rare event of a synchronous aneuploidy and gene deletion of FKHR. Our findings lead to the conclusion that a systematic break-apart probe FKHR FISH analysis in ARMS, confirms the diagnosis and elucidates the full spectrum of genomic alterations of this malignancy. Oxford University Press 2019-11-18 /pmc/articles/PMC6874863/ /pubmed/31798921 http://dx.doi.org/10.1093/omcr/omz107 Text en © The Author(s) 2019. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Case Report Ioannou, Maria Perivoliotis, Konstantinos Zaharos, Nikolaos-Marios Tsanakas, Athanasios Tepetes, Konstantinos Koukoulis, George Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title | Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title_full | Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title_fullStr | Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title_full_unstemmed | Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title_short | Alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
title_sort | alveolar rhabdomyosarcoma with unusual cytogenetic findings: one more case and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874863/ https://www.ncbi.nlm.nih.gov/pubmed/31798921 http://dx.doi.org/10.1093/omcr/omz107 |
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