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Malignant transformation of fibrous dysplasia: A case report

Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations of the guanine nucleotide-binding protein α-subunit (GNAS) gene, which encodes the stimulatory α subunit of the G protein (G(s)α) and is located at chromosome 20q13. These m...

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Autores principales: HATANO, HIROSHI, MORITA, TETSURO, ARIIZUMI, TAKASHI, KAWASHIMA, HIROYUKI, OGOSE, AKIRA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063639/
https://www.ncbi.nlm.nih.gov/pubmed/24959281
http://dx.doi.org/10.3892/ol.2014.2082
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author HATANO, HIROSHI
MORITA, TETSURO
ARIIZUMI, TAKASHI
KAWASHIMA, HIROYUKI
OGOSE, AKIRA
author_facet HATANO, HIROSHI
MORITA, TETSURO
ARIIZUMI, TAKASHI
KAWASHIMA, HIROYUKI
OGOSE, AKIRA
author_sort HATANO, HIROSHI
collection PubMed
description Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations of the guanine nucleotide-binding protein α-subunit (GNAS) gene, which encodes the stimulatory α subunit of the G protein (G(s)α) and is located at chromosome 20q13. These mutations are central to the pathogenesis of FD; however, it is not known whether G(s)α mutations are retained following malignant transformation in FD. In addition, to the best of our knowledge, no studies have been performed on chromosomal analysis of secondary osteosarcoma from FD. The present study presents a case of secondary osteosarcoma arising from polyostotic FD in a 72-year-old male. Chromosomal analysis showed 44, X, -Y, add(4)(p11), add(5)(p15), der(11)add(11)(p15)t(1;11)(q21;q23), add(12)(q11), -13, der(22)t(12;22)(q11;p12). Reverse transcription-polymerase chain reaction (RT-PCR) analysis demonstrated the presence of a G(s)α mutation in both the primary tumor cells and secondary osteosarcoma cells. There was no alteration in this mutation in the region of malignant transformation, which suggests that this mutation may be a useful clinical marker for distinguishing de novo osteosarcoma (primary osteosarcoma) from secondary osteosarcoma arising from FD.
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spelling pubmed-40636392014-06-23 Malignant transformation of fibrous dysplasia: A case report HATANO, HIROSHI MORITA, TETSURO ARIIZUMI, TAKASHI KAWASHIMA, HIROYUKI OGOSE, AKIRA Oncol Lett Articles Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations of the guanine nucleotide-binding protein α-subunit (GNAS) gene, which encodes the stimulatory α subunit of the G protein (G(s)α) and is located at chromosome 20q13. These mutations are central to the pathogenesis of FD; however, it is not known whether G(s)α mutations are retained following malignant transformation in FD. In addition, to the best of our knowledge, no studies have been performed on chromosomal analysis of secondary osteosarcoma from FD. The present study presents a case of secondary osteosarcoma arising from polyostotic FD in a 72-year-old male. Chromosomal analysis showed 44, X, -Y, add(4)(p11), add(5)(p15), der(11)add(11)(p15)t(1;11)(q21;q23), add(12)(q11), -13, der(22)t(12;22)(q11;p12). Reverse transcription-polymerase chain reaction (RT-PCR) analysis demonstrated the presence of a G(s)α mutation in both the primary tumor cells and secondary osteosarcoma cells. There was no alteration in this mutation in the region of malignant transformation, which suggests that this mutation may be a useful clinical marker for distinguishing de novo osteosarcoma (primary osteosarcoma) from secondary osteosarcoma arising from FD. D.A. Spandidos 2014-07 2014-04-22 /pmc/articles/PMC4063639/ /pubmed/24959281 http://dx.doi.org/10.3892/ol.2014.2082 Text en Copyright © 2014, Spandidos Publications http://creativecommons.org/licenses/by/3.0 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited.
spellingShingle Articles
HATANO, HIROSHI
MORITA, TETSURO
ARIIZUMI, TAKASHI
KAWASHIMA, HIROYUKI
OGOSE, AKIRA
Malignant transformation of fibrous dysplasia: A case report
title Malignant transformation of fibrous dysplasia: A case report
title_full Malignant transformation of fibrous dysplasia: A case report
title_fullStr Malignant transformation of fibrous dysplasia: A case report
title_full_unstemmed Malignant transformation of fibrous dysplasia: A case report
title_short Malignant transformation of fibrous dysplasia: A case report
title_sort malignant transformation of fibrous dysplasia: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063639/
https://www.ncbi.nlm.nih.gov/pubmed/24959281
http://dx.doi.org/10.3892/ol.2014.2082
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