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Genomic Characterization of Rare Primary Cardiac Sarcoma Entities

Primary cardiac sarcomas are considered rare malignant entities associated with poor prognosis. In fact, knowledge regarding their gene signature and possible treatments is still limited. In our study, whole-transcriptome sequencing on formalin-fixed paraffin-embedded (FFPE) samples from one cardiac...

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Autores principales: Gozzellino, Livia, Nannini, Margherita, Pizzi, Carmine, Leone, Ornella, Corti, Barbara, Indio, Valentina, Baldovini, Chiara, Paolisso, Pasquale, Foà, Alberto, Pacini, Davide, Folesani, Gianluca, Schipani, Angela, Costa, Alice, Pasquinelli, Gianandrea, Pantaleo, Maria Abbondanza, Astolfi, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858520/
https://www.ncbi.nlm.nih.gov/pubmed/36673024
http://dx.doi.org/10.3390/diagnostics13020214
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author Gozzellino, Livia
Nannini, Margherita
Pizzi, Carmine
Leone, Ornella
Corti, Barbara
Indio, Valentina
Baldovini, Chiara
Paolisso, Pasquale
Foà, Alberto
Pacini, Davide
Folesani, Gianluca
Schipani, Angela
Costa, Alice
Pasquinelli, Gianandrea
Pantaleo, Maria Abbondanza
Astolfi, Annalisa
author_facet Gozzellino, Livia
Nannini, Margherita
Pizzi, Carmine
Leone, Ornella
Corti, Barbara
Indio, Valentina
Baldovini, Chiara
Paolisso, Pasquale
Foà, Alberto
Pacini, Davide
Folesani, Gianluca
Schipani, Angela
Costa, Alice
Pasquinelli, Gianandrea
Pantaleo, Maria Abbondanza
Astolfi, Annalisa
author_sort Gozzellino, Livia
collection PubMed
description Primary cardiac sarcomas are considered rare malignant entities associated with poor prognosis. In fact, knowledge regarding their gene signature and possible treatments is still limited. In our study, whole-transcriptome sequencing on formalin-fixed paraffin-embedded (FFPE) samples from one cardiac osteosarcoma and one cardiac leiomyosarcoma was performed, to investigate their mutational profiles and to highlight differences and/or similarities to other cardiac histotypes. Both cases have been deeply detailed from a pathological point of view. The osteosarcoma sample presented mutations involving ATRX, ERCC5, and COL1A1, while the leiomyosarcoma case showed EXT2, DNM2, and PSIP1 alterations. Altered genes, along with the most differentially expressed genes in the leiomyosarcoma or osteosarcoma sample versus the cardiac angiosarcomas and intimal sarcomas (e.g., YAF2, PAK5, and CRABP1), appeared to be associated with cell growth, proliferation, apoptosis, and the repair of DNA damage, which are key mechanisms involved in tumorigenesis. Moreover, a distinct gene expression profile was detected in the osteosarcoma sample when compared to other cardiac sarcomas. For instance, WIF1, a marker of osteoblastic differentiation, was upregulated in our bone tumor. These findings pave the way for further studies on these entities, in order to identify targeted therapies and, therefore, improve patients’ prognoses.
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spelling pubmed-98585202023-01-21 Genomic Characterization of Rare Primary Cardiac Sarcoma Entities Gozzellino, Livia Nannini, Margherita Pizzi, Carmine Leone, Ornella Corti, Barbara Indio, Valentina Baldovini, Chiara Paolisso, Pasquale Foà, Alberto Pacini, Davide Folesani, Gianluca Schipani, Angela Costa, Alice Pasquinelli, Gianandrea Pantaleo, Maria Abbondanza Astolfi, Annalisa Diagnostics (Basel) Article Primary cardiac sarcomas are considered rare malignant entities associated with poor prognosis. In fact, knowledge regarding their gene signature and possible treatments is still limited. In our study, whole-transcriptome sequencing on formalin-fixed paraffin-embedded (FFPE) samples from one cardiac osteosarcoma and one cardiac leiomyosarcoma was performed, to investigate their mutational profiles and to highlight differences and/or similarities to other cardiac histotypes. Both cases have been deeply detailed from a pathological point of view. The osteosarcoma sample presented mutations involving ATRX, ERCC5, and COL1A1, while the leiomyosarcoma case showed EXT2, DNM2, and PSIP1 alterations. Altered genes, along with the most differentially expressed genes in the leiomyosarcoma or osteosarcoma sample versus the cardiac angiosarcomas and intimal sarcomas (e.g., YAF2, PAK5, and CRABP1), appeared to be associated with cell growth, proliferation, apoptosis, and the repair of DNA damage, which are key mechanisms involved in tumorigenesis. Moreover, a distinct gene expression profile was detected in the osteosarcoma sample when compared to other cardiac sarcomas. For instance, WIF1, a marker of osteoblastic differentiation, was upregulated in our bone tumor. These findings pave the way for further studies on these entities, in order to identify targeted therapies and, therefore, improve patients’ prognoses. MDPI 2023-01-06 /pmc/articles/PMC9858520/ /pubmed/36673024 http://dx.doi.org/10.3390/diagnostics13020214 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Gozzellino, Livia
Nannini, Margherita
Pizzi, Carmine
Leone, Ornella
Corti, Barbara
Indio, Valentina
Baldovini, Chiara
Paolisso, Pasquale
Foà, Alberto
Pacini, Davide
Folesani, Gianluca
Schipani, Angela
Costa, Alice
Pasquinelli, Gianandrea
Pantaleo, Maria Abbondanza
Astolfi, Annalisa
Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title_full Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title_fullStr Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title_full_unstemmed Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title_short Genomic Characterization of Rare Primary Cardiac Sarcoma Entities
title_sort genomic characterization of rare primary cardiac sarcoma entities
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858520/
https://www.ncbi.nlm.nih.gov/pubmed/36673024
http://dx.doi.org/10.3390/diagnostics13020214
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