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Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature

Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enl...

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Autores principales: Pavone, Giuliana, Romano, Chiara, Martorana, Federica, Motta, Lucia, Salvatorelli, Lucia, Zanghì, Antonio Maria, Magro, Gaetano, Vigneri, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498211/
https://www.ncbi.nlm.nih.gov/pubmed/36140560
http://dx.doi.org/10.3390/diagnostics12092160
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author Pavone, Giuliana
Romano, Chiara
Martorana, Federica
Motta, Lucia
Salvatorelli, Lucia
Zanghì, Antonio Maria
Magro, Gaetano
Vigneri, Paolo
author_facet Pavone, Giuliana
Romano, Chiara
Martorana, Federica
Motta, Lucia
Salvatorelli, Lucia
Zanghì, Antonio Maria
Magro, Gaetano
Vigneri, Paolo
author_sort Pavone, Giuliana
collection PubMed
description Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enlarging mass underwent surgical resection, and a diagnosis of well-differentiated liposarcoma (lipoma-like subtype) was made. Post-operative treatments were not indicated, and the patient remains relapse free. Next generation sequencing performed on the neoplastic tissue showed co-amplification of MDM2 and CDK4. These alterations are molecular hallmarks of well-differentiated liposarcomas and corroborate the histological diagnosis. Clinical and molecular features of the presented case are in line with the majority of previously published experiences. In conclusion, the presence of a liposarcoma should be taken into account during the diagnostic workup of scrotal masses, in order to minimize the rate of misdiagnosis and improper management. Molecular analysis may support histological characterization of these rare entities and potentially disclose novel therapeutic targets.
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spelling pubmed-94982112022-09-23 Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature Pavone, Giuliana Romano, Chiara Martorana, Federica Motta, Lucia Salvatorelli, Lucia Zanghì, Antonio Maria Magro, Gaetano Vigneri, Paolo Diagnostics (Basel) Interesting Images Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enlarging mass underwent surgical resection, and a diagnosis of well-differentiated liposarcoma (lipoma-like subtype) was made. Post-operative treatments were not indicated, and the patient remains relapse free. Next generation sequencing performed on the neoplastic tissue showed co-amplification of MDM2 and CDK4. These alterations are molecular hallmarks of well-differentiated liposarcomas and corroborate the histological diagnosis. Clinical and molecular features of the presented case are in line with the majority of previously published experiences. In conclusion, the presence of a liposarcoma should be taken into account during the diagnostic workup of scrotal masses, in order to minimize the rate of misdiagnosis and improper management. Molecular analysis may support histological characterization of these rare entities and potentially disclose novel therapeutic targets. MDPI 2022-09-06 /pmc/articles/PMC9498211/ /pubmed/36140560 http://dx.doi.org/10.3390/diagnostics12092160 Text en © 2022 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 Interesting Images
Pavone, Giuliana
Romano, Chiara
Martorana, Federica
Motta, Lucia
Salvatorelli, Lucia
Zanghì, Antonio Maria
Magro, Gaetano
Vigneri, Paolo
Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title_full Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title_fullStr Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title_full_unstemmed Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title_short Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature
title_sort giant paratesticular liposarcoma: molecular characterization and management principles with a review of the literature
topic Interesting Images
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498211/
https://www.ncbi.nlm.nih.gov/pubmed/36140560
http://dx.doi.org/10.3390/diagnostics12092160
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