A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models-Reference-Cited by-同舟云学术

A Case Study of a Rare Undifferentiated Spindle Cell Sarcoma of the Penis: Establishment and Characterization of Patient-Derived Models

Published:2024-03-28 Issue:4 Volume:15 Page:424
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Sousa Ariane Cavalcante dos Santos¹²³,Fernandes Bruno Leonardo Nascimento Correa⁴,da Silva Jeronimo Paulo Assis⁵,Stevanato Filho Paulo Roberto⁶,Coimbra Luiza Bitencourt de Carvalho Terci¹²^ORCID,de Oliveira Beserra Adriano¹²³,Alvarenga Ana Luiza¹²,Maida Giovanna¹²,Guimaraes Camila Tokumoto¹²,Nakamuta Ingrid Martinez³⁷,Marchi Fabio Albuquerque⁸,Alves Camila⁹,Lichtenfels Martina⁹,de Farias Caroline Brunetto⁹,Kupper Bruna Elisa Catin⁶^ORCID,Costa Felipe D’Almeida⁶¹⁰^ORCID,de Mello Celso Abdon Lopes⁶^ORCID,Carraro Dirce Maria¹²,Torrezan Giovana Tardin¹²^ORCID,Lopes Ademar⁶,dos Santos Tiago Goss¹²^ORCID

Affiliation:

1. Clinical and Functional Genomics Group, A.C. Camargo Cancer Center, Sao Paulo 01508-010, Brazil

2. National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, Sao Paulo 01508-010, Brazil

3. Graduate Program of A.C.Camargo Cancer Center, Sao Paulo 01508-020, Brazil

4. Sao Lucas Hospital Rede D’Or, Sergipe Emergency Hospital Oncology Service, Aracaju 49081-060, Brazil

5. Real Institute of Oncological Surgery, Real Hospital Português, Recife 52010-075, Brazil

6. Reference Center in Sarcoma, A.C. Camargo Cancer Center, Sao Paulo 01509-900, Brazil

7. Heart Institute of School of Medicine, University of Sao Paulo, Sao Paulo 05403-900, Brazil

8. Center for Translational Research in Oncology, Cancer Institute of the State of Sao Paulo (ICESP), Clinical Hospital of the University of Sao Paulo Medical School (HCFMUSP), Sao Paulo 01246-000, Brazil

9. Ziel Biosciences, Department of Translational Research, Porto Alegre 90050-170, Brazil

10. Anatomic Pathology Department, A.C. Camargo Cancer Center, Sao Paulo 01509-900, Brazil

Abstract

Rare sarcomas present significant treatment challenges compared to more prevalent soft tissue sarcomas due to limited treatment options and a poor understanding of their biology. This study investigates a unique case of penile sarcoma, providing a comprehensive morphological and molecular analysis. Through the creation of experimental patient-derived models—including patient-derived xenograft (PDX), 3D, and monolayer primary cultures—we successfully replicated crucial molecular traits observed in the patient’s tumor, such as smooth muscle actin and CD99 expression, along with specific mutations in genes like TSC2 and FGFR4. These models are helpful in assessing the potential for an in-depth exploration of this tumor’s biology. This comprehensive approach holds promise in identifying potential therapeutic avenues for managing this exceedingly rare soft tissue sarcoma.

Funder

Sao Paulo State Research Support Foundation

National Council for Scientific and Technological Development

Programa Nacional de Apoio à Atenção Oncológica

Higher Education Improvement Coordination

Publisher

MDPI AG

Link

https://www.mdpi.com/2073-4425/15/4/424/pdf

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