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2019-11-07

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cc-by-nc (c) Salvador Coloma, Carmen et al., 2019
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/164862

Identification Of Actionable Genetic Targets In Primary Cardiac Sarcomas

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https://doi.org/10.2147/OTT.S214319

Abstract

Background: Primary cardiac tumors are extremely rare; most are myxomas with a benign prognosis. However, primary sarcomas are highly aggressive and treatment options are limited. Radical surgery is often not feasible and conventional therapies provide only modest results. Due to the rare nature of primary cardiac tumors, there are no proper randomized studies to guide treatment. Their complexity requires alternative approaches in order to improve treatment efficacy. Methods: We isolated DNA from 5 primary cardiac sarcomas; the quality of DNA from 3 of them was sufficient to perform high-resolution single nucleotide polymorphism (SNP) array analysis. Results: In the present study, molecular karyotyping revealed numerous segmental chromosomal alterations and amplifications affecting actionable genes that may be involved in disease initiation and/or progression. These include chromosomal break flanking AKT2 in undifferentiated pleomorphic rhabdomyosarcoma, chromosomal break in promoter of TERT, and gain of CDK4 and amplification of MDM2 in inflammatory myofibroblastic tumor. We detected segmental break flanking MOS in high-grade myxofibrosarcoma. In addition, the high number of chromosomal aberrations in high-grade myxofibrosarcoma may cause multiple tumor-specific epitopes, supporting the study of immunotherapy treatment in this type of aggressive tumor. Conclusion: Our results provide a genetic rationale that supports an alternative, personalized therapeutic management of primary cardiac sarcomas.

Subject

Sarcoma, Malalties del cor, Genètica, Immunoteràpia

Subject (English)

Sarcoma, Heart diseases, Genetics, Immunotheraphy

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citation

SALVADOR COLOMA, Carmen, et al. Identification Of Actionable Genetic Targets In Primary Cardiac Sarcomas. OncoTargets and Therapy. 2019. Vol. 2019, num. 12, pags. 9265-9275. ISSN 1178-6930. [consulted: 18 of August of 2026]. Available at: https://hdl.handle.net/2445/164862

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