Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2019; 7(19): 3018-3026
Published online Oct 6, 2019. doi: 10.12998/wjcc.v7.i19.3018
Successful multidisciplinary clinical approach and molecular characterization by whole transcriptome sequencing of a cardiac myxofibrosarcoma: A case report
Maristella Saponara, Valentina Indio, Carmine Pizzi, Elena-Daniela Serban, Milena Urbini, Annalisa Astolfi, Pasquale Paolisso, Sofia Martin Suarez, Margherita Nannini, Davide Pacini, Valentina Agostini, Ornella Leone, Valentina Ambrosini, Giuseppe Tarantino, Stefano Fanti, Fabio Niro, Francesco Buia, Domenico Attinà, Maria Abbondanza Pantaleo
Maristella Saponara, Margherita Nannini, Maria Abbondanza Pantaleo, Department of Specialized, Experimental and Diagnostic Medicine, Medical Oncology Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Valentina Indio, Milena Urbini, Annalisa Astolfi, Giuseppe Tarantino, Maria Abbondanza Pantaleo, “Giorgio Prodi” Cancer Research Center, University of Bologna, Bologna 40138, Italy
Carmine Pizzi, Pasquale Paolisso, Department of Specialized, Experimental and Diagnostic Medicine, Cardiology and Transplantation Unit, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Elena-Daniela Serban, Valentina Agostini, Ornella Leone, Department of Pathology, Cardiovascular Pathology Unit, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Sofia Martin Suarez, Davide Pacini, Departments of Cardiovascular Surgery and Transplantation, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Valentina Ambrosini, Stefano Fanti, Department of Specialized, Experimental and Diagnostic Medicine, Nuclear Medicine Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Fabio Niro, Francesco Buia, Domenico Attinà, Department of Specialized, Experimental and Diagnostic Medicine, Radiology Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Author contributions: Saponara M, Serban E and Pizzi C conceived and wrote the paper, performed clinical examination and collected data; Nannini M and Paolisso P contributed to manuscript draft and follow-up data collection; Suarez SM and Pacini D performed surgery; Agostini V and Leone O performed the histologic and pathologic examination of the surgical tissue and have been involved in drafting figures; Indio V, Urbini M, Astolfi A and Tarantino G performed the whole transcriptome sequencing of the surgical tissue and its bioinformatic analysis and have been involved in drafting figures; Ambrosini V, Fanti S, Niro F, Buia F and Attinà D performed PET-CT and CT imaging and have been involved in drafting figures; Pantaleo MA contributed to concept and revised the manuscript; All authors read and approved the final version of the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Maristella Saponara, MD, Academic Research, Department of Specialized, Experimental and Diagnostic Medicine, Medical Oncology Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 9, Bologna 40138, Italy. maristella.saponara@unibo.it
Telephone: +39-51-2144769 Fax: +39-51-6363815
Received: April 8, 2019
Peer-review started: April 8, 2019
First decision: June 12, 2019
Revised: June 16, 2019
Accepted: July 27, 2019
Article in press: July 27, 2019
Published online: October 6, 2019
Core Tip

Core tip: We present the case of an elderly woman affected by myxofibrosarcoma of the left atrium, a rare histotype of cardiac sarcoma. She underwent surgery, however disease unfortunately recurred. Therefore, she started first and second line chemotherapy with doxorubicin and then gemcitabine, obtaining a good and durable radiologic response and a complete metabolic response. An accurate histologic description is reported, and molecular characterization of the tumor, by whole transcriptome sequencing, is also encompassed. This is done in order to better characterize this rare cancer, and to possibly identify pathognomonic molecular events or gene expression profiles shared with other sarcomas amenable for targeted medical therapy.