Successful multidisciplinary clinical approach and molecular characterization by whole transcriptome sequencing of a cardiac myxofibrosarcoma: A case report  

作　　者：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 

机构地区：[1]Department of Specialized,Experimental and Diagnostic Medicine,Medical Oncology Unit,Sant'Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy [2]“Giorgio Prodi”Cancer Research Center,University of Bologna,Bologna 40138,Italy [3]Department of Specialized,Experimental and Diagnostic Medicine,Cardiology and Transplantation Unit,Sant’Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy [4]Department of Pathology,Cardiovascular Pathology Unit,Sant’Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy [5]Departments of Cardiovascular Surgery and Transplantation,Sant'Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy [6]Department of Specialized,Experimental and Diagnostic Medicine,Nuclear Medicine Unit,Sant'Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy [7]Department of Specialized,Experimental and Diagnostic Medicine,Radiology Unit,Sant'Orsola-Malpighi Hospital,University of Bologna,Bologna 40138,Italy

出　　处：《World Journal of Clinical Cases》2019年第19期3018-3026,共9页世界临床病例杂志

摘　　要：BACKGROUND Cardiac tumors are rare and complex entities.Surgery represents the cornerstone of therapy,while the role of adjuvant treatment remains unclear and,in case of relapse or metastatic disease,the prognosis is very poor.Lack of prospective,randomized clinical trials hinders the generation of high level evidence for the optimal diagnostic workup and multimodal treatment of cardiac sarcomas.Herein,we describe the multidisciplinary clinical management and molecular characterization of a rare case of cardiac myxofibrosarcoma in an elderly woman.CASE SUMMARY A 73-year-old woman presented signs and symptoms of acute left-sided heart failure.Imaging examination revealed a large,left atrial mass.With suspicion of a myxoma,she underwent surgery,and symptoms were promptly relieved.Histology showed a cardiac myxofibrosarcoma,a rare histotype of cardiac sarcoma.Eight months later,disease unfortunately relapsed,and after a multidisciplinary discussion,a chemotherapy with doxorubicin and then gemcitabine was started,achieving partial radiologic and complete metabolic response,which was maintained up to 2 years and is still present.This report is focused on the entire clinical path of our patient from diagnosis to follow-up,through surgery and strategies adopted at relapse.Moreover,due to their rarity,very little is known about the molecular landscape of myxofibrosarcomas.Thus,we also performed and described preliminary genome analysis of the tumor tissue to get further insight on mechanisms involved in tumor growth,and to possibly unveil new clinically actionable targets.CONCLUSION We report a case of cardiac myxofibrosarcoma that achieved a very good prognosis due to an integrated surgical,cardiac and oncologic treatment strategy.BACKGROUND Cardiac tumors are rare and complex entities. Surgery represents the cornerstone of therapy, while the role of adjuvant treatment remains unclear and, in case of relapse or metastatic disease, the prognosis is very poor. Lack of prospective,randomized clinical trials hinders the generation of high level evidence for the optimal diagnostic workup and multimodal treatment of cardiac sarcomas.Herein, we describe the multidisciplinary clinical management and molecular characterization of a rare case of cardiac myxofibrosarcoma in an elderly woman.CASE SUMMARY A 73-year-old woman presented signs and symptoms of acute left-sided heart failure. Imaging examination revealed a large, left atrial mass. With suspicion of a myxoma, she underwent surgery, and symptoms were promptly relieved.Histology showed a cardiac myxofibrosarcoma, a rare histotype of cardiac sarcoma. Eight months later, disease unfortunately relapsed, and after a multidisciplinary discussion, a chemotherapy with doxorubicin and then gemcitabine was started, achieving partial radiologic and complete metabolic response, which was maintained up to 2 years and is still present. This report is focused on the entire clinical path of our patient from diagnosis to follow-up,through surgery and strategies adopted at relapse. Moreover, due to their rarity,very little is known about the molecular landscape of myxofibrosarcomas. Thus,we also performed and described preliminary genome analysis of the tumor tissue to get further insight on mechanisms involved in tumor growth, and to possibly unveil new clinically actionable targets.CONCLUSION We report a case of cardiac myxofibrosarcoma that achieved a very good prognosis due to an integrated surgical, cardiac and oncologic treatment strategy.

关 键 词：CARDIAC SARCOMA MYXOFIBROSARCOMA WHOLE transcriptome sequencing Doxorubicin GEMCITABINE Case report 

分 类 号：R73[医药卫生—肿瘤]