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      Immunohistochemical Diagnosis of Primary Cardiac Leiomyosarcoma in a Latin American Patient

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          Abstract

          Primary cardiac malignancies are rare entities. Although sarcomas enclosed the main group of malignant heart neoplasms, primary cardiac leiomyosarcomas are extremely rare and constitutes less than 8% of cardiac tumors. Leiomyosarcoma usually originates from the pulmonary veins and have a worm-like shaped structure. In this article, we present a case of a 40-year-old Hispanic man diagnosed with a cardiac tumor who underwent surgical resection, during pathological examination the tissue samples were consistent with a malignancy of mesenchymal origin that contained irregular bundles of spindle cells. Subsequent immunohistochemical study categorized the mass as a primary heart leiomyosarcoma with positive smooth muscle actin and muscle specific actin. As usual in this type of malignancy, patient’s clinical status declined overtime, recurrence was diagnosed two months after surgery, and four months after the procedure the patient was discharge for palliative care.

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          Most cited references19

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          Intimal sarcoma is the most frequent primary cardiac sarcoma: clinicopathologic and molecular retrospective analysis of 100 primary cardiac sarcomas.

          We report novel molecular and pathologic features of sarcomas involving the heart. Intimal sarcoma appears as the most frequent primary cardiac sarcoma within the largest described series of 100 primary cardiac sarcomas. Immunohistochemical analysis, fluorescence in situ hybridization, real-time polymerase chain reaction, and array-comparative genomic hybridization were performed on materials from 65 women and 35 men, aged 18 to 82 years (mean 50 y), retrieved from the French Departments of Pathology, between 1977 and early 2013. Right and left heart was involved in 44 and 56 cases, respectively. There were 42 intimal sarcomas, 26 angiosarcomas, 22 undifferentiated sarcomas, 7 synovial sarcomas, 2 leiomyosarcomas, and 1 peripheral neuroectodermal tumor. All but 1 angiosarcomas originated from the right heart, whereas 83% of the intimal sarcomas and 72% of the undifferentiated sarcomas were from the left heart. MDM2 overexpression was immunohistochemically observed in all intimal sarcomas, as well as in 10 of the 22 undifferentiated sarcomas and in 5 of the 26 angiosarcomas. MDM2 amplification was only demonstrated in intimal sarcomas. Genomic analysis showed a complex profile, with recurrent 12q13-14 amplicon involving MDM2, 4q12 amplicon involving KIT and PDGFRA, 7p12 gain involving EGFR, and 9p21 deletion targeting CDKN2A. Immunohistochemical detection of MDM2 overexpression can easily detect intimal sarcoma, provided that molecular aberration is proved. As resections are limited to the left atrium, this histologic subtype could benefit from therapies targeting PDGFRA or MDM2.
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            Primary cardiac sarcomas: an immunohistochemical and grading study with long-term follow-up of 24 cases.

            Primary cardiac sarcomas are rare and aggressive tumours. The aims of this study were to precisely classify cardiac sarcomas according to their pathology, and to determine their clinicopathological features and prognosis. Twenty-four primary cardiac sarcomas were studied. Clinical features and follow-up of all patients were collected. Histological diagnoses were obtained by combining both morphological features as described in soft tissue counterparts and the immunoprofile of the tumours. The 24 cases were classified as undifferentiated sarcoma (nine cases), angiosarcoma (six cases all located in the right atrium), leiomyosarcoma (six cases), malignant fibrous histiocytoma (one pleomorphic and one giant cell type) and synovial sarcoma (one case). Patients included 14 men and 10 women, with a mean age of 46 years. Clinical manifestations were protean, often delaying the diagnosis. Dyspnoea resulting from obstruction of the cardiac chambers was the most common symptom. Echocardiography and magnetic resonance imaging were useful respectively to detect and to evaluate tumour extension. Complete macroscopic resection was possible in only 33% of patients. The most common cause of death was local recurrence of the tumours (50%), even in the cases of complete macroscopic resection. Whatever the treatment, the prognosis was poor with a mean survival of 16.5 months after diagnosis. All types of sarcomas may be observed in the heart with a predominance of undifferentiated sarcomas. Histological grading, unlike histological type, seems to correlate with survival which remains extremely poor.
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              Malignant tumors of the heart.

              Primary malignant cardiac tumors are rare, and mostly manifest as sarcomas in various types. As non-invasive diagnostic modalities, e.g. echocardiography and magnetic resonance imaging, have become more sensitive, there is a marked increase in the number of patients diagnosed. Nevertheless, most patients die within one year of initial diagnosis, either because of the often asymptomatic presentation of cardiac tumors until advanced disease, or a low index of suspicion on the part of the physician. The presenting symptoms, treatment options and, indeed, prognosis are largely controlled by the tumor's anatomic location. Cardiac sarcomas may present with a variety of symptoms and are known to be great mimickers. A quick diagnosis facilitates the initiation of a proper treatment (surgical resection, adjuvant chemotherapy), which may in turn improve the prognosis. Metastases to the heart are far more common, unfortunately, clinical manifestations are mainly dominated by generalized tumor spread. The article summarizes epidemiology, symptoms, diagnostic modalities, and possible treatment options.
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                Author and article information

                Journal
                Rare Tumors
                Rare Tumors
                RT
                Rare Tumors
                PAGEPress Publications, Pavia, Italy
                2036-3605
                2036-3613
                28 March 2017
                24 March 2017
                : 9
                : 1
                : 6669
                Affiliations
                [1 ]Centro de Investigación en Ciencias de la Salud, Facultad de Ciencias de la Salud, Universidad Anáhuac México Norte , Tlalpan, Mexico City
                [2 ]Echocardiography and Hemodynamics Service, Instituto Nacional de Enfermedades Respiratorias , Tlalpan, Mexico City
                [3 ]Department of Pathology, Instituto Nacional de Cardiología Ignacio Chavez , Mexico City
                [4 ]Department of Hepatopancreatobiliary Surgery, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán , Mexico City
                [5 ]Department of Cardiovascular Surgery, Instituto Nacional de Cardiología Ignacio Chavez , Mexico City, Mexico
                [6 ]Department of Cardiology, Instituto Nacional de Cardiología Ignacio Chavez, Mexico City , Mexico
                Author notes
                Centro de Investigación en Ciencias de la Salud (CICSA), Facultad de Ciencias de la Salud, Universidad Anáhuac México, Av. Universidad Anáhuac No 46, Colonia Lomas Anáhuac, Huixquilucan, Edo. de México, CP 52786, México. +52.55.56270210. rubenblachman@ 123456gmail.com

                Contributions: the authors contributed equally.

                Article
                10.4081/rt.2017.6669
                5379229
                b979d0c5-0354-4814-b4da-7d8ea7b0f79f
                ©Copyright R. Blachman-Braun et al., 2017

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 29 June 2016
                : 27 August 2016
                : 20 October 2016
                Page count
                Figures: 3, Tables: 0, Equations: 0, References: 19, Pages: 4
                Funding
                Funding: the Facultad de Ciencias de la Salud of the Universidad Anáhuac México Norte covered the charges of publication related to this article.
                Categories
                Case Report

                Oncology & Radiotherapy
                primary cardiac tumors,leiomyosarcoma,spindle cells,smooth muscle actin,muscle specific actin

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