Cardiac angiosarcoma: histopathologic, immunohistochemical, and cytogenetic analysis of 10 cases

Leduc, Charles; Jenkins, Sarah M.; Sukov, William R.; Rustin, Jeannette G; Maleszewski, Joseph J.

doi:10.1016/j.humpath.2016.10.014

Cited by 51 publications

(51 citation statements)

References 32 publications

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“…They predominantly affect individuals aged 40-50 years, but have been described in all age groups 68 . The aetiology of these lesions is not known, but complex cytogenetic alterations have been described in a number of studies [68][69][70] .…”

Section: Angiosarcomasmentioning

confidence: 99%

Pathology, imaging, and treatment of cardiac tumours

et al. 2017

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Cardiac tumours are a rare, but often devastating, clinical diagnosis. They encompass a broad set of lesions that include both neoplastic and non-neoplastic conditions. Cardiac tumours are often diagnosed incidentally during work-up for other conditions, or during ultrasound, CT, or MRI scans for unusual or nonspecific symptoms. In the past decade, important changes have been made in the nomenclature and the recommendations for diagnosis of cardiac tumours, as highlighted by the WHO's 2015 revision of the classification of cardiac tumours. Moreover, important advances in molecular genetics and therapeutics offer new approaches for the diagnosis and treatment of affected patients. In this Review, we provide an overview of the clinical, pathological, and imaging characteristics of all types of cardiac masses, including both benign and malignant primary cardiac neoplasms.

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Section: Angiosarcomasmentioning

confidence: 99%

Pathology, imaging, and treatment of cardiac tumours

et al. 2017

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“…Cardiac angiosarcoma represents a clinically aggressive high‐grade sarcoma usually composed of slit‐like channels or cellular fascicles of eosinophilic spindle cells, often associated with necrosis, increased mitotic activity and hemorrhagic stroma. In contrast to EHE, angiosarcomas have a complex molecular signature and lack recurrent WWTR1 gene rearrangements …”

Section: Discussionmentioning

confidence: 99%

Variant WWTR1 gene fusions in epithelioid hemangioendothelioma—A genetic subset associated with cardiac involvement

Suurmeijer

Dickson

Swanson

et al. 2020

Genes Chromosomes & Cancer

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The genetic hallmark of epithelioid hemangioendothelioma (EHE) is a recurrent WWTR1-CAMTA1 fusion, which is present in most cases bearing a conventional histology. A subset of cases is characterized by a distinct morphology and harbors instead of YAP1-TFE3 fusion. Nevertheless, isolated cases lack these canonical fusions and remain difficult to classify. Triggered by an index case of a left atrial mass in a 76-year-old female with morphologic features typical of EHE, but which showed a WWTR1-MAML2 fusion by targeted RNA sequencing, we searched our files for similar cases displaying alternative WWTR1 fusions. A total of 6 EHE cases were identified with variant WWTR1 fusions, four of them presenting within the heart. There were three females and three males, with a wide age range at diagnosis (21-76 years, mean 62, median 69). The four cardiac cases occurred in older adults (mean age of 72, equal gender distribution); three involved the left atrium and one the right ventricle. One case presented in the vertebral bone and one in pelvic soft tissue. Microscopically, all tumors had morphologic features within the spectrum of classic EHE; two of the cases appeared overtly malignant. All cases were tested by FISH and four were investigated by targeted RNA sequencing. Two tumors harbored WWTR1-MAML2 fusions, one WWTR1-ACTL6A, and in three cases, no WWTR1 partner was identified. Of the four patients with follow-up, two died of disease, one was alive with lung metastases, and the only patient free of disease was s/p resection of a T11 vertebral mass. Our findings report on additional genetic variants involving WWTR1 rearrangements, with WWTR1-MAML2 being a recurrent event, in a small subset of EHE, which appears to have predilection for the heart.

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“…Although imaging examinations are important, the definitive diagnosis of cardiac angiosarcoma is based on histopathology. [ 15 ] Previously, the diagnosis of cardiac angiosarcoma was made by surgery or postmortem. [ 15 ] In addition, hemorrhagic pericardial fluid and cytologic examination of fluid were helpful for diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…[ 15 ] Previously, the diagnosis of cardiac angiosarcoma was made by surgery or postmortem. [ 15 ] In addition, hemorrhagic pericardial fluid and cytologic examination of fluid were helpful for diagnosis. [ 16 ] However, histopathology based on tissue specimens is critical for clarifying the nature of a cardiac mass.…”

Section: Discussionmentioning

confidence: 99%

Right atrial epithelioid angiosarcoma with multiple pulmonary metastasis confirmed by multimodality imaging-guided pulmonary biopsy

et al. 2018

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Rationale:Primary cardiac tumors are very rare, and angiosarcoma accounts for about 33% of all primary malignant cardiac tumors. Primary cardiac epithelioid angiosarcoma is a highly aggressive and difficult to diagnose tumor, with early systemic metastasis and poor prognosis.Patient concerns:A 35-year-old Han male experienced sudden severe palpitation and moderate dyspnea. The patient received a whole body F-18 fluoro-deoxyglucose positron emission tomography (18F-FDG PET)/computed tomography (CT) scan, the scan showed a large mass in the right atrium (RA) and numerous pulmonary nodules in both lungs.Diagnoses:The patient was diagnosed as right atrial epithelioid angiosarcoma with multiple pulmonary metastasis by pulmonary biopsy through CT-guided percutaneous transthoracic fine needle aspiration.Interventions:The patient received a cycle of chemotherapy with docetaxel and gemcitabine, followed by another cycle with epirubicin and ifosfamide.Outcomes:The chemotherapy was ineffective. After the two cycles, the bilateral pleural effusion steadily increased, the patient had severe dyspnea and palpitation, and died three weeks later, with an overall survival of 2.5 months.Lessons:Primary angiosarcoma of heart is a very rare and aggressive disease, and its diagnosis and treatment are difficult. Most patients may have systemic metastasis at diagnosis, and have a very short survival without surgical resection. Hence, early diagnosis and surgical resection is extremely important to treat this disease.

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Cardiac angiosarcoma: histopathologic, immunohistochemical, and cytogenetic analysis of 10 cases

Cited by 51 publications

References 32 publications

Pathology, imaging, and treatment of cardiac tumours

Pathology, imaging, and treatment of cardiac tumours

Variant WWTR1 gene fusions in epithelioid hemangioendothelioma—A genetic subset associated with cardiac involvement

Right atrial epithelioid angiosarcoma with multiple pulmonary metastasis confirmed by multimodality imaging-guided pulmonary biopsy

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