Case report: Cardiac intimal sarcoma in a young child

Verbeek, Sanne; Sciot, Raf; Debiec-Rychter, Maria; Labarque, Veerle; Meyns, Bart; Cools, Bjorn

doi:10.3389/fped.2023.1238847

Cited by 3 publications

(1 citation statement)

References 27 publications

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“…Alive with stable disease Bergonzoni et al [82] 73 M Dyspnea, orthopnea, and cough Chest and liver NA Ung et al [83] 52 F Arthralgia involving both hands, wrists, knees and ankles. Dyspnea None Alive as at data cutoff Awoyemi et al [84] 68 F Chest pressure and dyspnea on exertion None NA Verbeek et al [85] 4 M Progressive fatigue, exertional dyspnea None NA F: female; M: male; NA: not available.…”

Section: Nonementioning

confidence: 99%

Cardiac intima sarcoma: a rapid review of case reports

Awoyemi,

Gwira-Tamattey,

Oluwole

et al. 2024

Cardiology Plus

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Background and purpose: Cardiac intimal sarcoma (CIS) is a rare and often misdiagnosed clinical entity with notably high morbidity and mortality rates. Urgent efforts are required to comprehensively the disease and establish evidence-based management guidelines. Given the relative scarcity of data and the imperative for consensus on management strategies, this review assumes critical importance. Through a rapid review approach, we aims to synthesize and consolidate information gleaned from published case reports, thereby offering an up-to-date resource for CIS’s natural history. Methods: Utilizing inductive content analysis, we systematically searched for and synthesized case reports and series. Keywords related to CIS guided our search on Medline via Ovid, Scopus, and Web of Science from inception until March 17, 2024. Results: Our review identified 79 CIS, characterized by a mean age of 52 years, predominantly male (58%), with left-sided lesions. Approximately one-third of the patients presented with cardiovascular symptoms, and transthoracic echocardiography emerged as the preferred initial diagnostic modality in most cases. Fluorescence in situ hybridization (FISH) analysis on pre-operative tissue biopsies found murine double minute 2 (MDM2) amplification in 95% of cases tested. While surgery remained the cornerstone of treatment, recurrence occurred in 14% of cases postoperatively, with 28% succumbing to the disease despite therapeutic interventions. Conclusions: This synthesis of published case reports and series provides updated insights into the clinical profile CIS. Our findings highlight the need for increased clinical awareness, precise data collection, and further research to enhance diagnostic accuracy, treatment approaches, and patient outcomes in CIS.

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Section: Nonementioning

confidence: 99%

Cardiac intima sarcoma: a rapid review of case reports

Awoyemi,

Gwira-Tamattey,

Oluwole

et al. 2024

Cardiology Plus

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Undifferentiated Sarcoma of the Right Atrium: A Case Report and Literature Review

杨

2024

ACM

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Primary Cardiac Intimal Sarcoma: Multi-Layered Strategy and Core Role of MDM2 Amplification/Co-Amplification and MDM2 Immunostaining

Nistor,

Stanciu Gavan,

Birceanu

et al. 2024

Diagnostics

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Primary cardiac tumours are relatively uncommon (75% are benign). Across the other 25%, representing malignant neoplasia, sarcomas account for 75–95%, and primary cardiac intimal sarcoma (PCIS) is one of the rarest findings. We aimed to present a comprehensive review and practical considerations from a multidisciplinary perspective with regard to the most recent published data in the specific domain of PCIS. We covered the issues of awareness amid daily practice clinical presentation to ultra-qualified management in order to achieve an adequate diagnosis and prompt intervention, also emphasizing the core role of MDM2 immunostaining and MDM2 genetic analysis. An additional base for practical points was provided by a novel on-point clinical vignette with MDM2-positive status. According to our methods (PubMed database search of full-length, English publications from January 2021 to March 2023), we identified three studies and 23 single case reports represented by 22 adults (male-to-female ratio of 1.2; male population with an average age of 53.75 years, range: 35–81; woman mean age of 55.5 years, range: 34–70) and a 4-year-old child. The tumour-related clinical picture was recognized in a matter of one day to ten months on first admission. These non-specific data (with a very low index of suspicion) included heart failure at least NYHA class II, mitral regurgitation and pulmonary hypertension, acute myocardial infarction, ischemic stroke, obstructive shock, and paroxysmal atrial fibrillation. Awareness might come from other complaints such as (most common) dyspnoea, palpitation, chest pressure, cough, asthenia, sudden fatigue, weakness, malaise, anorexia, weight loss, headache, hyperhidrosis, night sweats, and epigastric pain. Two individuals were initially misdiagnosed as having endocarditis. A history of prior treated non-cardiac malignancy was registered in 3/23 subjects. Distant metastasis as the first step of detection (n = 2/23; specifically, brain and intestinal) or during follow-up (n = 6/23; namely, intestinal, brain and bone, in two cases for each, and adrenal) required additional imagery tools (26% of the patients had distant metastasis). Transoesophageal echocardiography, computed tomography (CT), magnetic resonance imagery, and even 18F-FDG positronic emission tomography-CT (which shows hypermetabolic lesions in PCIS) represent the basis of multimodal tools of investigation. Tumour size varied from 3 cm to ≥9 cm (average largest diameter of 5.5 cm). The most frequent sites were the left atrium followed by the right ventricle and the right atrium. Post-operatory histological confirmation was provided in 20/23 cases and, upon tumour biopsy, in 3/23 of them. The post-surgery maximum free-disease interval was 8 years, the fatal outcome was at the earliest two weeks since initial admission. MDM2 analysis was provided in 7/23 subjects in terms of MDM2-positive status (two out of three subjects) at immunohistochemistry and MDM2 amplification (four out of five subjects) at genetic analysis. Additionally, another three studies addressed PCISs, and two of them offered specific MDM2/MDM2 assays (n = 35 patients with PCISs); among the provided data, we mention that one cohort (n = 20) identified a rate of 55% with regard to MDM2 amplification in intimal sarcomas, and this correlated with a myxoid pattern; another cohort (n = 15) showed that MDM2-positive had a better prognostic than MDM2-negative immunostaining. To summarize, MDM2 amplification and co-amplification, for example, with MDM4, CDK4, HMGA3, CCND3, PDGFRA, TERT, KIT, CCND3, and HDAC9, might improve the diagnosis of PCIS in addition to MDM2 immunostaining since 10–20% of these tumours are MDM2-negative. Further studies are necessary to highlight MDM2 applicability as a prognostic factor and as an element to be taken into account amid multi-layered management in an otherwise very aggressive malignancy.

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Case report: Cardiac intimal sarcoma in a young child

Cited by 3 publications

References 27 publications

Cardiac intima sarcoma: a rapid review of case reports

Cardiac intima sarcoma: a rapid review of case reports

Undifferentiated Sarcoma of the Right Atrium: A Case Report and Literature Review

Primary Cardiac Intimal Sarcoma: Multi-Layered Strategy and Core Role of MDM2 Amplification/Co-Amplification and MDM2 Immunostaining

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