IF 1.2 Q4 ONCOLOGY
ecancermedicalscience Pub Date : 2024-12-05 eCollection Date: 2024-01-01 DOI:10.3332/ecancer.2024.1811
Javeria Haider, Humera Mahmood, Muhammad Faheem, Shaista Khurshid
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引用次数: 0

摘要

滑膜肉瘤是一种罕见的间质肿瘤,主要发生在 30 岁以下的青少年和成年人身上。其特点是 X 染色体和 18 染色体之间发生易位,导致 SS18:SSX 融合蛋白的表达。虽然它可以发生于各种软组织,但下肢是最常见的发病部位。心包滑膜肉瘤是一种极为罕见的心脏原发性恶性肿瘤,预后不明。巴基斯坦仅有少数病例报道。在此,我们报告了一例 33 岁男性病例,患者出现胸痛和气短症状。多学科肿瘤委员会对该病例进行了讨论,外科医生推迟了手术,因为手术具有高死亡率风险,患者也拒绝接受手术,因此他首先接受了全身化疗,化疗反应非常好,随后转为使用帕唑帕尼(小分子酪氨酸激酶抑制剂)进行维持治疗。本报告旨在分享该患者的诊断和治疗情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pericardial synovial sarcoma in a young adult: case report of a rare malignancy.

Synovial sarcoma is a rare mesenchymal tumour that mainly presents in adolescents and adults younger than 30. It is characterised by a translocation between chromosomes X and 18, which leads to the expression of SS18:SSX fusion proteins. Although it can arise from various soft tissues, the lower limb is the most common site of origin. Pericardial synovial sarcoma is an extremely rare primary malignant tumour of the heart with an unclear prognosis. There are only a few cases reported from Pakistan. Here, we report a case of a 33-year-old male who presented with symptoms of chest pain and shortness of breath. The case was discussed in a multi-disciplinary tumour board and the surgeons deferred surgery as it was associated with high-risk mortality and was also refused by the patient so he was first managed with systemic chemotherapy to which he responded very well and was shifted to maintenance therapy using Pazopanib (small molecule tyrosine kinase inhibitors), to which he initially responded but later symptoms started to worsen and there was an interval increase in the size of the lesion. This report aims to share the diagnosis and management of this patient.

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来源期刊
CiteScore
3.80
自引率
5.60%
发文量
138
审稿时长
27 weeks
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