恶性小圆细胞瘤:一罕见侵袭性恶性肿瘤病例报告

Gichuki Joseph Maina, Loise Ndunge, Anthony Gikonyo, Charles Masese, Timothy Wachira, Duncan Luvayo, Premanand Ponoth
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摘要

背景:恶性小圆细胞瘤(MSRCT)是一类非常罕见的肿瘤。恶性细胞具有相似的组织学外观,使其难以区分,并提出了诊断挑战,需要多模式方法。需要流式细胞术、逆转录酶聚合酶链反应(RT-PCR)和荧光原位杂交的免疫组织化学和免疫表型进行证实。早期MSRCT的适当和最佳治疗是根据患者的具体情况进行早期手术切除和放化疗。尽管如此,肿瘤预后差,复发率高。方法:病例研究一名27岁男性患者,他表现为非咳嗽4周,伴有发热感,体重减轻和呼吸短促,新发无放射性心前胸痛,用力时加重。检查结果:血压121/91 mm hg,脉率114bpm,体温36.3℃,呼吸频率24/ min, SPO2 96%。经检查,颈静脉压升高,心前膜亢进,先端搏动移位至第6肋间隙腋前线,心音低沉,双侧下肢水肿。呼吸检查无明显异常。痰基因专家检测结核分枝杆菌阴性,新冠肺炎快速检测阴性。胸部X线显示心脏肿大,经胸超声心动图显示中度心包积液,舒张期右心房轻度塌陷。经心包穿刺发现有淋巴细胞成分的出血性积液,患者开始经验性治疗结核性心包炎。三个月后,胸部CT扫描显示广泛的纵隔/心包肿块伴肺结节。超声引导下的纵隔/心包活检显示为低分化小圆细胞癌。结果:患者在等待肿瘤特异性诊断和肿瘤学检查的免疫组化研究期间,从最初症状出现到死亡14周。讨论:这表明在资源有限的情况下建立MSRCT鉴别诊断的复杂性,随后的治疗开始延迟,预示着预后不良。这也证实了在低分化肿瘤中建立鉴别诊断的困难。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Malignant Small Round Cell Tumor: A Rare Aggressive Malignancy-Case Report
Background: Malignant Small round Cell Tumor (MSRCT) is very rare group of tumors. Malignant cells have similar histologic appearance making it difficult to distinguish one from another, and poses a diagnostic challenge with needs for a multimodal approach. Immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymer chain reaction (RT-PCR) and fluorescence in situ hybridization are needed to confirm. The appropriate and best treatment in early stages of MSRCT is early surgical excision with chemoradiotherapy based on patient specification. Inspite of all these, tumors have poor prognosis and chance of recurrence are high. Method: Case study of a 27-year-old male who presented with a non-productive cough for 4 weeks, with feverish feeling with weight loss and shortness of breath and a new onset precordial chest pain non radiating and worse on exertion. On examination his vitals were: BP 121/91 mm of hg, pulse rate 114bpm, temperature 36.3 degrees Celsius, respiratory rate 24/per min, SPO2 96%.On examination, Elevated Jugular Venous Pressure, hyperactive precordium, displaced apex beat to 6th intercostal space anterior axillary line, muffled heart sounds and bilateral lower limb edema. Respiratory exam was unremarkable. Sputum gene expert was negative for mycobacterium tuberculosis and covid 19 rapid test was negative. Chest X Ray showed cardiomegaly and a transthoracic echocardiography revealed moderate-large pericardial effusion, with mild collapse of right atrium in diastole. Pericardiocentesis done showed hemorrhagic effusion with lymphocytes cell component, patient was initiated on treatment for TB pericarditis empirically. Three months later a chest CT scan done revealed extensive mediastinal/pericardial mass with lung nodules. An ultrasound guided mediastinal/Pericardial biopsy was done, revealed a poorly differentiated small round cell carcinoma. Results: Patient expired 14 weeks from the initial onset of symptoms while awaiting immunohistochemistry studies for specific diagnosis of the tumor and oncology review. Discussion: This demonstrates the complexity of establishing differential diagnosis of MSRCT in a resource limited setting with subsequent delay in treatment initiation, heralds poor prognosis. This also confirms difficulties in establishing differential diagnosis in poorly differentiated tumor.
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