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罕见肝脏血管周上皮样细胞肿瘤的诊断挑战与影像学见解:一例报告并文献复习

Diagnostic challenges and radiological insights of rare hepatic perivascular epithelioid cell tumor: A case report and review of the literature.

作者信息

Zhou Jun-An, Fan Zheng-Chao, Zheng Ru-Jun, Guo Qin-Xi, Su Song

机构信息

Department of General Surgery (Hepatobiliary Surgery), The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China.

Department of Ultrasound, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China.

出版信息

World J Gastrointest Surg. 2025 May 27;17(5):105220. doi: 10.4240/wjgs.v17.i5.105220.

DOI:10.4240/wjgs.v17.i5.105220
PMID:40502502
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12149916/
Abstract

BACKGROUND

Hepatic perivascular epithelioid cell tumor (PEComa) is an extremely rare neoplasm that is often difficult to diagnose due to its nonspecific clinical and radiological features. This case emphasizes the importance of imaging and histopathological examination in distinguishing PEComa from other liver tumors, and the necessity of early intervention.

CASE SUMMARY

A 36-year-old woman presented with a liver mass discovered during a routine physical examination. Initially diagnosed as focal nodular hyperplasia based on contrast-enhanced computed tomography, she declined surgical intervention. Two years later, re-examination revealed an approximately 60% increase in the size of the mass and suggested the possibility of hepatocellular carcinoma. She subsequently underwent surgical resection. Postoperative histopathological and immunohistochemical analysis revealed positivity for HMB-45 and Melan-A, confirming the diagnosis of hepatic PEComa. A 13-month follow-up revealed no recurrence or metastasis.

CONCLUSION

Hepatic PEComa requires a combination of radiological and immunohistochemical evaluation for accurate diagnosis. This case highlights the importance of early surgical intervention and regular follow-up to monitor for recurrence or metastasis.

摘要

背景

肝血管周上皮样细胞肿瘤(PEComa)是一种极其罕见的肿瘤,由于其非特异性的临床和放射学特征,常难以诊断。本病例强调了影像学和组织病理学检查在鉴别PEComa与其他肝脏肿瘤中的重要性,以及早期干预的必要性。

病例摘要

一名36岁女性在常规体检中发现肝脏肿物。最初根据增强计算机断层扫描诊断为局灶性结节性增生,她拒绝了手术干预。两年后,复查显示肿物大小增加了约60%,提示肝细胞癌的可能性。她随后接受了手术切除。术后组织病理学和免疫组化分析显示HMB-45和Melan-A呈阳性,确诊为肝PEComa。13个月的随访显示无复发或转移。

结论

肝PEComa需要结合放射学和免疫组化评估以准确诊断。本病例突出了早期手术干预和定期随访以监测复发或转移的重要性。

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本文引用的文献

1
Next-Generation Sequencing: Key for Diagnosing Angiomyolipoma - A Case Report.下一代测序:诊断血管平滑肌脂肪瘤的关键——病例报告
Case Rep Oncol. 2025 Jan 3;18(1):247-254. doi: 10.1159/000542960. eCollection 2025 Jan-Dec.
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Hepatic perivascular epithelioid cell tumors: Benign, malignant, and uncertain malignant potential.肝血管周上皮样细胞瘤:良性、恶性和恶性潜能不确定。
World J Gastroenterol. 2024 May 14;30(18):2374-2378. doi: 10.3748/wjg.v30.i18.2374.
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Hepatic perivascular epithelioid cell tumors: The importance of preoperative diagnosis.
肝血管周上皮样细胞肿瘤:术前诊断的重要性。
World J Gastroenterol. 2024 Apr 7;30(13):1926-1933. doi: 10.3748/wjg.v30.i13.1926.
4
Perivascular epithelioid cell tumor (PEComa) of the liver. An extremely rare diagnosis.肝血管周上皮样细胞瘤(PEComa)。一种极其罕见的诊断。
Rev Esp Enferm Dig. 2023 Jun;115(6):348-349. doi: 10.17235/reed.2023.9558/2023.
5
Hepatic perivascular epithelioid cell tumor (PEComa): contrast-enhanced ultrasound (CEUS) characteristics-a case report and literature review.肝血管周上皮样细胞瘤(PEComa):超声造影(CEUS)特征——一例病例报告及文献复习。
Clin J Gastroenterol. 2023 Jun;16(3):444-449. doi: 10.1007/s12328-023-01779-w. Epub 2023 Mar 25.
6
Hepatic Perivascular Epithelioid Cell Tumor Mimicking Hepatocellular Carcinoma.酷似肝细胞癌的肝血管周上皮样细胞肿瘤
ACG Case Rep J. 2023 Jan 20;10(1):e00962. doi: 10.14309/crj.0000000000000962. eCollection 2023 Jan.
7
Perivascular epithelioid cell tumors of the liver misdiagnosed as hepatocellular carcinoma: Three case reports.误诊为肝细胞癌的肝脏血管周上皮样细胞肿瘤:三例报告
World J Clin Cases. 2023 Jan 16;11(2):426-433. doi: 10.12998/wjcc.v11.i2.426.
8
Specific imaging features indicate the clinical features of patients with hepatic perivascular epithelioid cell tumor by comparative analysis of CT and ultrasound imaging.通过CT和超声成像的对比分析,特定的影像学特征提示肝血管周上皮样细胞瘤患者的临床特征。
Front Oncol. 2022 Oct 17;12:908189. doi: 10.3389/fonc.2022.908189. eCollection 2022.
9
Hepatic perivascular epithelioid cell tumor: Clinicopathological analysis of 26 cases with emphasis on disease management and prognosis.肝血管周上皮样细胞瘤:26 例临床病理分析,重点关注疾病的管理和预后。
World J Gastroenterol. 2021 Sep 21;27(35):5967-5977. doi: 10.3748/wjg.v27.i35.5967.
10
Clinical characteristics and outcomes of patients with hepatic angiomyolipoma: A literature review.肝血管平滑肌脂肪瘤患者的临床特征和结局:文献复习。
World J Gastroenterol. 2021 May 21;27(19):2299-2311. doi: 10.3748/wjg.v27.i19.2299.