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[成人肝脏间叶性错构瘤的临床病理分析]

[Clinicopathological analysis of adult hepatic mesenchymal hamartoma].

作者信息

Gou X N, Xu W, Dong Z H, Wang Z B

机构信息

Department of Pathology, the First Medical Center of PLA General Hospital, Beijing 100853, China.

Department of Radiology, the First Medical Center of PLA General Hospital, Beijing 100853, China.

出版信息

Zhonghua Gan Zang Bing Za Zhi. 2024 Jan 20;32(1):58-63. doi: 10.3760/cma.j.cn501113-20231124-00230.

DOI:10.3760/cma.j.cn501113-20231124-00230
PMID:38320792
Abstract

To explore the clinicopathological and molecular genetic features of adult hepatic mesenchymal hamartoma (MHL). A total of five confirmed adult MHL cases diagnosed at the Pathology Department of the First Medical Center of the People's Liberation Army General Hospital between 2009 and 2022 were collected. Histomorphological observation and immunohistochemical staining were conducted. Gene detection was performed by next-generation sequencing. Among the five cases, four were male and one was female, aged 46-67 years, with an average age of 56.2 years. The maximum diameter was 5.3-13.5cm, and the average diameter was 9.2cm. Tumors were generally cystic, solid, or mixed cystic-solid. Histopathologically, in four out of five cases of MHL, malignant transformation occurred, of which three cases were malignantly transformed into undifferentiated embryonal sarcoma and one case was malignantly transformed into a malignant solitary fibrous tumor. NAB2-STAT6 gene rearrangements were identified. Adult MHL is a rare kind of tumor with malignant potential, and it is difficult to diagnose with preoperative imaging examinations. A fine-needle biopsy is rarely used for diagnosis, but surgical resection of symptomatic or enlarged lesions is recommended to rule out the possibility of malignancy and further diagnosis. Genetic testing results revealed the complex genetic alterations in MHL, and it was found that adult MHL can malignantly transform into malignant solitary fibrous tumors. We believe that genome-wide analysis is necessary to determine the unique molecular characteristics of MHL and identify potential targets for therapeutic intervention.

摘要

探索成人肝脏间叶性错构瘤(MHL)的临床病理及分子遗传学特征。收集2009年至2022年期间在中国人民解放军总医院第一医学中心病理科确诊的5例成人MHL病例。进行组织形态学观察和免疫组化染色。采用二代测序进行基因检测。5例患者中,男性4例,女性1例,年龄46 - 67岁,平均年龄56.2岁。最大直径为5.3 - 13.5cm,平均直径为9.2cm。肿瘤一般为囊性、实性或囊实性混合。组织病理学上,5例MHL中有4例发生恶变,其中3例恶变为未分化胚胎性肉瘤,1例恶变为恶性孤立性纤维瘤。检测到NAB2 - STAT6基因重排。成人MHL是一种具有恶性潜能的罕见肿瘤,术前影像学检查难以诊断。细针穿刺活检很少用于诊断,但建议对有症状或增大的病变进行手术切除,以排除恶性可能性并进一步诊断。基因检测结果揭示了MHL复杂的基因改变,发现成人MHL可恶变为恶性孤立性纤维瘤。我们认为全基因组分析对于确定MHL独特的分子特征并识别潜在的治疗干预靶点是必要的。

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