摘要
目的探讨成人肝脏间叶性错构瘤(MHL)的临床病理及分子遗传学特征。方法收集2009-2022年解放军总医院第一医学中心病理科明确诊断的成人MHL病例共5例,对其进行组织形态学观察及免疫组织化学染色,并运用二代测序方法进行基因检测。结果5例中男性4例,女性1例,年龄46~67岁,平均年龄56.2岁。最大直径5.3~13.5 cm,平均直径9.2 cm。肿瘤大体可以为囊性、实性或囊实性混合。病理组织学上5例MHL中有4例发生恶性转化,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性肿瘤并检测到NAB2-STAT6基因重排。结论成人MHL是一种罕见的、具有恶性潜能的肿瘤,术前影像学检查诊断难度大。细针活检很少用于诊断,建议手术切除有症状或增大的病变以排除恶性肿瘤的可能性并进一步诊断。基因检测结果显示了MHL复杂的基因学改变,并发现成人MHL可以恶变为恶性孤立性纤维性肿瘤,推测全基因组分析对于确定MHL独特的分子特征以及寻找治疗干预的潜在靶点是必要的。
Objective To explore the clinicopathological and molecular genetic features of adult hepatic mesenchymal hamartoma(MHL).Methods 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.Results 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.Conclusion 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.
作者
缑向楠
许伟
董周寰
王湛博
Gou Xiangnan;Xu Wei;Dong Zhouhuan;Wang Zhanbo(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)
出处
《中华肝脏病杂志》
CAS
CSCD
北大核心
2024年第1期58-63,共6页
Chinese Journal of Hepatology
关键词
成人
肝脏间叶性错构瘤
恶性转化
二代测序
Adult
Mesenchymal hamartoma of the liver
Malignant transformation
Next generation sequencing
