5例肝脏上皮样血管平滑肌脂肪瘤患者的临床病理资料分析
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摘要
目的总结肝脏上皮样血管平滑肌脂肪瘤(hepatic epithelioid angiomyolipoma,HEAML)的临床病理和免疫表型特征并探讨其诊断与鉴别诊断方法。方法回顾性分析2011年8月至2017年12月期间淮安市第一人民医院病理科外科活检的5例HEAML患者的临床和影像学表现、病理学形态及免疫组织化学特征。结果 5例患者中男2例,女3例;年龄38～64岁,平均50岁。肝脏左叶肿瘤2例,右叶肿瘤3例。术前影像学检查有3例诊断为肝癌,有2例诊断为肝脏错构瘤和(或)血管瘤。肿瘤直径1.5～7.0 cm,平均3.6 cm。镜下肿瘤由较多上皮样平滑肌细胞、薄壁血管及少量脂肪混杂而成。免疫组织化学检测结果见melan-A、 HMB45及SMA均阳性,HepPar-1、AE1/AE3、EMA、CD117、Dog-1、CD10、CgA、Syn和Desmin均阴性, Ki-67增殖指数2%～10%。患者随访2～76个月(平均31.4个月),均无瘤存活,无一例复发或转移。结论 HEAML是肝脏少见的原发性间叶性肿瘤,应避免术前、术后病理检查中将其误判为肝脏其他良恶性肿瘤,影响临床处理及治疗,结合组织形态及免疫组织化学染色结果可进行诊断及鉴别诊断。
Objective To summarize clinicopathologic and immunophenotypic features of hepatic epithelioid angiomyolipoma(HEAML) and to explore its diagnostic and differential diagnostic methods. Method The clinical and imaging manifestations, pathological morphology and immunohistochemical features of 5 patients with HEAML from August 2011 to December 2017 in this hospital were retrospectively analyzed. Results There were 2 males and 3 females in the 5 patients with HEAML, aged 38–64 years with an average age of 50 years. There were 2 cases of the left lobe tumors and 3 cases of the right lobe tumors. Three cases were diagnosed as the hepatocellular carcinoma and the other two cases were diagnosed as the hepatic hamartoma and(or) hemangioma by the preoperative imaging examination.The diameter of tumors ranged from 1.5 cm to 7.0 cm, with an average of 3.6 cm. Microscopically, the tumors were composed of more epithelioid smooth muscle cells, parenchyma vessels and a small amount of fat. The immunohistochemical results showed that the melan-A, HMB45, and SMA were positive, while the HepPar-1,AE1/AE3, EMA, CD117, Dog-1, CD10, CgA, Syn, and Desmin were negative. The Ki-67 proliferation index was2%–10%. The patients were all alive without the tumor recurrence after following up for 2–76 months with an average of 31.4 months. Conclusions HEAML is a rare primary mesenchymal tumor of liver, which should be misdiagnosed for other benign or malignant tumors for influencing clinical treatment. Diagnosis and differential diagnosis can be made by histopathology and immunohistochemical staining.
Objective To summarize clinicopathologic and immunophenotypic features of hepatic epithelioid angiomyolipoma(HEAML) and to explore its diagnostic and differential diagnostic methods. Method The clinical and imaging manifestations, pathological morphology and immunohistochemical features of 5 patients with HEAML from August 2011 to December 2017 in this hospital were retrospectively analyzed. Results There were 2 males and 3 females in the 5 patients with HEAML, aged 38–64 years with an average age of 50 years. There were 2 cases of the left lobe tumors and 3 cases of the right lobe tumors. Three cases were diagnosed as the hepatocellular carcinoma and the other two cases were diagnosed as the hepatic hamartoma and(or) hemangioma by the preoperative imaging examination.The diameter of tumors ranged from 1.5 cm to 7.0 cm, with an average of 3.6 cm. Microscopically, the tumors were composed of more epithelioid smooth muscle cells, parenchyma vessels and a small amount of fat. The immunohistochemical results showed that the melan-A, HMB45, and SMA were positive, while the HepPar-1,AE1/AE3, EMA, CD117, Dog-1, CD10, CgA, Syn, and Desmin were negative. The Ki-67 proliferation index was2%–10%. The patients were all alive without the tumor recurrence after following up for 2–76 months with an average of 31.4 months. Conclusions HEAML is a rare primary mesenchymal tumor of liver, which should be misdiagnosed for other benign or malignant tumors for influencing clinical treatment. Diagnosis and differential diagnosis can be made by histopathology and immunohistochemical staining.
引文
1 Ishak KG.Mesenchymal tumors of the liver//Okuda K,Peters RL.Hepatocellular Carcinoma.New York:John Wiley,1976.
2 Chen W,Liu Y,Zhuang Y,et al.Hepatic perivascular epithelioid cell neoplasm:A clinical and pathological experience in diagnosis and treatment.Mol Clin Oncol,2017,6(4):487-493.
3 Hornick JL,Fletcher CD. PEComa:what do we know so far?Histopathology,2006,48(1):75-82.
4 Im S,Yoo C,Jung JH,et al.Primary perivascular epithelioid cell tumor in the rectum:a case report and review of the literature.Pathol Res Pract,2013,209(4):244-248.
5 Yu D,Tang S.Hepatic perivascular epithelioid cell tumor:a case report and review of the literature.Intern Med,2013,52(12):1333-1336.
6 Kamimura K,Nomoto M,Aoyagi Y.Hepatic angiomyolipoma:diagnostic findings and management.Int J Hepatol,2012,2012:410781.
7 Lu HC,Chau GY,Su CW.Clinical challenges and images in GI.Diagnosis:Hepatic angiomyolipoma mimicking hepatocellular carcinoma.Gastroenterology,2009,136(4):1169,1464.
8刘露,鲁亚,刘曦娇,等肝上皮样血管内皮细胞瘤的影像学表现中国普外基础与临床杂志,2018,25(2):229-234
9Liu J. Zhang CW. Hong DF, et al. Primary hepatic epithelioid angiomyolipoma:A malignant potential tumor which should be recognized., 2016, 22(20):4908-4917.
10Flemming P, Lehmann U, Becker T, et al. ColIlmon and epithelioid variants of hepatic angiomyolipoma exhibit clonal growth and share a distinctive immunophenotype.Hepatology, 2000, 32(2):213-217.
11Yang X. Li A, Wu M. Hepatic angiomyolipoma:clinical, imaging and pathological features in 178 cases.. 2013, 30(1):416.
12路涛,周翔平,姜兴莲,等肝血管平滑肌脂肪瘤的影像学表现及其诊断(附3报道)中国普外基础与临床杂志,2010,1,(8):860-864.
13Xu AM, Zhang SH, Zheng JM, et al. Pathological and molecular analysis of sporadic hepatic angiomyolipoma.Hum Pathol, 2006,37(6):735-741.
14Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol,2010,34(10):1395-1406.
15 Jimbo N, Nishigami T, Noguchi M, et al. Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations.Hum Pathol, 2017, 61:41-48.
16Nguyen TT, Gorman B, Shields D, et al. Malignant hepatic angiomyolipoma:report of a case and review of literature.Surg Pathol. 2008, 32(5):793-798.
17Klompenhouwer AJ. Verver D, Janki S, et al. Management of hepatic angiomyolipoma:A systematic review. Liver Int,2017,37(9):1272-1280.
18Brimo F, Robinson B, Guo C, et al. Renal epithelioid angiomyolipoma with atypia:a series of 40 cases with emphasis on clinicopathologic prognostic indicators of malignancy. Am J Surg Pathol, 2010, 34(5):715-722.
19Folpe AL. Mentzel T. Lehr HA, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin:a clinicopathologic study of 26 cases and review of the literature.Am J Surg Pathol,2005, 29(12):1558-1575.
20Huang SC, Chuang HC, Chen TD, et al. Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSCl/TSC2.Histopathology, 2015. 66(5):695-705.
21Agaram NP, Sung YS, Zhang L, et al. Dichotomy of genetic abnormalities in PEComas with therapeutic implications.Am J surg Pathol. 2015, 39(6):813-825.
22Italiano A, Delcambre C, Hostein I, et al. Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa.Ann Oncol, 2010, 21(5):1135-1137.
2 Chen W,Liu Y,Zhuang Y,et al.Hepatic perivascular epithelioid cell neoplasm:A clinical and pathological experience in diagnosis and treatment.Mol Clin Oncol,2017,6(4):487-493.
3 Hornick JL,Fletcher CD. PEComa:what do we know so far?Histopathology,2006,48(1):75-82.
4 Im S,Yoo C,Jung JH,et al.Primary perivascular epithelioid cell tumor in the rectum:a case report and review of the literature.Pathol Res Pract,2013,209(4):244-248.
5 Yu D,Tang S.Hepatic perivascular epithelioid cell tumor:a case report and review of the literature.Intern Med,2013,52(12):1333-1336.
6 Kamimura K,Nomoto M,Aoyagi Y.Hepatic angiomyolipoma:diagnostic findings and management.Int J Hepatol,2012,2012:410781.
7 Lu HC,Chau GY,Su CW.Clinical challenges and images in GI.Diagnosis:Hepatic angiomyolipoma mimicking hepatocellular carcinoma.Gastroenterology,2009,136(4):1169,1464.
8刘露,鲁亚,刘曦娇,等肝上皮样血管内皮细胞瘤的影像学表现中国普外基础与临床杂志,2018,25(2):229-234
9Liu J. Zhang CW. Hong DF, et al. Primary hepatic epithelioid angiomyolipoma:A malignant potential tumor which should be recognized., 2016, 22(20):4908-4917.
10Flemming P, Lehmann U, Becker T, et al. ColIlmon and epithelioid variants of hepatic angiomyolipoma exhibit clonal growth and share a distinctive immunophenotype.Hepatology, 2000, 32(2):213-217.
11Yang X. Li A, Wu M. Hepatic angiomyolipoma:clinical, imaging and pathological features in 178 cases.. 2013, 30(1):416.
12路涛,周翔平,姜兴莲,等肝血管平滑肌脂肪瘤的影像学表现及其诊断(附3报道)中国普外基础与临床杂志,2010,1,(8):860-864.
13Xu AM, Zhang SH, Zheng JM, et al. Pathological and molecular analysis of sporadic hepatic angiomyolipoma.Hum Pathol, 2006,37(6):735-741.
14Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol,2010,34(10):1395-1406.
15 Jimbo N, Nishigami T, Noguchi M, et al. Hepatic angiomyolipomas may overexpress TFE3, but have no relevant genetic alterations.Hum Pathol, 2017, 61:41-48.
16Nguyen TT, Gorman B, Shields D, et al. Malignant hepatic angiomyolipoma:report of a case and review of literature.Surg Pathol. 2008, 32(5):793-798.
17Klompenhouwer AJ. Verver D, Janki S, et al. Management of hepatic angiomyolipoma:A systematic review. Liver Int,2017,37(9):1272-1280.
18Brimo F, Robinson B, Guo C, et al. Renal epithelioid angiomyolipoma with atypia:a series of 40 cases with emphasis on clinicopathologic prognostic indicators of malignancy. Am J Surg Pathol, 2010, 34(5):715-722.
19Folpe AL. Mentzel T. Lehr HA, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin:a clinicopathologic study of 26 cases and review of the literature.Am J Surg Pathol,2005, 29(12):1558-1575.
20Huang SC, Chuang HC, Chen TD, et al. Alterations of the mTOR pathway in hepatic angiomyolipoma with emphasis on the epithelioid variant and loss of heterogeneity of TSCl/TSC2.Histopathology, 2015. 66(5):695-705.
21Agaram NP, Sung YS, Zhang L, et al. Dichotomy of genetic abnormalities in PEComas with therapeutic implications.Am J surg Pathol. 2015, 39(6):813-825.
22Italiano A, Delcambre C, Hostein I, et al. Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa.Ann Oncol, 2010, 21(5):1135-1137.