Article(id=1208862461973894094, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1208862455166538583, articleNumber=null, orderNo=null, doi=10.11855/j.issn.0577-7402.2021.08.08, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=research-article, receivedDate=1611417600000, receivedDateStr=2021-01-24, revisedDate=1622390400000, revisedDateStr=2021-05-31, acceptedDate=null, acceptedDateStr=null, onlineDate=1766144870513, onlineDateStr=2025-12-19, pubDate=1630080000000, pubDateStr=2021-08-28, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1766144870513, onlineIssueDateStr=2025-12-19, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1766144870513, creator=13701087609, updateTime=1766144870513, updator=13701087609, issue=Issue{id=1208862455166538583, tenantId=1146029695717560320, journalId=1189873630562394117, year='2021', volume='46', issue='8', pageStart='743', pageEnd='848', issueExtLink='null', onlineDate='null', pubDate='null', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=0, createTime=1766144868890, creator=13701087609, updateTime=1766144939527, updator=13701087609, preIssue=null, nextIssue=null, ext={EN=IssueExt(id=1208862751481524455, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1208862455166538583, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1208862751481524456, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1208862455166538583, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null}, startPage=790, endPage=795, ext={EN=ArticleExt(id=1208862462313632741, articleId=1208862461973894094, tenantId=1146029695717560320, journalId=1189873630562394117, language=EN, title=Clinicopathologically comparative analysis of perirenal angiomyolipoma and liposarcoma, columnId=1190310109000602400, journalTitle=Medical Journal of Chinese People’s Liberation Army, columnName=Clinical Research, runingTitle=null, highlight=null, articleAbstract=

Objective To compare the clinicopathological features, differential diagnosis and treatment between perirenal angiomyolipoma (AML) and liposarcoma. Methods Eleven cases of AML and thirty-nine cases of liposarcoma around the kidney from Peking University International Hospital from January 2015 to December 2020 were reviewed in terms of clinical manifestations, imaging examination, pathological morphology, immunophenotype and treatment follow-up. Results The tumors in both groups were close to the kidney, and the imaging signs of renal defect were not distinctive enough to diagnose correctly.Perirenal AML was mainly female (P=0.003), the age of onset was younger than liposarcoma (P<0.001). Most of perirenal AML were single (90.9%, 10/11) and primary (100.0%, 11/11), the histomorphology was mostly accompanied by vascular hyaline degeneration(63.6%, 7/11), and Melan-A and HMB45 were positive by immunohistochemistry. While liposarcoma was often multiple (51.3%,20/39) and recurrent (79.5%, 31/39), Ki-67, P16, CDK4, MDM2 were more highly expressed than AML (P<0.05), and MDM2 gene was amplified. There was no significant difference in the maximum diameter and necrosis between the two groups (P>0.05). Conclusions Retroperitoneal perirenal AML and liposarcoma have similar imaging features, and gender, age, tumor number,primary/recurrent character, histomorphology, protein expression and gene amplification detection are helpful to differentiate them.Liposarcoma needs more extensive resection, active treatment and follow-up.

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目的 对比分析肾周血管平滑肌脂肪瘤(AML)与脂肪肉瘤的临床病理特征及鉴别、诊治要点。方法 回顾性分析2015年1月—2020年12月北京大学国际医院诊治的11例肾周AML及39例肾周脂肪肉瘤的临床表现、影像学检查、病理学形态、免疫表型及治疗随访情况。结果 两组患者肿瘤均紧邻肾脏,影像学肾缺损征不明显,易误诊。肾周AML女性患者占比较脂肪肉瘤高(P=0.003),发病年龄较脂肪肉瘤小(P<0.001)。肾周AML绝大多数单发(90.9%,10/11)、原发(100.0%,11/11),组织形态多伴有血管玻璃样变性(63.6%,7/11),免疫组化表达Melan-A和HMB45;而脂肪肉瘤常多发(51.3%,20/39)、复发(79.5%,31/39),免疫组化Ki-67、P16、CDK4、MDM2较AML高表达(P<0.05),MDM2基因扩增。两组患者肿瘤体积最大径及坏死占比差异无统计学意义(P>0.05)。结论 腹膜后肾周AML与脂肪肉瘤具有相似的影像学特征,性别、年龄、肿瘤数目、原发/复发、组织形态、蛋白表达及基因扩增检测有助于鉴别诊断。脂肪肉瘤需要更广泛的切除、积极治疗并随访。

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刘蕾,硕士研究生,主治医师,主要从事临床病理诊断及肿瘤病理方面的研究

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刘蕾,硕士研究生,主治医师,主要从事临床病理诊断及肿瘤病理方面的研究

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刘蕾,硕士研究生,主治医师,主要从事临床病理诊断及肿瘤病理方面的研究

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AML. 血管平滑肌脂肪瘤;A. 肾周巨大肿物含脂质混杂密度影;B. 肾周巨大椭圆形肿物,富含脂肪,实性,质软

, figureFileSmall=Za05bxTzJ1+vtZrrUSzjEQ==, figureFileBig=eH5zGWg4kmguDxeBls+jEQ==, tableContent=null), ArticleFig(id=1208862468600893712, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1208862461973894094, language=EN, label=Fig.2, caption=Microscopic findings of immunohistochemical staining and hybridization in situ for AML, figureFileSmall=qCn/5SltShbEVSaeB8PhAg==, figureFileBig=DtTfINJhO25/dICMGtokpg==, tableContent=null), ArticleFig(id=1208862468722528534, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1208862461973894094, language=CN, label=图2, caption=AML的HE染色、免疫组化染色及原位杂交镜下表现

AML. 血管平滑肌脂肪瘤;A. AML由成熟脂肪、血管、平滑肌组成(HE ×100);B. HMB45灶性胞质表达(免疫组化EnVision法×100);C. Melan-A弥漫胞质表达(免疫组化EnVision法 ×100);D. MDM2基因未见扩增(FISH检测)

, figureFileSmall=qCn/5SltShbEVSaeB8PhAg==, figureFileBig=DtTfINJhO25/dICMGtokpg==, tableContent=null), ArticleFig(id=1208862468852551963, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1208862461973894094, language=EN, label=Tab.1, caption=

Clinicopathological comparative analysis of perirenal AML and liposarcoma

, figureFileSmall=null, figureFileBig=null, tableContent=
项目AML组(n=11)脂肪肉瘤组(n=39)P
性别(男/女)[例(%)]a1(9.1)/10(90.9)23(59.0)/16(41.0)0.003
年龄(岁,$\bar{x}±s$)b37.5±12.257.6±10.9<0.001
单发/多发[例(%)]a10(90.9)/1(9.1)19(48.7)/20(51.3)0.031
肿瘤体积最大径[cm, M(Q1, Q3)]c18(12, 19)20(15, 27)0.124
原发/复发[例(%)]a11(100.0)/08(20.5)/31(79.5)<0.001
Ki-67[%, M(Q1, Q3)]c1(1, 3)20(10, 20)<0.001
P16(阳性/阴性)[例(%)]d6(66.7)/3(33.3)36(100.0)/00.006
CDK4(阳性/阴性)[例(%)]d5(55.6)/4(44.4)36(100.0)/00.001
MDM2(阳性/阴性)[例(%)]a2(22.2)/7(77.8)31(86.1)/5(13.9)0.001
坏死(阳性/阴性)[例(%)]a1(9.1)/10(90.9)14(35.9)/25(64.1)0.336
血管壁玻璃样变性(阳性/阴性)[例(%)]a7(63.6)/4(36.4)0/39(100.0)<0.001
), ArticleFig(id=1208862468961603875, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1208862461973894094, language=CN, label=表1, caption=

肾周AML与脂肪肉瘤的临床病理对比分析

, figureFileSmall=null, figureFileBig=null, tableContent=
项目AML组(n=11)脂肪肉瘤组(n=39)P
性别(男/女)[例(%)]a1(9.1)/10(90.9)23(59.0)/16(41.0)0.003
年龄(岁,$\bar{x}±s$)b37.5±12.257.6±10.9<0.001
单发/多发[例(%)]a10(90.9)/1(9.1)19(48.7)/20(51.3)0.031
肿瘤体积最大径[cm, M(Q1, Q3)]c18(12, 19)20(15, 27)0.124
原发/复发[例(%)]a11(100.0)/08(20.5)/31(79.5)<0.001
Ki-67[%, M(Q1, Q3)]c1(1, 3)20(10, 20)<0.001
P16(阳性/阴性)[例(%)]d6(66.7)/3(33.3)36(100.0)/00.006
CDK4(阳性/阴性)[例(%)]d5(55.6)/4(44.4)36(100.0)/00.001
MDM2(阳性/阴性)[例(%)]a2(22.2)/7(77.8)31(86.1)/5(13.9)0.001
坏死(阳性/阴性)[例(%)]a1(9.1)/10(90.9)14(35.9)/25(64.1)0.336
血管壁玻璃样变性(阳性/阴性)[例(%)]a7(63.6)/4(36.4)0/39(100.0)<0.001
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肾周血管平滑肌脂肪瘤与脂肪肉瘤的临床病理对比分析
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刘蕾 1 , 刘世博 2 , 王丽华 1 , 任玉波 1 , 饶晓松 1
解放军医学杂志 | 临床研究 2021,46(8): 790-795
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解放军医学杂志 | 临床研究 2021, 46(8): 790-795
肾周血管平滑肌脂肪瘤与脂肪肉瘤的临床病理对比分析
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刘蕾1, 刘世博2, 王丽华1, 任玉波1, 饶晓松1
作者信息
  • 1北京大学国际医院病理科,北京 102206
  • 2北京大学国际医院腹膜后肿瘤外科,北京 102206
  • 刘蕾,硕士研究生,主治医师,主要从事临床病理诊断及肿瘤病理方面的研究

Clinicopathologically comparative analysis of perirenal angiomyolipoma and liposarcoma
Lei Liu1, Shi-Bo Liu2, Li-Hua Wang1, Yu-Bo Ren1, Xiao-Song Rao1
Affiliations
  • 1Department of Pathology, Peking University International Hospital, Beijing 102206, China
  • 2Department of Retroperitoneal Tumor Surgery, Peking University International Hospital, Beijing 102206, China
出版时间: 2021-08-28 doi: 10.11855/j.issn.0577-7402.2021.08.08
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目的 对比分析肾周血管平滑肌脂肪瘤(AML)与脂肪肉瘤的临床病理特征及鉴别、诊治要点。方法 回顾性分析2015年1月—2020年12月北京大学国际医院诊治的11例肾周AML及39例肾周脂肪肉瘤的临床表现、影像学检查、病理学形态、免疫表型及治疗随访情况。结果 两组患者肿瘤均紧邻肾脏,影像学肾缺损征不明显,易误诊。肾周AML女性患者占比较脂肪肉瘤高(P=0.003),发病年龄较脂肪肉瘤小(P<0.001)。肾周AML绝大多数单发(90.9%,10/11)、原发(100.0%,11/11),组织形态多伴有血管玻璃样变性(63.6%,7/11),免疫组化表达Melan-A和HMB45;而脂肪肉瘤常多发(51.3%,20/39)、复发(79.5%,31/39),免疫组化Ki-67、P16、CDK4、MDM2较AML高表达(P<0.05),MDM2基因扩增。两组患者肿瘤体积最大径及坏死占比差异无统计学意义(P>0.05)。结论 腹膜后肾周AML与脂肪肉瘤具有相似的影像学特征,性别、年龄、肿瘤数目、原发/复发、组织形态、蛋白表达及基因扩增检测有助于鉴别诊断。脂肪肉瘤需要更广泛的切除、积极治疗并随访。

腹膜后肿瘤  /  肾周  /  血管平滑肌脂肪瘤  /  脂肪肉瘤  /  临床病理

Objective To compare the clinicopathological features, differential diagnosis and treatment between perirenal angiomyolipoma (AML) and liposarcoma. Methods Eleven cases of AML and thirty-nine cases of liposarcoma around the kidney from Peking University International Hospital from January 2015 to December 2020 were reviewed in terms of clinical manifestations, imaging examination, pathological morphology, immunophenotype and treatment follow-up. Results The tumors in both groups were close to the kidney, and the imaging signs of renal defect were not distinctive enough to diagnose correctly.Perirenal AML was mainly female (P=0.003), the age of onset was younger than liposarcoma (P<0.001). Most of perirenal AML were single (90.9%, 10/11) and primary (100.0%, 11/11), the histomorphology was mostly accompanied by vascular hyaline degeneration(63.6%, 7/11), and Melan-A and HMB45 were positive by immunohistochemistry. While liposarcoma was often multiple (51.3%,20/39) and recurrent (79.5%, 31/39), Ki-67, P16, CDK4, MDM2 were more highly expressed than AML (P<0.05), and MDM2 gene was amplified. There was no significant difference in the maximum diameter and necrosis between the two groups (P>0.05). Conclusions Retroperitoneal perirenal AML and liposarcoma have similar imaging features, and gender, age, tumor number,primary/recurrent character, histomorphology, protein expression and gene amplification detection are helpful to differentiate them.Liposarcoma needs more extensive resection, active treatment and follow-up.

retroperitoneal neoplasms  /  perirenal  /  angiomyolipoma  /  liposarcoma  /  clinicopathology
刘蕾, 刘世博, 王丽华, 任玉波, 饶晓松. 肾周血管平滑肌脂肪瘤与脂肪肉瘤的临床病理对比分析. 解放军医学杂志, 2021 , 46 (8) : 790 -795 . DOI: 10.11855/j.issn.0577-7402.2021.08.08
Lei Liu, Shi-Bo Liu, Li-Hua Wang, Yu-Bo Ren, Xiao-Song Rao. Clinicopathologically comparative analysis of perirenal angiomyolipoma and liposarcoma[J]. Medical Journal of Chinese People’s Liberation Army, 2021 , 46 (8) : 790 -795 . DOI: 10.11855/j.issn.0577-7402.2021.08.08
血管平滑肌脂肪瘤(angiomyolipoma,AML)属于血管周上皮样肿瘤,组织成分包括不同比例的成熟脂肪组织、平滑肌及厚壁血管,多发生于肾内,巨大外生性肾AML及腹膜后肾外AML少见。脂肪肉瘤是恶性脂肪细胞性肿瘤,腹膜后常见。影像学检查表现为累及肾脂肪囊(简称肾周)且含脂肪的巨大肿物时,需要注意区分AML与脂肪肉瘤。由于二者均具有脂肪成分,术前极易误诊,能否准确鉴别诊断尤为重要,可直接影响治疗方式及预后。本研究回顾性分析11例肾周AML及39例肾周脂肪肉瘤的临床表现、影像学检查、病理学形态、免疫表型及治疗随访情况,以期提高鉴别诊断的准确率并加强对治疗、预后的认识。
收集2015年1月—2020年12月北京大学国际医院影像学检查表现为肾周含脂肪肿物且经术后病理证实的11例肾周AML与39例肾周脂肪肉瘤患者的临床资料。排除并发其他类型恶性肿瘤者及临床资料不完整者。
肿瘤组织标本用4%多聚甲醛溶液固定,常规取材、石蜡包埋、切片(厚4 μm),行HE染色,光学显微镜下观察组织病理学变化。
肿瘤组织切片经二甲苯脱蜡、梯度乙醇脱水,高压锅修复2.5 min,3%过氧化氢中消除内源过氧化物酶活性,PBS缓冲液洗涤;加入一抗Ki-67(1:200)、P16(1:200)、CDK4(1:200)、MDM2(1:200)、Melan-A(1:200)、HMB45(1:200)、SMA(1:200)、Desmin(1:200)、Myogenin(1:200)、MyoD1(1:200),37 ℃孵育60 min,PBS缓冲液洗涤;加入二抗37 ℃孵育30 min,DAB显色,HE复染,漂洗、封片,显微镜下观察,棕黄色为染色阳性。所用工作液及抗体均购自北京中杉金桥生物技术有限公司。
肿瘤组织蜡块切片(厚4 μm),经二甲苯脱蜡、梯度乙醇脱水后,38 ℃下胃蛋白酶消化20 min,梯度乙醇脱水,加入MDM2/CEN12双色荧光探针(美国Vysis公司),杂交仪过夜,缓冲液洗涤,滴加DAPI,封片,于荧光显微镜下观察。
使用SPSS 22.0软件进行统计分析。计数资料以率(%)表示,组间比较采用χ2检验或Fisher确切概率法;正态分布的计量资料以$\bar{x}±s$表示,非正态分布的计量资料以中位数M(Q1Q3)表示,组间比较采用t检验或Wilcoxon秩和检验。P<0.05为差异有统计学意义。
11例AML患者中,男1例,女10例,年龄20~56(37.5±12.2)岁;均为原发,病程半个月至7年。7例(63.6%)因腹部疼痛、腹胀就诊,4例(36.4%)为体检发现。1例(9.1%)为双侧双发,10例(90.9%)为单侧单发。2例(18.2%)为腹膜后AML,9例(81.8%)为外生性肾AML。
39例脂肪肉瘤患者中,男23例,女16例,年龄32~78(57.6±10.9)岁,病程1~7个月。8例(20.5%)为原发(其中3例因腹部疼痛、腹胀就诊,3例为体检发现,2例自行扪及腹部包块就诊),31例(79.5%)为复发。19例(48.7%)为单发,20例(51.3%)肿瘤数目2~5枚不等。
AML及脂肪肉瘤术前影像增强扫描脂肪成分未见明显强化,软组织成分呈不均匀强化,肿物毗邻肾实质边缘的侵犯征象不明显(图1A)。
AML大体标本呈类椭圆或分叶状,最大径8~27 cm;覆部分或完整包膜,灰黄、实性、质软(图1B)。镜下肿瘤由脂肪、平滑肌、血管构成(图2A),10例(90.9%)脂肪成分大于80%,细胞异型性轻,核分裂象罕见,未见坏死;平滑肌成分呈片灶状穿插于脂肪间或在血管壁周围呈放射状分布。1例(9.1%)腹膜后肾外AML平滑肌细胞呈弥漫巢片状上皮样,约占肿瘤成分的90%,胞质丰富、嗜酸,细胞核不规则,可见多核,核仁明显,核分裂象约4个/10高倍视野,伴小灶状坏死、出血囊性变,未见脉管瘤栓及肾实质侵犯。7例(63.6%)伴血管壁玻璃样变性。肿瘤并全肾/部分肾切除标本中,2例(18.2%)腹膜后肾外AML未侵犯肾实质,4例(36.4%)外生性AML肾内占位深度小于0.5 mm。
脂肪肉瘤大体标本呈类椭圆或分叶状,最大径9~35 cm;覆部分或完整包膜,灰黄间灰白,实性、质软。28例(71.8%)为去分化脂肪肉瘤[去分化成分包括22例(78.6%)纤维肉瘤,5例(17.9%)多形性未分化肉瘤,1例(3.6%)横纹肌分化表达Myogenin、MyoD1,1例(3.6%)软骨分化],11例(28.2%)为高分化脂肪肉瘤,可见异型的脂肪细胞及间质细胞,散在泡状脂母细胞。14例(35.9%)伴局灶坏死,其中1例同时伴有钙化。5例(12.8%)肿瘤累及肾纤维膜,3例(7.7%)累及肾实质,深度小于0.5 mm。1例(2.6%)并发肾脏乳头状腺瘤,直径0.2 cm;1例(2.6%)并发肾内AML,直径1.0 cm。
免疫组化检测结果显示,11例(100.0%)AML患者的HMB45和Melan-A均呈灶性/弥漫表达(图2B、C),SMA和Desmin平滑肌细胞表达,上皮样区域不表达Myogenin、MyoD1。P16:1例弥漫阳性,5例局灶阳性,3例阴性。CDK4:5例局灶阳性,3例阴性。MDM2:1例弥漫阳性,1例局灶阳性,7例阴性。Ki-67增殖指数1%~10%。
36例(92.3%)脂肪肉瘤患者的P16和CDK4均呈弥漫阳性。MDM2:11例(28.2%)弥漫阳性,20例(51.3%)局灶阳性,5例(12.8%)阴性。Ki-67增殖指数3%~40%。
FISH检测结果显示,2例脂肪为主型AML患者的MDM2基因未见扩增,不支持高分化/去分化脂肪肉瘤(图2D)。
2例(5.1%)原发脂肪肉瘤患者的MDM2基因可见扩增,支持高分化/去分化脂肪肉瘤。
AML患者以女性为主,两组性别差异有统计学意义(P=0.003);AML发病年龄较脂肪肉瘤小,差异有统计学意义(P<0.001);AML绝大多数为原发、单发,多伴有血管玻璃样变性;而脂肪肉瘤常为多发、复发,免疫组化染色Ki-67、P16、CDK4、MDM2较AML高表达(P<0.05)。两组患者肿瘤最大径、坏死占比差异无统计学意义(P>0.05)(表1)。
AML患者中,5例(45.5%)行肿瘤剜除,3例(27.3%)行肿瘤及部分肾切除,3例(27.3%)因肿瘤广泛包绕肾脏不易相互分离而切除全肾。随访22~42个月,均无复发和转移。
脂肪肉瘤患者中,8例(20.5%)因肿瘤包绕肾脏、6例(15.4%)因肾功能不全而行肿瘤及全肾切除。1例(2.6%)并发肾内AML行部分肾切除。8例(20.5%)术前/术后辅助放疗和(或)化疗。15例(38.5%)术后1~30个月再次复发。
腹膜后间隙前由腹膜覆盖,后为后腹壁的腰髂部分,包括肾上腺、肾脏、输尿管、主动脉及其分支、下腔静脉及其分支。AML和脂肪肉瘤是腹膜后两种具有代表性的肿瘤,因其脂肪成分可能相互误诊,尤其当肾周出现巨大脂肪肿块时,二者更容易混淆。AML根据有无肾动脉供血而分为肾AML和肾外AML,外生性肾AML和腹膜后肾外AML较肾内AML少见。本组肾周AML病例中,2例为腹膜后肾外AML,9例为外生性肾AML。脂肪肉瘤是常见的原发性腹膜后恶性肿瘤,组织学亚型主要包括高分化脂肪肉瘤、去分化脂肪肉瘤、黏液样脂肪肉瘤和多形性脂肪肉瘤,其中大部分为高分化、去分化脂肪肉瘤。本组脂肪肉瘤病例均为高分化、去分化脂肪肉瘤。
世界卫生组织定义肾脏AML为生物学良性肿瘤,多发于中青年女性。有研究发现,腹膜后肾外AML亦多发于女性[1]。而脂肪肉瘤为生物学恶性肿瘤,多发于中老年人群,无明显性别差异。有学者比较肾周AML和脂肪肉瘤,发现二者的性别差异无统计学意义[2-3],但本组肾周AML病例男∶女为1∶10,女性居多,且发病年龄较肾周脂肪肉瘤小。两组患者均无特异性临床表现,既往病史显示复发的脂肪肉瘤占比明显高于AML,有助于这两种肿瘤的鉴别。
计算机断层扫描(CT)/磁共振成像(MRI)检查可发现无症状患者,并了解肿物大小及其与周围的关系,以指导手术方案的制定和术后监测。肾周AML和脂肪肉瘤均表现为肾周含脂肪的肿块,显示低密度脂肪成分;此外,AML中有血管及平滑肌成分,高分化/去分化脂肪肉瘤中有纤维、肌、软骨等软组织成分,所以两种肿瘤均可呈现多少不等的灶性软组织密度影。国内外影像专业学者对多项指标进行对比分析发现,两种肿瘤楔形占位导致的肾脏缺损征及扩张的血管频数差异有统计学意义,而钙化、肾移位等征象无统计学差异[2-4]。但本组肾周AML和脂肪肉瘤体积均较大,扩张血管区别不明显,且瘤体在肾内占位极浅表(显微镜下测量深度小于0.5 mm)、影像学“楔形征”不典型。既往研究比较的肾周AML和脂肪肉瘤病例中罕见腹膜后肾外AML,而本组2例腹膜后肾外AML经术后病理检查无肾实质累及,增加了术前鉴别诊断的难度。本组仅1例术前影像诊断根据所见肾动脉供血考虑为AML,其余均误诊为脂肪肉瘤。因此,影像学检查需要足够薄的切片厚度和对多平面重建图像足够仔细的评估才能够做出准确的术前判断。
术前影像学检查区别肾周AML与脂肪肉瘤确有困难,术前肿瘤穿刺活检或术中冷冻切片快速诊断因取材局限、观察欠全面而需要重复取材评估[5]。确诊主要依靠术后病理检查并结合免疫组化检测。AML组织形态分为典型的AML和上皮样AML。2016版世界卫生组织肿瘤分类首次将上皮样AML中上皮样细胞成分比例定义为至少80%以上,上皮样AML具有潜在恶性,可以复发或转移,但恶性标准尚未界定和统一,主要评价指标包括细胞异型性、核分裂象、坏死、远处转移等[6-8]。本组仅1例上皮样AML位于腹膜后肾外,细胞异型性较高,核分裂象约4个/10高倍视野,伴灶状坏死,虽未见脉管瘤栓及肾实质侵犯,但具有恶性潜能的形态表现,尚未达到远处转移的恶性诊断。其余10例均为典型AML,成熟脂肪组织占大部分,血管可见玻璃样变性。血管玻璃样变性在本组脂肪肉瘤标本中未发现,可作为肾周AML与脂肪肉瘤的鉴别提示。与AML比较,脂肪肉瘤增殖指数较高、肿瘤生长较快、病程相对较短,但两组肿瘤的体积并无明显差异,随之伴发的肿瘤坏死占比约为36%,而肾周AML中仅1例(9.1%)恶性潜能的上皮样AML有灶状坏死。因此从生物学行为角度来看,坏死对鉴别及评估这两种肿瘤有一定参考价值。
AML免疫组化检测通常表达黑色素及平滑肌标志物,本组黑色素标记HMB45和Melan-A、平滑肌标记SMA和(或)Desmin均呈灶性/弥漫表达,且以灶性表达为主;无横纹肌或软骨成分。而脂肪肉瘤不表达HMB45、Melan-A[9],在去分化区可少量肌性表达,或有横纹肌、软骨等异源分化。两种肿瘤均可表达P16、CDK4、MDM2,但AML中的表达范围常较脂肪肉瘤小[9],在实际临床中发现AML表达强度较脂肪肉瘤弱。值得注意的是,Inoue等[10]发现,原发性肾上皮样AML肿瘤MDM2蛋白呈阴性表达,但在转移/复发的各个阶段MDM2蛋白的表达呈逐步增强的趋势,提示MDM2在上皮样AML复发转移的分子机制中起着重要作用。联合检测HMB45、Melan-A、MDM2、CDK4、P16更有利于避免误诊[9,11]
遗传学方面,高分化/去分化脂肪肉瘤具有特征性环形或巨大标记染色体,这些染色体由12q13-21扩增形成,导致MDM2、CDK4、cpm等基因扩增。在条件允许的情况下,FISH检测有助于进一步诊断。本组2例AML MDM2基因未见扩增,不支持高分化/去分化脂肪肉瘤,而2例脂肪肉瘤MDM2基因可见扩增。Parekh等[12]发现,1例肾门处外生性AML肿块侵犯右肾静脉并延伸至肝下腔静脉,局灶细胞异型性和多空泡细胞类似于非典型脂肪瘤性肿瘤/高分化脂肪肉瘤,但cpm基因检测未发现扩增,排除了脂肪肉瘤转化,术后2年无复发或转移的迹象,进一步证实了良性诊断。目前尚无文献报道AML具有明确的脂肪肉瘤转化的分子畸变。但本组有1例肾周脂肪肉瘤和肾内AML共存的病例,属首例报道。
AML多为孤立性肿瘤,多发病例要注意排查结节性硬化症(tuberous sclerosis compex,TSC)。TSC是一种累及皮肤、神经等多个器官系统的常染色体显性遗传性疾病,多数患者伴有多中心、双侧肾脏肿瘤[13]。本组仅1例为左右肾双侧双发AML,临床对皮肤及中枢神经等系统进行全面检查,不支持TSC。而脂肪肉瘤可单发也可多发,本组脂肪肉瘤病例中单发、多发病例约各占一半,与AML有统计学差异。此外,腹膜后其他含脂肪肿瘤亦需排除,如畸胎瘤除脂肪外,应注意寻找毛发、牙齿、骨等其他成分,肾上腺髓样脂肪瘤多发生于中老年人群,除脂肪外还有造血成分。
AML生物学行为多呈良性,切除后随访7~8年无复发、转移[14],肿物剜除或局部肾切除术可尽量保留正常肾组织,对保护患者的肾功能有重要意义。非手术治疗方法包括消融术、选择性血管栓塞术,而靶向mTOR抑制剂等可控制肿瘤生长[15],抗PD-1的免疫治疗也可有效抑制肾脏上皮样AML[16]。但鉴于本组AML的体积大,患者均首选手术切除,随访期内未见复发、转移。腹膜后脂肪肉瘤有较高的复发风险,需要更广泛的切除和积极治疗[17]。即使肾脏全切及配合放化疗,本组仍有近40%(15/39)的复发率。由此可见,两种肿瘤的管理方式和预后明显不同。
综上所述,本研究结果表明,肾周AML和脂肪肉瘤术前影像学检查因具有相似的低密度脂肪成分、肾缺损征不明显而极易误诊,可参考患者的性别、年龄、肿瘤数目、原发/复发情况,组织学血管壁玻璃样变性,Ki-67、Melan-A、HMB45、P16、CDK4、MDM2蛋白表达及基因扩增等以辅助鉴别诊断,指导临床治疗和预后评估。
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2021年第46卷第8期
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doi: 10.11855/j.issn.0577-7402.2021.08.08
  • 接收时间:2021-01-24
  • 首发时间:2025-12-19
  • 出版时间:2021-08-28
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  • 收稿日期:2021-01-24
  • 修回日期:2021-05-31
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    1北京大学国际医院病理科,北京 102206
    2北京大学国际医院腹膜后肿瘤外科,北京 102206
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鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78
小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39
多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39
红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87
小菇属 Mycena 11 5.26
光柄菇属 Pluteus 5 2.39
红菇属 Russula 17 8.13
栓菌属 Trametes 5 2.39
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