分享:
分享到微信朋友圈
X
病例报告
腺泡状软组织肉瘤的临床病理及影像分析:附5例报道并文献复习
程秀 刘光耀 张静 王瑾 李佳辰

Cite this article as: Cheng X, Liu GY, Zhang J, et al. Clinicopathological and imaging analysis of alveolar soft part sarcoma: Five cases and literature review[J]. Chin J Magn Reson Imaging, 2022, 13(5): 132-135.本文引用格式:程秀, 刘光耀, 张静, 等. 腺泡状软组织肉瘤的临床病理及影像分析:附5例报道并文献复习[J]. 磁共振成像, 2022, 13(5): 132-135. DOI:10.12015/issn.1674-8034.2022.05.027.


[摘要] 本文为回顾性研究,经过兰州大学第二医院医学伦理委员会批准,免除受试者知情同意,批准文号:2021A-489。
[关键词] 腺泡状软组织肉瘤;转移;磁共振成像;体层摄影术;CT血管造影;临床病理;鉴别诊断
[Keywords] alveolar soft part sarcoma;metastasis;magnetic resonance imaging;tomography;computed tomographic angiography;clinicopathological;differential diagnosis

程秀 1, 2   刘光耀 1   张静 1*   王瑾 1, 2   李佳辰 1, 2  

1 兰州大学第二医院核磁共振科,兰州 730030

2 兰州大学第二临床医学院,兰州 730000

张静,E-mail:lztong2001@163.com

作者利益冲突声明:全部作者均声明无利益冲突。


基金项目: 国家自然科学基金地区基金项目 81960309 兰州市城关区科技局人才创新创业项目 2020RCCX0034 兰州大学第二医院“萃英科技创新”计划 CY2018-QN03
收稿日期:2021-08-24
接受日期:2022-04-08
中图分类号:R445.2  R738.6 
文献标识码:B
DOI: 10.12015/issn.1674-8034.2022.05.027
本文引用格式:程秀, 刘光耀, 张静, 等. 腺泡状软组织肉瘤的临床病理及影像分析:附5例报道并文献复习[J]. 磁共振成像, 2022, 13(5): 132-135. DOI:10.12015/issn.1674-8034.2022.05.027

       本文为回顾性研究,经过兰州大学第二医院医学伦理委员会批准,免除受试者知情同意,批准文号:2021A-489。

       软组织肉瘤是一组异质性肿瘤,至少包含70个组织学实体[1]。腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)约占所有软组织肉瘤的0.5%~1.0%[2, 3],是一种罕见的肿瘤,好发年龄15~35岁,男女之比约为1∶2,在5岁前和50岁后少见。因ASPS临床进展缓慢,影像上又极易与良性血管瘤、动静脉畸形相混淆,当发现时患者往往已经发生转移[1],故早期识别、诊断非常重要。在此分享5例在兰州大学第二医院(以下简称“我院”)确诊为ASPS的病例,为该病提供影像诊断思路。

       收集我院2013年5月至2021年5月经手术证实的下肢ASPS患者5例,均伴转移,临床及影像资料完整。其中男3例,女2例,年龄(31±11.07)岁,平均病程3.5年。3例原发部位行MR平扫及增强检查,2例行计算机体层摄影(computed tomography,CT)平扫及增强检查,2例行CT血管造影(CT angiography,CTA)检查,5例均行胸部CT平扫和头颅MR平扫及增强检查。

       临床表现:5例患者临床表现无特异性,2例表现为中枢神经系统症状(头痛、头晕),2例表现为下肢肿物且缓慢增大,1例表现为骨盆疼痛、活动受限。具体资料见表1

       影像表现:原发灶,部位:3例位于右侧大腿,1例位于左侧大腿,1例位于左侧臀部,且均位于深部软组织或肌间隙内。大小及形态:肿瘤体积均较大,外形不规则,边缘呈浅分叶改变。CT平扫(图1A1B):2例行此项检查,均表现为不均质软组织肿块,CT值约为40~50 HU,均发生斑点样钙化。MR平扫(图2A2B):3例行此项检查,1例T1加权成像(T1 weighted imaging,T1WI)呈等信号,2例呈高信号,3例T2加权成像(T2 weighted imaging,T2WI)均呈高信号,弥散加权成像(diffusion weighted imaging,DWI)扩散受限呈高信号,周围肌肉及皮下脂肪水肿被推挤,均可见裂隙状流空血管。增强扫描:5例均行增强扫描,均呈明显不均匀强化,液化坏死区未强化。CTA (图1C):2例行此项检查,2例肿块均由股深动脉供血,肿块内部及周围见迂曲增粗血管,尤其是上下极。转移灶(图1D1F2C):肺部CT表现为双肺大小不等软组织结节,边界清楚,明显强化,部分肿瘤内见多发血管影。颅脑T1WI呈等或稍高信号,T2WI呈高信号,伴周围明显水肿,DWI扩散受限呈高信号,明显均匀强化。

       病理结果(图1G2D):大体病理:肿瘤组织大部分呈灰红色,质软、韧,血供丰富,部分肿瘤可见包膜,但包膜不完整。镜下:肿瘤细胞排列呈巢团状、腺泡状、器官状,肿瘤细胞大小一致,胞浆丰富,呈透明或嗜酸性,核浆比增大,核深染,核分裂像少见,巢团及腺泡周围富含毛细血管。免疫组化染色:TFE-3阳性率5/5,血管内皮细胞CD34阳性率5/5,Vimentin阳性率3/5,Ki-67约为10%~20%。

图1  女,31岁,腺泡状软组织肉瘤,原发灶位于右侧大腿前部肌间隙伴脑转移。1A:CT平扫示不均质软组织肿块,内见多发斑点状钙化(箭),CT值约为40~50 HU;1B:CT增强呈明显不均匀强化(箭),CT值约为150~200 HU,局部呈浅分叶;1C:下肢CT血管造影显示供血动脉来自右侧股深动脉(箭),肿块内部及周围多发迂曲增粗血管影穿行,尤其是上下极;1D~1F:分别为T2WI、T1WI、T1WI增强示左侧额叶不规则占位,T2WI呈高信号,伴周围明显水肿(1D,箭),T1WI呈稍高或等信号(1E,箭),增强明显化(1F,箭);1G:病理图(HE ×100),示肿瘤细胞呈器官样排列。
Fig. 1  Female, 31-year-old, alveolar soft part sarcoma, the primary lesion located in the anterior muscle space of the right thigh with brain metastases. 1A: computed tomography (CT) scan shows heterogeneous soft tissue masses with multiple spot-like calcifications (arrow). The CT value is about 40-50 HU; 1B: CT enhanced shows obvious uneven enhancement (arrow), with CT values of about 150-200 HU, the local lobes are shallow; 1C: Lower extremity CT angiography shows that the blood supply artery comes from the right deep femoral artery (arrow). There are multiple tortuous and thickened vascular shadows in and around the mass, especially the upper and lower poles; 1D-1F: T2 weighted imaging (T2WI), T1 weighted imaging (T1WI), T1WI enhanced show irregular occupancy of the left frontal lobe, high signal on T2WI with obvious peripheral edema (1D, arrow), and slightly higher or equal signal on T1WI (1E, arrow), with enhanced obviousness (1F, arrow); 1G: Pathological map (HE ×100), showing that the tumor cells are arranged in an organ-like arrangement.
图2  男,52岁,腺泡状软组织肉瘤,原发灶位于右侧腘窝后上方肌间隙内伴肺脑转移。2A:矢状位T1WI病灶主体呈等信号,内见片絮状高信号(箭);2B:冠状位T2WI呈高信号,内见裂隙状低信号血管流空影(箭);2C:CT肺窗示双肺多发大小不等结节(箭);2D:病理图(HE ×200),瘤细胞呈巢团状、器官样排列(箭)。
Fig. 2  Male, 52-year-old, alveolar soft part sarcoma, the primary lesion was located in the posterior superior muscle space of the right popliteal fossa with lung-brain metastasis. 2A: T1 weighted imaging sagittal shows the main body of the lesion showed isointensity, and flocculent hyperintensity was seen inside (arrow); 2B: T2 weighted imaging coronal shows high signal, and there is an empty shadow of fissure-like low signal vascular flow (arrow); 2C: computed tomography lung window shows multiple nodules of different sizes in both lungs (arrow); 2D: Pathology map (HE ×200), tumor cells are arranged in nests and organoids (arrow).
表1  腺泡状软组织肉瘤患者临床资料及随访结果
Tab. 1  Clinical material and follow-up results of patients with alveolar soft part sarcoma

讨论

       ASPS是一种临床罕见的软组织肉瘤,多见于15~35岁,女性略多见,通常发生于下肢深部软组织,且右侧多于左侧[4],也可发生于躯干和腹膜后,而对于年龄较小的儿童,头颈部是最常见的受累部位,可发生于舌部、口腔、咽部、眼眶、耳部等[5, 6]。本组病例均为成人,4例发生于下肢,且3例位于右下肢,1例位于左下肢,1例位于臀部,符合文献报道。但是男性稍多,分析原因可能是病例数太少所致。

       ASPS临床进展缓慢,常表现为无痛性、进行性肿块,故有“无声肿瘤”之称,但具有极高的转移率,约为20%~40%[7]。ASPS最常转移至肺、其次为脑和骨,肺的转移率约为42%~65%,脑约为30%[8, 9],头颈部ASPS发生转移的概率较低[10]。本组病例诊断时均已发生转移,3例发生双肺转移,1例肺脑转移,1例脑转移,与文献报道较为一致。关于ASPS的组织来源尚不清楚。目前,WHO将ASPS归类为未确定分化肿瘤,但是多数研究认为,其可能是肌源性的[11]。细胞遗传学分析表明,ASPS属于小眼畸形转录因子(MiT)相关肿瘤,MiT的基因家族包括TFE3、TFEB、TFEC、MITF。ASPS的分子特征是X与17号染色体t (X;17) (p11;q25)之间不平衡易位[7,11, 12],形成融合基因ASPL-TFE3,产生异常融合蛋白,驱动发病。女性有更高的发病率,可能与其存在两条X染色体相关。

       组织病理:ASPS组织病理学显示肿瘤高度血管化[13],细胞遗传学也提示与血管生成的相关基因上调[14],故有研究提出,对ASPS可以进行抗血管生成的治疗[15]。肿瘤细胞排列疏松,呈巢团状、腺泡状(ASPS命名源于此)、或器官状,内衬有单层内皮细胞,每个巢团被细小的纤维血管包绕,胞质丰富、松脆,胞浆内含有PAS (+)、抗淀粉酶的晶体结构,细胞核大,核仁明显[16]。免疫组化:TFE3在ASPS中总是表达阳性,已经成为诊断ASPS的标记物[17, 18],本组病例中5例患者ASPS均表达阳性,符合文献报道。

       影像表现:原发病灶,通常表现为原发部位较大的软组织肿块,膨胀性生长,边界不清或尚清,一般无包膜,大部分肿瘤呈分叶状改变,可见钙化[7],增强扫描呈明显不均匀强化[19]。MRI信号特点:与邻近肌肉相比,T1WI及T2WI均呈高信号,DWI扩散受限呈高信号,瘤内及瘤周可见多发迂曲流空血管。大多数研究认为,T1WI高信号原因是肿瘤周围或内部含丰富的毛细血管,血液流动缓慢、淤积所致,而T2WI高信号与肿瘤细胞密集、液化坏死等相关[19, 20, 21]。肿瘤内可发生液化坏死,尤其是体积较大的肿瘤,有研究发现,大范围的偏心性坏死发生在肿瘤中央无液化坏死之前,可能是血管中的瘤栓导致肿瘤细胞缺血缺氧所致[22]。McCarville等[13]发现,ASPS流空的血管主要位于肿瘤上下极,认为流空的血管可以作为ASPS的一个诊断依据。本组病例中,2例患者CTA检查明确显示肿瘤上下极多发迂曲血管。因此,有理由认为由于肿瘤的血管主要位于肿瘤边缘,相较于肿瘤中心瘤栓更易形成,故更易出现液化坏死。转移灶:ASPS高度的血源性转移倾向与其丰富的新生血管和循环中释放血管内皮包裹的肿瘤细胞族有关[23]。肺部表现为大小不等结节状软组织密度,边界清楚,CT增强扫描可见肿瘤内富含血管,呈高密度[5,21],这与ASPS组织学多血管一致。ASPS是所有肉瘤中脑转移率最高的,与其他脑转移瘤不同,如肺癌、乳腺癌等,肿瘤含丰富血管,中央伴或不伴液化坏死,T1WI及T2WI均为高信号,明显均匀或不均匀强化,与原发ASPS相似[4]

       鉴别诊断:(1)肌肉或肌间血管瘤:T2WI呈明显高信号,称为“灯泡征”,边界清晰,CT常见静脉石、或钙化成分,增强扫描呈结节状明显强化。(2)动静脉畸形:肿瘤实性成分较少,由团块状血管构成,典型者可以见到粗大的供血动脉及引流静脉。(3)滑膜肉瘤:好发于青壮年男性,常见于四肢关节附近,膝关节和足部最多见,钙化常见,多位于病灶边缘,坏死囊变多见,无明显流空血管,增强呈不均匀中度或明显强化。(4)黏液纤维肉瘤:常见于老年人(60~80岁),多位于浅筋膜下,密度或信号混杂,与其病理成分多样有关。MRI“双低信号”具有一定特征性,即在T1WI、T2WI均为低信号,病理基础为肿瘤内的纤维成分,增强扫描肿瘤实性成分明显强化,黏液样变轻度强化,以“筋膜尾征”向四周浸润,而ASPS无纤维成分。

       ASPS临床罕见,影像表现及病理具有一定特征,好发于青年女性下肢,右侧多见,临床进展缓慢,常伴肺或脑的转移。原发肿瘤体积较大,边缘浅分叶,瘤内及瘤周存在明显的流空血管,尤其是流空血管位于上下极,可作为ASPS的一个诊断依据,T1WI呈等或高信号也具有一定提示意义,增强扫描呈明显不均匀强化,免疫组化TFE3阳性表达有助于确诊。

[1]
Paoluzzi L, Maki RG. Diagnosis, prognosis, and treatment of alveolar soft-part sarcoma: a review[J]. JAMA Oncol, 2019, 5(2): 254-260. DOI: 10.1001/jamaoncol.2018.4490.
[2]
Jaber OI, Kirby PA. Alveolar soft part sarcoma[J]. Arch Pathol Lab Med, 2015, 139(11): 1459-1462. DOI: 10.5858/arpa.2014-0385-RS.
[3]
郑哲东, 孟姮. 腺泡状软组织肉瘤伴肺转移一例[J]. 磁共振成像, 2020, 11(11): 1038-1039. DOI: 10.12015/issn.1674-8034.2020.11.018.
Zheng ZD, Meng H. Alveolar soft part sarcoma with lung metastases: a case report[J]. Chin J Magn Reson Imaging, 2020, 11(11): 1038-1039. DOI: 10.12015/issn.1674-8034.2020.11.018.
[4]
Tao XG, Hou ZG, Wu Z, et al. Brain metastatic alveolar soft-part sarcoma: Clinicopathological profiles, management and outcomes[J]. Oncol Lett, 2017, 14(5): 5779-5784. DOI: 10.3892/ol.2017.6941.
[5]
Mcaddy NC, Saffar H, Litière S, et al. iCREATE: imaging features of primary and metastatic alveolar soft part sarcoma from the EORTC CREATE study[J]. Cancer Imaging, 2020, 20(1): 79. DOI: 10.1186/s40644-020-00352-9.
[6]
付雨菲, 熊鑫. 大腿腺泡状软组织肉瘤2例报告并文献复习[J]. 医学影像学杂志, 2021, 31(2): 357-359.
Fu YF, Xiong X. Thigh alveolar soft part sarcoma: report of 2 cases and literature review[J]. J Med Imaging, 2021, 31(2): 357-359.
[7]
Lin YK, Wu PK, Chen CF, et al. Alveolar soft part sarcoma: clinical presentation, treatment, and outcome in a series of 13 patients[J]. J Chin Med Assoc, 2018, 81(8): 735-741. DOI: 10.1016/j.jcma.2018.01.006.
[8]
罗芙蓉, 詹阿来, 黄庆文. 腺泡状软组织肉瘤三例磁共振成像表现与文献复习[J]. 实用医学影像杂志, 2019, 20(1): 41-43. DOI: 10.16106/j.cnki.cn14-1281/r.2019.01.013.
Luo FR, Zhan AL, Huang QW. MRI findings of 3 cases with alveolar soft-part sarcoma and literature review[J]. J Pract Med Imaging, 2019, 20(1): 41-43. DOI: 10.16106/j.cnki.cn14-1281/r.2019.01.013.
[9]
Ogura K, Beppu Y, Chuman H, et al. Alveolar soft part sarcoma: a single-center 26-patient case series and review of the literature[J]. Sarcoma, 2012, 2012: 907179. DOI: 10.1155/2012/907179.
[10]
Hagerty BL, Aversa J, Diggs LP, et al. Characterization of alveolar soft part sarcoma using a large national database[J]. Surgery, 2020, 168(5): 825-830. DOI: 10.1016/j.surg.2020.06.007.
[11]
Soheilifar MH, Taheri RA, Zolfaghari Emameh R, et al. Molecular landscape in alveolar soft part sarcoma: implications for molecular targeted therapy[J]. Biomedecine Pharmacother, 2018, 103: 889-896. DOI: 10.1016/j.biopha.2018.04.117.
[12]
Stockwin LH. Alveolar soft-part sarcoma (ASPS) resembles a mesenchymal stromal progenitor: evidence from meta-analysis of transcriptomic data[J]. PeerJ, 2020, 8: e9394. DOI: 10.7717/peerj.9394.
[13]
McCarville MB, Muzzafar S, Kao SC, et al. Imaging features of alveolar soft-part sarcoma: a report from Children's Oncology Group Study ARST0332[J]. AJR Am J Roentgenol, 2014, 203(6): 1345-1352. DOI: 10.2214/AJR.14.12462.
[14]
Lazar AJ, Das P, Tuvin D, et al. Angiogenesis-promoting gene patterns in alveolar soft part sarcoma[J]. Clin Cancer Res, 2007, 13(24): 7314-7321. DOI: 10.1158/1078-0432.CCR-07-0174.
[15]
Brahmi M, Vanacker H, Dufresne A. Novel therapeutic options for alveolar soft part sarcoma: antiangiogenic therapy, immunotherapy and beyond[J]. Curr Opin Oncol, 2020, 32(4): 295-300. DOI: 10.1097/CCO.0000000000000652.
[16]
Agarwal S, Gupta R, Iyer VK, et al. Cytopathological diagnosis of alveolar soft part sarcoma, a rare soft tissue neoplasm[J]. Cytopathology, 2011, 22(5): 318-322. DOI: 10.1111/j.1365-2303.2010.00796.x.
[17]
Rekhi B, Rao V, Ramadwar M. Revisiting cytomorphology, including unusual features and clinical scenarios of 8 cases of alveolar soft part sarcoma with TFE3 immunohistochemical staining in 7 cases[J]. Cytopathology, 2021, 32(1): 20-28. DOI: 10.1111/cyt.12906.
[18]
Asiry S, Matloob A, Khader SN. Alveolar soft part sarcoma: a distinct cytomorphology and characteristic TFE3 staining[J]. Diagn Cytopathol, 2020, 48(7): 684-686. DOI: 10.1002/dc.24425.
[19]
Crombé A, Brisse HJ, Ledoux P, et al. Alveolar soft-part sarcoma: can MRI help discriminating from other soft-tissue tumors? A study of the French sarcoma group[J]. Eur Radiol, 2019, 29(6): 3170-3182. DOI: 10.1007/s00330-018-5903-3.
[20]
Li XB, Ye ZX. Magnetic resonance imaging features of alveolar soft part sarcoma: report of 14 cases[J]. World J Surg Oncol, 2014, 12: 36. DOI: 10.1186/1477-7819-12-36.
[21]
Sood S, Baheti AD, Shinagare AB, et al. Imaging features of primary and metastatic alveolar soft part sarcoma: single institute experience in 25 patients[J]. Br J Radiol, 2014, 87(1036): 20130719. DOI: 10.1259/bjr.20130719.
[22]
Cui JF, Chen HS, Hao DP, et al. Magnetic resonance features and characteristic vascular pattern of alveolar soft-part sarcoma[J]. Oncol Res Treat, 2017, 40(10): 580-585. DOI: 10.1159/000477443.
[23]
Setsu N, Yoshida A, Takahashi F, et al. Histological analysis suggests an invasion-independent metastatic mechanism in alveolar soft part sarcoma[J]. Hum Pathol, 2014, 45(1): 137-142. DOI: 10.1016/j.humpath.2013.07.045.

上一篇 胆囊肉瘤样癌一例
下一篇 高分辨率磁共振血管壁成像在缺血性脑卒中的应用进展
  
诚聘英才 | 广告合作 | 免责声明 | 版权声明
联系电话:010-67113815
京ICP备19028836号-2