21例腺泡状软组织肉瘤的临床病理分析

目的探讨腺泡状软组织肉瘤的临床病理学特征及其鉴别诊断。方法对21例ASPS的临床资料进行回顾性分析,对标本进行组织病理学观察及免疫组织化学研究。结果21例腺泡状软组织肉瘤,男性11例,女性10例,发病年龄4～56岁,平均25.9岁,发病部位主要位于下肢深部软组织内,镜下肿瘤细胞排列成腺泡状或实性,细胞巢之间可见窦状血管分隔,瘤细胞胞质内含丰富的嗜酸性颗粒。PAS染色,瘤细胞胞质内可见棒状结晶体,免疫组化:MyoD110例阳性,desmin4例阳性,S-1009例阳性,NSE11例阳性,Vim11例阳性,AE1/AE3、CK、EMA、SMA、MSA、Syn全部为阴性。结论ASPS是多见于青少年和青年的罕见肿瘤,但多数早期出现血液转移,切除后易复发,最终预后欠佳,结合临床病理学特征及免疫组化,可作出正确诊断。     

腺泡状软组织肉瘤48例临床病理分析北大核心CSCD

目的探讨腺泡状软组织肉瘤（ASPS）的临床病理特点及鉴别诊断。方法总结48例腺泡状软组织肉瘤的临床病理学特征、免疫表型及基因检测结果,并复习相关文献。结果收集2001–2014年48例腺泡状软组织肉瘤,男性17例,女性31例,男女之比为1.0∶1.8,发病年龄2～60岁,中位年龄26岁。肿瘤多数位于深部软组织内,下肢多见。组织学可见特征性的腺泡状或巢状结构,其周围由薄壁窦隙样血管环绕。瘤细胞体积大,胞质丰富,嗜伊红颗粒状或半透明空泡状,核圆形、卵圆形或不规则形,可见明显的核仁。血管内常见瘤栓。部分病例伴出血、坏死、囊性变。所检测的33例ASPS免疫组织化学TFE3均为阳性（100%,33/33）,4例行荧光原位杂交检测均示肿瘤细胞有TFE3–ASPL基因融合。结论腺泡状软组织肉瘤较为少见,发病年龄轻,TFE3具有较高的特异性和敏感性,但在其他肿瘤也可有阳性表达,需结合其他标志物综合鉴别。     

儿童腺泡状软组织肉瘤13例临床病理学特征

目的探讨儿童腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理、分子遗传学特点、诊断及鉴别诊断。方法对北京儿童医院2009年8月至2018年11月13例儿童ASPS病例存档切片行HE染色及组织化学染色[包括过碘酸-雪夫(PAS)染色及淀粉酶消化PAS(D-PAS染色)]。采用免疫组织化学染色检测TFE3、INI1、CD68等的表达,应用荧光原位杂交(FISH)法检测TFE3基因断裂易位情况。结果13例ASPS中,男童4例,女童9例,年龄1岁2个月至13岁8个月,平均7.8岁,5岁以下4例。组织学上,11例肿瘤细胞呈腺泡状、巢状排列,2例肿瘤细胞呈实性、弥漫性生长。瘤细胞胞质嗜酸性,可见明显的空泡现象,核多形性,核仁突出,核分裂象罕见,3例可见血管浸润。免疫组织化学染色TFE3弥漫核阳性,INI1、CD68、波形蛋白阳性,MyoD1、Myogenin、细胞角蛋白、S-100蛋白等均阴性。7例PAS及D-PAS染色显示肿瘤细胞质内均可见紫红色针状或棒状结晶体。9例行FISH检测,均显示TFE3基因断裂易位。结论ASPS为儿童少见软组织肿瘤,肿瘤多位于深部肌肉内,瘤细胞排列成腺泡状或巢状,同时TFE3基因位点发生断裂易位,确定诊断需要结合临床、病理形态、免疫组织化学及基因检测综合考虑。     

腺泡状软组织肉瘤16例临床病理分析

目的探讨腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理、免疫表型以及分子遗传学特征。方法对16例ASPS进行临床病理学、细胞化学和免疫表型观察,其中2例行FISH检测。结果 16例ASPS中男性6例,女性10例,发病年龄8~58岁(中位年龄31.7岁),临床表现为局部缓慢生长的肿块。肿瘤发生部位包括四肢、肩背部、舌、声带、肺、子宫颈、输尿管。镜下见典型的器官样或腺泡状结构,形成窦隙状血管及纤维间隔,肿瘤胞质内含丰富嗜酸性颗粒。PAS染色显示肿瘤细胞内可有结晶体形成,免疫组化标记肿瘤细胞TFE3阳性,FISH检测肿瘤细胞存在ASPL-TFE3基因融合。结论 ASPS好发于青少年,肿瘤好发部位为四肢,少见部位(舌、声带、子宫颈、输尿管等)发生的ASPS易被误诊为上皮性恶性肿瘤。病理诊断时需与原发或转移性腺癌、副神经节瘤鉴别。肿瘤细胞形成典型的腺泡状结构并且免疫组化标记TFE3和组织蛋白酶K对诊断有意义,诊断时需结合ASPL-TFE3基因融合检测技术。     

儿童和成人腺泡状软组织肉瘤的临床病理学特征

目的探讨儿童和成人腺泡状软组织肉瘤(alveolar soft part sarcoma, ASPS)的临床病理学特征、诊断及鉴别诊断。方法采用免疫组化EliVision两步法检测9例ASPS中TFE3、CK、EMA、desmin、SMA、Myogenin、MyoD1、S-100、HMB-45、CgA、Syn、CD68的表达,并对其中7例患者行FISH检测。结果 3例儿童患者分别发生于头颈、眼眶、舌部;6例成人患者均位于四肢及躯干部位。镜下肿瘤细胞胞质丰富,嗜酸性或淡染,部分伴颗粒状结晶,局部呈坏死,可见较多的核分裂象。儿童ASPS多由薄壁血管分割成实性片状小巢;成人常见肿瘤被纤维组织包绕,周围伴厚壁血管,或由窦状血管分隔成腺泡状、"器官样"结构。免疫表型:儿童组患者TFE3蛋白均阳性(3/3),成人组1例标本为阴性(1/6),其余均阳性(5/6)。FISH检测:3例儿童及4例成人患者均为TFE3断裂基因阳性(7/7)。随访39～92个月,儿童ASPS患者预后较好,3例均存活;成人ASPS患者预后较差,2例伴多脏器转移者死亡。结论 ASPS好发于成人和儿童,均有位于Xp11.2染色体的TFE3基因易位及融合,但形态学特征并不完全相同,其好发部位和预后也有差异。     

小细胞肺癌抗肿瘤治疗后应用rhG-CSF致重症多形红斑1例

腺泡状软组织肉瘤 (Alveolar Soft Part Sarcoma,ASPS) 是由特异性染色体易位导致的一种分化尚未明确的软组织肉瘤亚型,因病理学表现为肿瘤呈“器官样”或“腺泡状”排列的瘤细胞巢而得名,免疫组化TFE3阳性为其特异性表现,手术切除是其根本治疗方式。本文报道一例因癫痫起病的颅内、双肺多发转移ASPS患者,经颅内最大瘤体全切,病理证实ASPS。随访发现患者术后复发两次,并伴有双肺广泛转移、左下肢软组织转移,预后极差。     

儿童腺泡状软组织肉瘤13例临床病理学特征

目的探讨儿童腺泡状软组织肉瘤(alveolar soft part sarcoma, ASPS)的临床病理、分子遗传学特点、诊断及鉴别诊断。方法对北京儿童医院2009年8月至2018年11月13例儿童ASPS病例存档切片行HE染色及组织化学染色[包括过碘酸-雪夫(PAS)染色及淀粉酶消化PAS(D-PAS染色)]。采用免疫组织化学染色检测TFE3、INI1、CD68等的表达, 应用荧光原位杂交(FISH)法检测TFE3基因断裂易位情况。结果 13例ASPS中, 男童4例, 女童9例, 年龄1岁2个月至13岁8个月, 平均7.8岁, 5岁以下4例。组织学上, 11例肿瘤细胞呈腺泡状、巢状排列, 2例肿瘤细胞呈实性、弥漫性生长。瘤细胞胞质嗜酸性, 可见明显的空泡现象, 核多形性, 核仁突出, 核分裂象罕见, 3例可见血管浸润。免疫组织化学染色TFE3弥漫核阳性, INI1、CD68、波形蛋白阳性, MyoD1、Myogenin、细胞角蛋白、S-100蛋白等均阴性。7例PAS及D-PAS染色显示肿瘤细胞质内均可见紫红色针状或棒状结晶体。9例行FISH检测, 均显示TFE3基因断裂易位。结论 ...     

腺泡状软组织肉瘤7例临床病理分析

目的探讨腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理特征、诊断及鉴别诊断。方法收集7例ASPS的临床资料并随访,观察和分析其临床病理及免疫表型特征,并复习相关文献。结果 7例患者中,女性3例,男性4例,男女比为4∶3。年龄9～42岁,平均24.4岁。年龄为9岁的患者肿块位于眼眶,其余病例均发生于四肢,下肢为主。肿瘤大体表现为实性包块,切面均质,灰黄色或灰红色,肿块较大的肿瘤局部可伴有出血、坏死。低倍镜下,ASPS具有显著特征性的巢状或器官样生长方式,巢状结构在大小和形状上比较一致,巢状结构中间伴血窦样血管裂隙,肿瘤中心可出现坏死,呈假腺样。高倍镜下,肿瘤细胞大小一致,多角形到圆形,边界清楚。胞质丰富,嗜伊红,富含糖原,空泡状。细胞核大小一致,圆形,居中,核仁明显,1～2个;但核分裂少见,血管侵犯多见。免疫表型:肿瘤细胞核TFE-3均弥漫强阳性,Myo D1胞质阳性,CK、EMA、vimentin、S-100和HMB-45均阴性,Ki-67增殖指数1%～20%。特殊染色示胞质PAS染色阳性。结论 ASPS肉瘤是一种组织来源不明的肉瘤,其特征性的组织形态、免疫表型有助于诊断与鉴别诊断。     

Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特点

目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特点.方法 对4例Xp11.2易位/TFE3基因融合相关性肾癌进行临床资料分析、组织学观察和免疫组化研究,并复习相关文献.结果 4例患者年龄自6～20岁,均具有腰痛的症状和较高的临床分期.肿瘤最大径2.5～10 cm,切面灰黄间灰红色.组织学上,肿瘤显示乳头状和腺泡状2种生长方式, 间质可见钙化.肿瘤细胞界限清楚,胞质淡红染至透亮,染色质呈泡状,核仁易见.4例肿瘤均弥漫高表达TFE3和CD10,不同程度表达CK、EMA和vimentin.结论 Xp11.2易位/TFE3基因融合相关性肾癌是最近被定义的一种罕见肿瘤,好发于年轻患者,预后较差.其诊断主要依靠特征性的组织病理学改变和免疫标记TFE3阳性.     

肺转移性腺泡状软组织肉瘤4例临床病理分析

目的探讨肺转移性腺泡状软组织肉瘤(alveolar soft part sarcoma,ASPS)的临床病理学特征及鉴别诊断。方法回顾性分析4例肺转移性ASPS患者的临床病理学、影像学、免疫表型特征,并复习相关文献。结果 4例中2例男性,2例女性,年龄17~51岁;3例出现咳嗽、咳痰症状,1例出现头晕、恶心、视物模糊等症状。镜下见上皮样瘤细胞呈片、巢状生长,局部呈腺样排列,胞质丰富、红染,胞核呈圆形、卵圆形,染色质较淡。免疫表型:4例肿瘤细胞TFE-3均阳性,TTF-1、Syn、CgA、HMB-45、MyoD 1、CK、desmin、vimentin均阴性;其中2例CD56局灶阳性,1例S-100阳性;Ki-67增殖指数10%~50%。随访3例患者带瘤生存,1例无瘤生存(分别随访13、16、19、20个月)。结论肺转移性ASPS容易误诊为肺原发性腺癌、其他上皮样肿瘤等,诊断需详细了解临床病史、影像学、组织形态及免疫表型等综合分析。     

Alveolar soft part sarcoma of the endometrium with expression of CD10 and hormone receptors

Alveolar soft part sarcoma (ASPS) is a rare tumor of uncertain histogenesis, mainly localized in the extremities. ASPS originating in the uterine corpus is quite rare; only eight such cases have been reported in the literature. We here present another case of ASPS found in the endometrium in a 50-year-old woman. Metastatic malignant tumor, including ASPS from other organs, was excluded by physical examination and imaging modalities. Thallium 201 was only localized in the uterus. The tumor showed characteristic histological features of ASPS: alveolar architecture with fibrovascular septa and abundant eosinophilic granular cytoplasm with periodic acid-Schiff-positive crystalline material. Diffuse nuclear immunoreactivity for TFE3, a marker recently reported to be specific for ASPS, further supported the diagnosis of ASPS. Interestingly, this tumor was negative for myogenic markers, but positive for CD10, progesterone receptor, and estrogen receptor. These immunohistochemical results and the tumor location suggest a possible link between endometrial stromal cells and the development of this tumor.     

Fine‐needle aspiration of alveolar soft part sarcoma: Histologic correlation and aberrant CD68 expression

Alveolar soft part sarcoma is a rare highly malignant neoplasm of the soft tissue and usually occurs in the lower extremities of children and young adults. We report two cases of alveolar soft part sarcoma: a 24‐year‐old Latino man with a 10‐ cm neck mass and a 56‐year‐old Latino woman with a recurring thigh mass. Fine‐needle aspiration and a core biopsy were performed on both, which was followed by tumor resection on the man. The smears displayed numerous loosely cohesive or single large cells with abundant granular cytoplasm, round nuclei, vesicular chromatin, and occasional prominent nucleoli. Periodic and Schiff (PAS)‐positive, diastase‐resistant rhomboid, or needle‐shaped crystals were present. Both tumors had diffuse and strong nuclear TFE3 expression and aberrant cytoplasmic CD68 expression. Fluorescence in situ hybridization analysis was performed in the first case, which detected a characteristic translocation t(X;17)(p11;q25). The diagnosis of alveolar soft part sarcoma was rendered in both cases. Herein, we present the cytology, histology, immunohistochemistry, and molecular findings and discuss the differential diagnosis.     

Alveolar soft part sarcoma: A case report with emphasis on some unusual cytological features

Alveolar soft part sarcoma is a very rare, slow growing highly angiogenic tumor with poor prognosis. Most common site in children and infants is head and neck region and in adults it most commonly occurs in extremities especially thigh. In our case study, an 8 years old female patient presented with a gradually progressive left shoulder lump. FNAC from the lesion showed cellular smears with polyhedral and spindly cells showing abundant finely vacuolated cytoplasm, nuclear pleomorphism, intranuclear pseudoinclusions, and few bare nuclei. Perivascular arrangement of cells was peculiar in addition to the presence of intracytoplasmic metachromatic PAS positive diastase resistant granules. A presumptive diagnosis of alveolar soft part sarcoma with differentials of granular cell tumor and PEComa was considered and the lesion was excised. Although the histopathological features were not characteristic (ie, showing mainly solid pattern without classic alveolar pattern), immunohistochemistry were diagnostic (negative for S 100, Desmin, Cytokeratin, EMA, and moderate to strong nuclear positivity for TFE3). Thus, the diagnosis of alveolar soft part sarcoma was established. This case is being presented for its rarity and unique cytological and histopathological features.     

Alveolar soft part sarcoma presenting as a breast metastasis in a patient with a history of thyroid cancer: a case report

Metastases to the breast are uncommon, accounting for 0.5% of breast tumors, and most of them are originated from lymphoma, melanoma and carcinomas of various organs. Alveolar soft part sarcoma (ASPS) is a very rare neoplasm that is usually found in the lower extremities. Lungs are the common site of dissemination and may represent initial manifestation of disease. We report a clinically unsuspected case of ASPS presenting as a breast metastasis in a 25-year-old woman. The patient’s medical history was notable for a thyroid cancer treated by surgery and radioiodine ablation 2 years ago. Core needle biopsy of slowly growing breast mass yielded polygonal cells with abundant eosinophilic cytoplasm arranged into solid pattern. Differential diagnosis between apocrine cell carcinoma, paraganglioma, granular cell tumor, neuroendocrine carcinoma, ASPS and metastatic hepatocellular and renal cell carcinoma was rendered by immunohistochemistry. Strong nuclear TFE3 immunoreactivity confirmed a diagnosis of ASPS. Retrospectively a primary tumor was found in the thigh. Most likely, ASPS and thyroid cancer in the patient were growing synchronously and independently.     

Primary alveolar soft part sarcoma (ASPS) of the breast: report of a deceptive case with xanthomatous features confirmed by TFE3 immunohistochemistry and electron microscopy

Alveolar soft part sarcoma (ASPS) is a rare neoplasm that most commonly presents in the lower extremities. Although ASPS has distinctive histologic features, it may cause diagnostic problems when it arises in unusual locations. To our knowledge, only 1 case of ASPS arising within the breast has previously been reported. Here, we report a second case of primary mammary ASPS. The patient was a 44-year-old woman who presented with a breast mass. Needle biopsy was performed, yielding a polygonal cell lesion with abundant, predominantly xanthomatous cytoplasm. The cells labeled strongly for the histiocytic marker CD68, suggesting a benign macrophage-rich lesion. However, the unusual nature of the lesion as well as the prominence of nucleoli prompted suggestion for an excision. The excision more clearly revealed the lesion's alveolar architecture and demonstrated cells with more eosinophilic cytoplasm, along with the xanthomatous cells. The diagnosis of ASPS was confirmed by electron microscopy, which revealed characteristic membrane-bound rhomboidal crystals, as well as by nuclear labeling for TFE3 protein by immunohistochemistry. With this report, we confirm the utility of a novel immunohistochmical technique for the identification of an ASPS presenting in an unusual locale.     

Primary alveolar soft part sarcoma of the uterine cervix: a case report and literature review

Alveolar soft part sarcoma (ASPS) is a tumor of unknown histogenesis, composed of large, epithelioid cells with eosinophilic cytoplasm, having an alveolar pattern. Primary ASPS of uterine cervix is very rare. In this report, we present a 21-aged-old female with primary ASPS in the uterine cervix and discuss the clinicopathological characteristics, immunophenotype, molecular genetic feature and differential diagnosis of ASPS of cervix.