儿童型囊性肾瘤在形态学、免疫表型和基因遗传学方面与成人型囊性肾瘤不同

<正>传统意义上的囊性肾瘤包括两种肿瘤,一种是成人型囊性肾瘤,属于混合性上皮间质肿瘤(MEST)谱系的一部分;另一种是儿童型囊性肾瘤,与DICER1基因突变相关。目前,尚无有关该肿瘤两种病变在形态学、免疫表型和基因遗传学方面详细的对比性分析。作者对比性分析12例成人型囊性肾瘤/MEST(均为女性患者,中位年龄50.5岁)和7例儿童     

囊性肾瘤和肾混合性上皮间质肿瘤临床病理学特征比较

肾脏的肿瘤性囊性病变是指不伴有剩余肾实质囊性改变的肾脏的孤立性囊性肿块。目前肾脏有4种囊性病变：囊性肾瘤（CN）、混合性上皮间质肿瘤（MEST）、囊性部分分化型肾母细胞瘤（CPDN）和多囊性肾细胞癌。其中CN和MEST是少见的良性肾脏肿瘤，二者病变的临床和形态学特征有重叠，包括中年女性多发，大小不等的囊腔、嗜酸性细胞、被覆囊腔的雪钉样细胞和卵巢性间质。作者研究了20例CN和14例MEST的临床病理学特征，[第一段]     

囊性肾瘤与肾混合性上皮和间质肿瘤的形态学特征及鉴别诊断

近年提出的"肾上皮和间质肿瘤(renal epithelial andstromal tumor,REST)"包括了囊性肾瘤(cystic nephroma)以及肾混合性上皮和间质肿瘤(mixed epithelial and stromatlllnor,MEST).囊性肾瘤和MEST之间在性别优势、年龄分布、上皮与间质成分的形态学和免疫组织化学表现方面均相似,但又在上述两种肿瘤的各自范畴内有所变异.     

肾混合性上皮间质肿瘤4例报道及文献复习

目的 探讨肾混合性上皮间质肿瘤（mixed epithelial and stromal tumor of the kidney,MESTK）的临床病理学特点、免疫表型和鉴别诊断。方法 运用光镜和免疫组化方法分析4例MESTK,并复习有关文献。结果 女性3例、男性1例,平均发病年龄为39岁。临床表现为腰痛、肉眼或镜下血尿。巨检肿瘤境界清楚,呈实性。镜检以不等量增生、囊性扩张腺上皮与不同排列方式的梭形细胞间质混合组成为特征。免疫表型为梭形细胞vimentin（3／3）、desmin（2／4）、SMA（3／4）、ER（2／3）、PR（3／3）呈阳性表达,不表达CD34（0／3）、S-100蛋白（0／2）、HMB45（0／2）;上皮细胞CKpan（4／4）、EMA（4／4）呈阳性表达。结论 MESTK是一种少见的。肾良性混合性肿瘤,其诊断主要依靠组织病理学和免疫组化标记。     

囊性肾瘤、肾脏混合性上皮和间质肿瘤34例临床病理分析

囊性肾瘤（CN）与混合性上皮和间质肿瘤（MEST）为少见的良性肾肿瘤，两者的临床和病理特征有重叠，包括好发于中年女性，多变的囊性结构，内衬嗜酸性细胞和鞋钉状细胞，以及卵巢样间质。本研究的目的是分析和比较这些肿瘤的组织学特点和免疫组化表型。作者研究了34例，资料来自5个大的学术机构，其中20例肿瘤诊断为CNs，女性18例，男性2例，年龄范围为24～63岁（平均48岁，     

肾混合性上皮和间质肿瘤1例

肾混合性上皮和间质肿瘤(mixed epithelial and stromal tumor,MEST)是发生在肾脏的一种罕见的良性肿瘤,以往曾被称为肾盂囊性错构瘤、成人中胚层细胞肾瘤.因其发病率低,病理、影像学及临床医师诊断经验较少,容易造成误诊.现报道1例MEST,结合影像学表现及病理特征讨论该疾病特点,以提高对MEST的认识.     

多房囊性肾细胞癌32例临床病理分析

目的：探讨多房囊性肾细胞癌( multilocular cystic renal cell carcinoma, MCRCC)的临床病理特征,提高对该肿瘤的认识。方法复习32例MCRCC的临床资料,观察其病理学形态和免疫表型特征,结合随访资料评价其预后。结果32例中13例位于左肾,18例位于右肾,1例双肾;肿瘤平均最大径4.6 cm(1.0~8.0 cm);男女比为2.2：1。11例行根治性肾全切术,21例行肾部分切除术。肿瘤均为多房囊性,缺少实体成分,囊壁内衬单层(偶为多层或小乳头状)胞质透明或淡粉染、Fuhrman核1级的瘤细胞,腔面富于薄壁血管。瘤细胞表达CK(32/32)、CK7(25/32)、EMA(32/32)、CD10(23/32)、vimentin(20/32),均不表达CD68。术后随访5~140个月,均未见复发和转移,无肿瘤相关死亡病例。结论 MCRCC的瘤细胞核级低、无实性瘤巢;囊壁腔面衬覆胞质透亮或淡粉染细胞伴丰富薄壁血管是诊断线索,免疫表型有助于诊断,患者一般预后良好。     

肾球旁细胞瘤五例临床病理分析

目的 研究肾球旁细胞瘤(JGCT)的病理形态学特点和免疫组织化学表型,提出诊断要点并探讨其组织发生。方法 采用光镜、电镜观察和免疫组织化学(链霉素抗生物素蛋白-过氧化物酶法)结合临床资料对5例肾球旁细胞瘤进行临床病理学分析,同时与血管外皮瘤、皮肤血管球瘤各5例的免疫组织化学结果进行对照。结果 JGCT女性4例,男性1例,平均年龄32．2岁,均有高血压症状。4例行肿瘤切除术,1例行肾根治术,随访4～66个月(平均27个月),5例均无复发和转移。肿瘤位于肾实质,界清,平均大小4．4cm,组织学上有以下特点：(1)瘤组织实性片状分布,细胞圆形、小多边形,大小较一致,胞质淡伊红,部分细胞含PAS阳性的嗜酸性颗粒;(2)核分裂象罕见或无;(3)间质富含薄壁血管,少量玻璃样变小血管,形成血管外皮瘤样结构,散在肥大细胞分布。电镜下找到特征性的菱形分泌颗粒。免疫组织化学结果为．JGCT瘤细胞强阳性表达肾素、CD34、肌动蛋白和calponin,而血管球瘤肾素表达阴性,血管外皮瘤肌动蛋白表达阴性。结论 IGCT是一种好发于青壮年的良性肾肿瘤,起源于演化了的动脉平滑肌细胞。确诊IGCT的关键是证实肾素分泌颗粒,对肾占位伴有高血压的患者,免疫组织化学CD34、肌动蛋白和calponin阳性在诊断中也具重要意义。     

中枢神经系统非典型畸胎样/横纹肌样瘤临床病理及免疫表型特征

目的 探讨中枢神经系统非典型畸胎样／横纹肌样瘤的临床病理特征、诊断及鉴别诊断。方法 对2例非典型畸胎样／横纹肌样瘤应用光镜行HE、网状纤维染色及免疫组织化学染色观察,并结合文献复习。结果 非典型畸胎样／横纹肌样瘤具有特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化。肿瘤组织富于网状纤维,免疫组织化学标记示波形蛋白、CD99、上皮细胞膜抗原、细胞角蛋白、胶质纤维酸性蛋白、S-100蛋白、神经微丝蛋白、结蛋白、平滑肌肌动蛋白阳性,突触素、肌调节蛋白、胎盘碱性磷酸酶和HMB45阴性。结论 非典型畸胎样／横纹肌样瘤是中枢神经系统一种罕见的高度恶性肿瘤,好发于儿童,偶见于成人,呈异源性组织学和免疫组织化学表型。其诊断需与脑内其他多形性肿瘤鉴别。     

肾混合性上皮和间质肿瘤3例临床病理分析

目的探讨肾混合性上皮和间质肿瘤(mixed epithelia and stromal tumor of the kidney,MESTK)的临床病理学特征、免疫表型、鉴别诊断及预后。方法回顾性分析3例MESTK临床病理特征并复习相关文献。结果 3例均为女性,年龄39～43岁。肿瘤与周围肾组织分界清楚或形成推挤式边界。镜下见肿瘤组织均由不同比例的上皮和间质两种成分构成:上皮成分呈密集成簇的微囊/小腺管状、粗大乳头状或甲状腺滤泡样结构排列,较大囊腔被覆扁平或靴钉样细胞;间质成分为少细胞的胶原纤维或富于细胞的梭形纤维间质,局部间质疏松水肿、慢性炎细胞浸润或夹杂数目不等的脂肪细胞,可见富细胞性卵巢样间质围绕在囊性结构周围及成簇厚壁血管。免疫表型:上皮成分表达PAX-8,间质成分表达vimentin、SMA、ER、PR; Ki-67增殖指数均1%。结论MESTK是一种罕见的肾脏原发性良性肿瘤,手术切除后预后良好,确诊主要依靠病理学形态及免疫表型,需与肾脏其他伴有囊性结构或兼具上皮和间质结构的良恶性肿瘤相鉴别。     

Cystic nephroma (multilocular cyst) and mixed epithelial and stromal tumor of the kidney: a spectrum of the same entity?

The recently described mixed epithelial and stromal tumor (MEST) of the kidney and adult cystic nephroma (CN) (multilocular cyst) are rare benign cystic renal neoplasms that are composed of epithelial and stromal elements. Consensus criteria for distinguishing these entities have not been well established. Our objective in this study was to evaluate cases of CN and MEST to define the morphological, immunophenotypic, and clinical features of these two entities. Eleven cases from the files of a single institution diagnosed from 1996 to the present as either CN or MEST were reviewed. Architecturally, all lesions were composed of multiple noncommunicating cysts lined by a single layer of epithelial cells. All cases had areas with increased stromal cellularity and 8 cases had ovarian-like stroma present at least focally within the tumor. No stromal or epithelial cell atypia, blastemal elements, or increased mitotic activity was appreciated. The immunoprofile was also similar in the 7 cases stained and included epithelial reactivity with keratin and CAM 5.2 and stromal reactivity with estrogen receptor, progesterone receptor, smooth muscle actin, WT-1, vimentin, and focal desmin. All cases have acted in a benign fashion with no history of recurrence or metastasis. We propose that CN and MEST of the kidney represent a spectrum of the same entity. If the diagnosis of CN is limited to cases that are comprised entirely of thin fibrous-walled cysts, all 11 of our cases would be classified as MEST.     

Mixed epithelial and stromal tumour (MEST) of the kidney: report of 14 cases with male and PEComatous variants and proposed histopathogenesis

AIMS: This article adds new cases and variants of MEST with discussion of the histopathogenesis. METHODS AND RESULTS: Fourteen MEST were originally diagnosed as cystic nephroma which represents an incidence of 1.6% of renal neoplasms in adults. In females, the stromal component showed areas of müllerian differentiation with positive immunoreactivity for oestrogen (ER) and progesterone receptors (PR) and CD10. Immunoreactivity for HMB45 was identified in a single case having a leiomyomatous appearance. The epithelial component displayed features of müllerian epithelium and reactive renal tubular cells. In two male cases, MEST consisted of fibrous and smooth muscle stroma and cysts lined only by reactive renal tubular cells. Immunoreactivity for ER and PR was focal and weak. CONCLUSIONS: MEST represents a tumour developing from müllerian-like stromal cells in the kidney. The neoplastic stroma encroaches on the renal tubules and has the potential to stimulate the growth of the renal tubules by contact, with development into cysts. Furthermore, the müllerian stroma likely induces the renal tubules to differentiate into müllerian-like epithelium. Melanocytic differentiation of the stroma may occur which represents the PEComatous variant. MESTs in males were histopathologically slightly different from those in females due to the different hormonal milieu.     

Uterine angiomyolipoma: case report and review of the literature

Extrarenal angiomyolipomas (AML) have been reported at various anatomical sites, but infrequently in the gynecological region. In the uterus, only a few cases have been described. We describe a uterine angiomyolipoma occurring in a 40-year-old woman without evidence of tuberous sclerosis. The tumor arose on the right wall of the uterine body and was partially cystic, and it was associated with marked degeneration. It was composed of mature adipose tissue, anomalous blood vessels and non-vascular smooth muscle cells. Immunohistochemistry revealed that non- vascular smooth muscle cells were positive for alpha-smooth muscle actin (alpha-SMA), desmin, vimentin, antihuman muscle actin (HHF35) and progesterone receptor (PR), and negative for cytokeratin, antihuman melanoma (HMB45), CD34, S-100 and estrogen receptor (ER). It is of particular interest that non-vascular smooth muscle cells were negative for HMB45, in contrast to renal and other extrarenal AML in which HMB45 immunoreactivity has been demonstrated in these cells.     

Fat-predominant mixed epithelial stromal tumor (MEST): report of a unique case mimicking angiomyolipoma

A unique case of a mixed epithelial stromal tumor (MEST) that was predominantly composed of adipose tissue is reported here. Radiographically and grossly, the lesion was thought to be an angiomyolipoma, based upon its fatty appearance. Microscopically, the lesion was predominantly composed of mature adipose tissue but also contained clusters of bland tubules surrounded by smooth muscle bundles and collagen. By immunohistochemistry, the stroma labeled diffusely for estrogen and progesterone receptors, while the muscle bundles labeled for desmin. Melanocytic markers HMB45 and Melan A, typically positive in angiomyolipoma, were nonreactive. This case expands the morphologic spectrum of MEST to include mimics of angiomyolipoma.     

Uterine tumour resembling ovarian sex cord tumour is an immunohistochemically polyphenotypic neoplasm which exhibits coexpression of epithelial, myoid and sex cord markers

AIMS: To describe the clinicopathological and immunohistochemical findings in four cases of uterine tumour resembling ovarian sex cord tumour (UTROSCT). METHODS: Four UTROSCTs were stained with a wide range of antibodies, including epithelial (AE1/3, epithelial membrane antigen), myoid (desmin, alpha smooth muscle actin, h-caldesmon), sex cord (alpha inhibin, calretinin, melan A, CD99) and neuroendocrine (chromogranin, CD56) markers as well as hormone receptors (oestrogen receptor, progesterone receptor, androgen receptor), vimentin, CD10, WT1 and HMB45. RESULTS: The tumours ranged from 0.8 to 19.5 cm. Three were relatively well circumscribed intramural myometrial lesions; the other was a pedunculated mass attached to the uterine serosa. The tumours were variably composed of solid, corded, trabecular, nested, glandular and retiform arrangements of tumour cells. In three cases, cells with eccentric nuclei and abundant eosinophilic cytoplasm, resulting in a rhabdoid appearance, were a prominent feature. Three cases were diffusely positive with AE1/3 and all with epithelial membrane antigen. Positivity with myoid markers was common with 3, 4 and 1 case respectively staining with desmin, alpha smooth muscle actin and h-caldesmon; 2, 4, 1 and 2 cases respectively were positive with alpha inhibin, calretinin, melan A and CD99. All were chromogranin negative and exhibited diffuse strong staining with CD56. All were diffusely positive with oestrogen receptor, progesterone receptor, vimentin and WT1. Three cases were androgen receptor positive and all were CD10 and HMB45 negative. CONCLUSIONS: UTROSCT exhibits a polyphenotypic immunophenotype with coexpression of markers of epithelial, myoid and sex cord lineage as well as hormone receptors.     

Papillary renal cell carcinoma with prominent spindle cell stroma - tumor mimicking mixed epithelial and stromal tumor of the kidney: Clinicopathologic,morphologic, immunohistochemical and molecular genetic analysis of 6 cases

Papillary renal cell carcinoma (PRCC) is currently a well-studied type of RCC. In addition to PRCC type 1, there are a number of other subtypes and variants of PRCCs which have been reported. We describe a series of 6 PRCCs with papillary, micropapillary and/or tubulopapillary architecture and prominent spindle cell stroma, resembling stroma in mixed epithelial and stromal tumor of the kidney (MESTK) or sarcomatoid RCC.Clinicopathologic, morphologic, immunohistochemical and molecular features were analyzed.All patients were males with an age range of 44–98 years (mean 65.3, median 65.5 years). Tumor size ranged from 2.4–11.4 cm (mean 5.8, median 4.5 cm). Follow-up data were available for 4 patients, ranging from 3 to 96 months (mean 42.75, median 36 months). Epithelial cells were mostly cylindrical with eosinophilic cytoplasm, showing nuclear grade 2 and 3 (ISUP/WHO).In all cases, loose to compact prominent stroma composed of spindle cells, without malignant mesenchymal heterologous elements was detected. No atypical mitoses were found, while typical mitoses were rare in both epithelial and stromal components.Epithelial cells were positive for CK7, AMACR, and vimentin in all cases, while negative for TFE3, HMB45, desmin, CD34, and actin. The stroma was positive for vimentin, actin and focally for CD34, while negative for CK7, AMACR, TFE3, HMB45, and desmin. Estrogen and progesterone receptors were completely negative. FH and SDHB expression was retained in all analyzable cases. Proliferative index was barely detectable in stromal component and low in epithelial component, ranging 0 to 5% positive stained cells/high power field.Copy number variation was variable with no distinct pattern. No mutations in CDKN2A, BAP1, MET were detected.PRCC with MESTK-like features is a distinct variant of PRCC mimicking MESTK. Our findings add to the body of literature on ever expanding variants of PRCCs. Both epithelial and stromal components lacked true Müllerian features, which was also proven by immunohistochemistry.     

Mixed tumors of the vagina: an immunohistochemical study of 13 cases with emphasis on the cell of origin and potential aid in differential diagnosis.

Mixed tumors of the vagina (MTsV) are rare benign neoplasms characterized by an admixture of well-differentiated epithelial cells and stromal-type cells in various proportions. In contrast to mixed tumors in other anatomic sites, the histogenesis of the vaginal tumors is unclear. We studied the immunohistochemical profile of 13 examples to explore their histogenesis and determine whether their immunohistochemical profile might be useful in the differential diagnosis. The panel of antibodies used and the number of cases studied were: AE1/3 (12), cytokeratin 7 (CK7) (13), cytokeratin 20 (CK20) (13), epithelial membrane antigen (EMA) (13), muscle actin (MA) (12), desmin (11), h-Caldesmon (13), CD10 (13), CD34 (11), CD99 (8), and S-100 (7). Eight out of 12 tumors were positive for AE1/3, 7/13 for CK7, 2/13 for CK20, and 6/13 for EMA. MA was positive in 11/12 mixed tumors, desmin in 10/11 tumors and h-Caldesmon in 5/13. All tumors were extensively positive for CD10; CD34 was positive in 7/11; and none out of eight tumors showed membranous CD99 staining. Focal S-100 immunoreactivity was seen in 1/7 tumors. These results show that MTsV coexpress epithelial and mesenchymal markers. The expression of muscle actin (usually extensive), and focal desmin and h-Caldesmon positivity suggests the presence of a smooth muscle or myoepithelial component; however, the S-100 negativity and diffuse CD10 expression argue against it. Positivity for muscle markers does not help distinguish MTsV from smooth muscle or skeletal muscle tumors. The frequent expression of CD10 negates its use in the differential diagnosis with endometrial stromal tumors, and the CD10 and CD34 expression suggests that mixed tumors may arise from a primitive pluripotential cell. MTsV are positive for h-Caldesmon and CD10, two markers that have been used in gynecologic pathology primarily to aid in establishing the smooth muscle or endometrial stromal phenotype of a neoplasm.     

免疫组化标记在子宫间质肿瘤诊断中的应用价值

目的探讨免疫组化标记在子宫间质肿瘤中的表达及诊断价值。方法采用免疫组化S-P法对21例子宫内膜间质肿瘤、8例子宫平滑肌肿瘤、5例子宫内膜腺癌、4例腺肌瘤及6例正常子宫内膜标本进行CD10及SMA、desmin、cK(pan)等相关标记检测。结果16例(76．19％)子宫内膜间质肿瘤CD10呈弥漫表达，5例(23．81％)呈散在灶性表达。平滑肌肿瘤SMA和desmin呈弥漫阳性。结论cD10在子宫内膜间质及间质肿瘤中100％表达，是诊断子宫间质肿瘤比较特异抗体。子宫间质肿瘤可向平滑肌等多个方向分化而表现出多种抗原表达，除了用CD10来确定细胞特性外，结合SMA、desmin等标记可增加其特异性。