Extrarenal teratoid Wilms' tumor: Two cases in unusual locations, one associated with elevated serum AFP

Teratoid Wilms' tumor is an unusual morphological entity characterized by a classic triphasic malignancy with predominantly heterologous tissue. The authors describe two cases of teratoid Wilms' tumor with an extrarenal site: one in a 13-year-old girl with vaginal spotting (patient 1) and another in a 1-day-old girl with a sacrococcygeal mass (patient 2). The tumors were located in the vagina and coccyx, respectively. Under the initial clinical diagnosis of sarcoma botryoides in patient 1 and teratoma in patient 2, the masses were removed. Microscopically, both tumors were composed of typical triphasic Wilms' tumor tissue with primitive cartilage and skeletal muscle, and squamous and columnar mucinous epithelia. The patient with sacrococcygeal mass (patient 2) had an elevated serum AFP level. The patients were given chemotherapy and have now remained disease free for 7 years 1 month, and 2 years 5 months after surgery, respectively. Familiarity with this rare variant of Wilms' tumor might be important in arriving at a correct diagnosis.     

Extrarenal Wilms' tumor with cerebellar metastasis in a four-year-old girl with spina bifida

This report documents the occurrence of an extrarenal nephroblastoma from which a cerebellar metastasis developed in a four-year-old girl with spina bifida. The second tumor became symptomatic two years after the resection of the primary, suggesting a treatment effect as a factor for the delay in the growing of the metastatic neoplasm. Histologic and ultrastructural features of the metastasis were similar to those described in Wilms' tumors of the kidney. The pathogenesis of this exceptional association, including malformation, malignancy, and unusual site of metastasis, is discussed.     

'Rhabdoid' Wilms' tumor: an ultrastructural study

We studied a 5-week-old infant who had a "rhabdoid" Wilms' tumor. Ultrastructural studies disclosed aggregates of cytoplasmic filaments that seemed to correspond with the eosinophilic cytoplasmic bodies seen by light microscopy, but did not uncover evidence of rhabdomyoblastic differentiation. The histogenesis of this subtype was not established, but origin from the metanephric blastema could not be ruled out.     

恶性孤立性纤维性肿瘤4例临床病理分析

目的探讨恶性孤立性纤维性肿瘤(malignant solitary fibroustumor,MSFT)的临床病理特征、组织发生、诊断、鉴别诊断、治疗及预后。方法报道4例罕见的MSFT,并结合文献进行复习。结果女性2例,男性2例,年龄22岁～63岁,中位年龄42.5岁。发生部位:中枢神经系统2例,临床表现为头痛、头晕和恶心等;胸腔2例,无明显症状,体检发现。肿块直径3～14cm,平均8.5cm。镜检:低倍镜下肿瘤细胞分布疏密不均。密集区肿瘤细胞丰富,呈束状、漩涡状或不规则状排列,可见血管外皮瘤样结构;瘤细胞梭形、短梭形,核染色质粗且不均匀,异型性明显,核分裂象多见(4个/10HPF),局灶出血坏死。疏松区细胞稀少,纤维化伴黏液变性。免疫表型:肿瘤细胞Bcl-2、CD99、vimentin弥漫阳性;CD34、MSA、α-SMA、h-caldesmon局灶阳性,Ki-67增殖指数25%～50%;EMA、CD117、GFAP和S-100阴性。结论 MSFT非常罕见,确诊主要依赖病理形态学和免疫表型,需与滑膜肉瘤、脑膜瘤、恶性外周神经鞘膜瘤、恶性纤维组织细胞瘤和纤维肉瘤等相鉴别。MSFT的预后不佳,易复发和转移,手术完整切除后,应注意随访。     

Extrarenal Wilms' tumor in the adult patient. A case report and review of the world literature

A case of an extrarenal Wilms' tumor arising in the retroperitoneal region of a 49-year-old male is reported. A review of the world literature indicates that the incidence of the tumor arising in the extrarenal region is extremely rare. A total of 14 cases have previously been reported, but the number of cases that occurred in adult patients is only 2. The clinical and pathologic features are briefly discussed.     

Primary seminal vesicle carcinoma: an immunohistochemical analysis of four cases.

Primary adenocarcinoma of the seminal vesicles is an extremely rare neoplasm. Because prompt diagnosis and treatment are associated with improved long-term survival, accurate recognition of this neoplasm is important, particularly when evaluating limited biopsy material. Immunohistochemistry can be used to rule out neoplasms that commonly invade the seminal vesicles, such as prostatic adenocarcinoma. Previous reports have shown that seminal vesicle adenocarcinoma (SVCA) is negative for prostate-specific antigen (PSA) and prostate-specific acid phosphatase (PAP); however, little else is known of its immunophenotype. Consequently, we evaluated the utility of cancer antigen 125 (CA-125) and cytokeratin (CK) subsets 7 and 20 for distinguishing SVCA from other neoplasms that enter the differential diagnosis. Four cases of SVCA-three cases of bladder adenocarcinoma and a rare case of adenocarcinoma arising in a mullerian duct cyst-were immunostained for CA-125, CK7, and CK20. Three of four cases of SVCA were CA-125 positive and CK7 positive. All four cases were CK20 negative. All bladder adenocarcinomas and the mullerian duct cyst adenocarcinoma were CK7 positive and negative for CA-125 and CK20. In addition, CA-125 immunostaining was performed in neoplasms that commonly invade the seminal vesicles, including prostatic adenocarcinoma (n = 40), bladder transitional cell carcinoma (n = 32), and rectal adenocarcinoma (n = 10), and all were negative for this antigen. In conclusion, the present study has shown that the CK7-positive, CK20-negative, CA-125-positive, PSA/PAP-negative immunophenotype of papillary SVCA is unique and can be used in conjunction with histomorphology to distinguish it from other tumors that enter the differential diagnosis, including prostatic adenocarcinoma (CA-125 negative, PSA/PAP positive), bladder transitional cell carcinoma (CK20 positive, CA-125 negative), rectal adenocarcinoma (CA-125 negative, CK7 negative, CK20 positive), bladder adenocarcinoma (CA-125 negative), and adenocarcinoma arising in a mullerian duct cyst (CA-125 negative).     

Salivary duct carcinoma: an analysis of four cases with review of literature

Salivary duct carcinoma (SDC) is a histologically distinctive neoplasm of the parotid gland. The criteria for the diagnosis of SDC are circumscribed epithelial nests having a papillary, cribriform, and/or solid architecture coupled with central necrosis. The infiltrating cancer can be papillary, resembling the intraductal component or have a nonspecific, undifferentiated pattern. The authors are presenting four cases and compare them with 11 other acceptable cases from the literature. The neoplasm occurs beyond the age of 50 (median 63 years) and has a dismal prognosis with nearly two-thirds of the patients developing distant metastases. All surviving patients have been treated with combined parotidectomy and radiotherapy.     

229例肾细胞肿瘤的临床病理学分析

目的研究肾细胞肿瘤的临床表现、组织学分型、形态学特征及预后。方法复习229例连续肾细胞肿瘤的临床资料、大体标本、HE切片、免疫组化染色结果,按2004年WHO肾细胞肿瘤分类标准重新分类,并随访。结果229例肾细胞肿瘤占同期肾实质肿瘤89.1%(229/257),其中223例(97.4%)为肾细胞癌,6例(2.6%)为肾嗜酸细胞腺瘤。肾细胞癌中,透明细胞癌180例(78.6%),乳头状肾细胞癌19例(8.3%),嫌色细胞癌13例(5.7%),1例嫌色细胞癌伴肉瘤变,多房性囊性肾细胞癌6例(2.6%),Xp11.2易位/TFE3基因融合相关肾细胞癌2例(0.9%),未能分类的肾细胞癌2例(0.9%),集合管癌1例(0.4%)。透明细胞癌5年生存率为75.5%;乳头状肾细胞癌5年生存率为80%;嫌色细胞癌随访6例,随访期8~57个月,1例于57个月后死于肿瘤转移;多房性囊性肾细胞癌随访2~40个月,无复发和转移。结论肾细胞肿瘤是一组形态学上各有特征的异质性肿瘤,以恶性为主,其中透明细胞癌、乳头状肾细胞癌、嫌色细胞癌最常见。不同类型肾细胞癌预后不同。WHO肾细胞癌的组织学分型有其实用性和先进性。     

Bilateral Wilms' tumor: a clinicopathologic review

Bilateral Wilms' tumor occurs at a younger age than unilateral disease. While it generally has a good prognosis, it presents a therapeutic dilemma to balance curative surgical resection with preservation of renal tissue. A 15 year review of bilateral Wilms' tumors diagnosed at Princess Margaret Hospital was undertaken. Of 46 Wilms' tumor cases, eight were designated bilateral by diagnostic imaging (median age 1.1 years compared with 3.5 years for unilateral tumors). The surgical management entailed primary nephrectomy with contralateral biopsy in two patients, and bilateral biopsy and delayed resection in all remaining surviving patients (one patient died of perioperative complications). Seven patients had localized disease (stage I/II) and the six surviving patients received chemotherapy with vincristine and actinomycin; no patient received radiotherapy. All are alive and well (median follow-up 5.1 years). The remaining patient presented with pulmonary metastases and died of disease progression. Pathologic review revealed that four patients had truly bilateral disease demonstrable by histology, three had unilateral Wilms' tumor with contralateral nephrogenic rests, and in one patient the biopsies of the contralateral kidney showed neither tumor nor nephrogenic rests. In most cases pathological material was subject to external review. Follow-up demonstrates excellent renal function with compensatory hypertrophy in the remaining renal tissue. Conservative surgery and simple out-patient based, low toxicity chemotherapy is curative in most patients.     

The cytogenetics of Wilms' tumor

A close association has been demonstrated between the congenital deletion 11p13 and predisposition to Wilms' tumor. Recent cytogenetic studies on Wilms' tumor cells from normal children strongly suggests that somatic changes in the short arm of chromosome #11 play an important role in the development of this tumor. The application of improved cytogenetic techniques coupled with molecular biologic analysis may help resolve questions regarding the requirement of additional changes (to alterations of 11p13) in order to evoke complete transformation leading to malignancy.     

Glomus tumor and knee pain: A report of four cases

We present four cases of glomus tumors presenting as knee pain. All cases were treated by surgical excision of the tumor. All patients made an immediate recovery with return to full normal function.The presentation of this is unique in that the patient has exquisite pain and tenderness when the area affected is palpated. Occasionally, local infiltration or an ischaemia test can assist with diagnosis. To our knowledge, this is the largest case series in the literature.     

Cytokeratin expression in mucinous sweat gland carcinomas: an immunohistochemical analysis of four cases

Four mucinous sweat gland carcinomas were examined for the distribution of cytokeratin (CK) polypeptides using immunohistochemical techniques on paraffin-embedded sections. All the tumour specimens reacted with monoclonal antibodies to CK 7, CK 8, CK 18 and CK 19. Antibodies to CK 1, CK 1/2/10/14, CK 1/5/10/11, CK 13, CK 14 and CK 20 did not stain any of the carcinomas. The results add additional support to the notion that mucinous sweat gland carcinoma represents a tumour histogenetically related to the eccrine secretory coil. Furthermore, the absence of CK 20 might significantly contribute to the differentiation of this tumour from cutaneous metastases from gastrointestinal carcinomas.     

Wilms' tumor of the endocervix

We report a case of primary Wilms' tumor of the endocervix in a 13-year-old girl. The tumor was polypoid, filled the vagina, and was attached to the endocervix by a stalk. Microscopic examination disclosed blastematous, epithelial, and stromal elements characteristic of Wilms' tumor. The patient's kidneys were normal on intravenous pyelographic examination and on palpation at laparotomy, and she has remained free of disease for 9.6 years after hysterectomy.     

Glomerulus-like structures in Wilms' tumor

Twenty-three cases of Wilms' tumour with numerous glomerulus-like structures (GLS) were studied. 74% children were admitted to the hospital with metastases or the latter developed within 2-3 months after a surgical operation. 5 out of the 8 children with bilateral Wilms' tumours had in the tumours an increased number of the GLS. There are some features which allow the GLS to be distinguished from the true renal corpuscles: the absence of capillaries and mesangium, structural polymorphism the presence of several pseudopapillae originating from different areas of the capsule. The possibility is shown to use these criteria in the differential diagnosis of renal sarcomas in children and sarcomatous variants of Wilms' tumour, in the determination of pseudocapsule infiltration and the degree of tumour tissue survival after the active therapy.     

Neuroleptic malignant syndrome: an experience of four cases

We report four cases of neuroleptic malignant syndrome occurring after administration of a typical antipsychotic haloperidol and a newer atypical antipsychotic clozapine. The management of these patients is discussed.