Renal pelvis urothelial carcinoma of the upper moiety in complete right renal duplex: a case report

Urothelial carcinoma (UC) originated from renal pelvis is the common tumor of the urinary system, however, neoplasia of the renal pelvis in duplex kidneys is extremely rare, especially in the complete renal and ureteral duplex cases. We present the first case of renal pelvis UC of the upper moiety in a complete right renal duplex. This male patient has bilateral complete renal and ureteral duplex. To the best of our knowledge, this is the first reported case of renal pelvis UC in a complete renal duplex system. After this experience we feel that the diagnosis of renal pelvis UC in duplex kidneys is not so easy, and once the diagnosis is determined, the whole renal duplex units and bladder cuff or ectopic orifice should be excised radically.     

Needle aspiration cytology of low-grade transitional cell carcinoma of the renal pelvis

Five cases of histologically confirmed grade 1 papillary transitional cell carcinoma of the renal pelvis investigated by needle aspiration biopsy cytology were reviewed. In all cases the needle aspirates were hypercellular. Abundant benign-appearing urothelial cells in thick clusters, in small aggregates, and singly were seen in two cases. Numerous single and loosely aggregated urothelial cells with cytoplasmic extensions and slightly pleomorphic nuclei were noted in one case. In two patients numerous urothelial fragments of variable sizes showing defined cytoplasm and mildly nuclear pleomorphism were the main cellular findings. Diagn. Cytopathol. 16:437–441, 1997. © 1997 Wiley-Liss, Inc.     

Renal cell carcinoma with rhabdoid features: an aggressive neoplasm

AIMS: Only a few reports on renal cell carcinoma with rhabdoid features have been published. This study was performed to investigate the clinicopathological characteristics of renal cell carcinomas with rhabdoid features. METHODS AND RESULTS: Among 253 cases of renal cell carcinoma in adults, eight cases with rhabdoid features were detected. Rhabdoid areas ranged from 10% to 90% of each of the cases. Seven of the eight cases were TNM stage III or IV, and four of the eight cases died within 8 months of surgery. Immunohistochemically, the rhabdoid areas were positive for CAM 5.2 (4/8), AE1/AE3 (6/8), epithelial membrane antigen (6/8) and vimentin (8/8), and negative for myogenetic markers (0/8). The mean MIB-1 labelling index in the rhabdoid areas was higher than that in the definite carcinomatous areas. Ultrastructurally, perinuclear whorls of intermediate filaments were demonstrated in three of the eight cases using paraffin-embedded blocks. CONCLUSIONS: The rhabdoid areas in renal cell carcinoma have histological, immunohistochemical and ultrastructural similarities to malignant rhabdoid tumours. Renal cell carcinoma with rhabdoid features is a highly aggressive neoplasm and its malignant behaviour may be due to the high cell-proliferative activity of the rhabdoid areas. Rhabdoid features in renal cell carcinoma may represent the endpoint of clonal evolution of renal cell carcinoma (especially in clear cell type cases).     

Urothelial carcinoma with rhabdoid features: report of 6 cases

Extrarenal rhabdoid tumors have been described in a variety of primary sites with only rare case reports of urothelial carcinomas with rhabdoid features in the literature. In this report, we describe the clinicopathologic characteristics, including clinical follow-up on 6 cases of urothelial carcinoma with prominent rhabdoid features. Four cases were retrieved from the consultation files of one of the authors and 2 were retrieved from the surgical pathology files at our institution. The patients were all men, with ages ranging from 53 to 86 years (mean, 66.5 years). Patients initially presented with hematuria or obstructive symptoms. The sites included bladder (n = 4) and renal pelvis (n = 2). All cases had a prominent rhabdoid component (mean, 60%), ranging from 40% to 80%. In addition to the rhabdoid component, multiple coexistent histological components were seen, including in situ urothelial carcinoma (carcinoma in situ) and high-grade papillary urothelial carcinoma (n = 2), poorly differentiated carcinoma with small-cell features (n = 1), sarcomatoid (n = 2), and a myxoid component (n = 2). All cases in this series had focal or diffuse positive staining with one or more cytokeratin markers (epithelial membrane antigen, CAM 5.2, AE1/AE3). Of the 6 patients, 4 were treated initially with surgery (radical cystoprostatectomy, n = 2; radical nephrectomy, n = 2). Of 6 patients, 2 died within 1 month, whereas a third patient died within 4 months. The remaining 3 patients were alive at 3, 3, and 9 months after diagnosis. The histological and immunohistochemical findings in this study serve to broaden the morphological spectrum of urothelial carcinomas with prominent rhabdoid features and add further evidence as to their poor prognosis.     

Anaplastic carcinoma of the pancreas with rhabdoid features

The malignant rhabdoid tumor (MRT) is histologically characterized by the invasive proliferation of polygonal to ovoid cells with abundant eosinophilic cytoplasm and eccentric vesicular nuclei with a prominent nucleolus. MRT frequently occurs in the kidney, but may also arise in other organs. However, MRT should be strictly distinguished from carcinomas with rhabdoid features. A post-mortem examination of a 68-year-old woman found an anaplastic carcinoma of the pancreas with rhabdoid features displaying extensive invasion into the neighboring tissues. To the best of our knowledge, this is the first case of a pancreatic tumor with rhabdoid features. Pathologists should consider that carcinomas showing rhabdoid features may also appear in the pancreas. As pancreatic tumors with rhabdoid features have characteristic histopathological features and poor prognosis compared to other pancreatic tumors, careful histopathological differential diagnosis is important.     

Undifferentiated carcinoma of the renal pelvis with osteoclast‐like giant cells: a report of two cases

McCash SI, Unger P, Dillon R, Xiao G‐Q. Undifferentiated carcinoma of the renal pelvis with osteoclast‐like giant cells: a report of two cases. APMIS 2010; 118: 407–12. Undifferentiated carcinoma with osteoclast‐like giant cells arising in the urothelium of the bladder or upper urinary tract is an extremely rare entity. The majority of cases found in the renal pelvis and bladder are associated with either an in situ urothelial malignancy or a conventional high‐grade urothelial carcinoma. These malignancies tend to behave poorly with a grim prognosis and course. We report two additional cases of undifferentiated carcinoma with osteoclast‐like giant cells of the renal pelvis in two patients disease free 42 and 18 months after surgical treatment, respectively.     

Anaplastic thyroid carcinoma with rhabdoid features

Anaplastic thyroid carcinoma (ATC) is a rare, highly aggressive neoplasm, characterized by complete or partial composition by undifferentiated cells. We report a case of ATC with rhabdoid features in a 68‐year‐old male, who presented with a rapidly enlarging neck mass. Fine‐needle aspiration (FNA) of the thyroid mass showed discohesive, pleomorphic round to polygonal rhabdoid cells with one to multiple eccentric, large, rounded nuclei with a prominent nucleolus, moderate to abundant, globoid cytoplasm which oftentimes harbor a pale para‐nuclear inclusion. The cytoplasm of some cells contained variously sized, eosinophilic granules. Rare cells contained neutrophils in their cytoplasm. Mitoses including atypical mitotic figures and necrosis were readily seen. Histologic examination of needle core biopsy (NCB) revealed individual dispersed and sheets of pleomorphic neoplastic cells with similar cytomorphologic features as described above. The tumor extensively infiltrated a myxocollagenous stroma containing lymphocytes and neutrophils, and demonstrated foci of necrosis. Tumor cells were immunoreactive for keratins AE1/AE3, CAM5.2, and CK19; PAX‐8, and p63, but negative for S‐100, HMB‐45, calcitonin, TTF‐1, thyroglobulin, CD56, HBME‐1, glypican‐3, PAX‐5, myogenin, CD31, and INI‐1. The differential diagnosis of this malignant rhabdoid tumor is discussed. Diagn. Cytopathol. 2015;43:416–420. © 2015 Wiley Periodicals, Inc.     

Sarcomatoid carcinoma of the renal pelvis: a case report

A case of sarcomatoid carcinoma of the renal pelvis is reported. A 72-year-old male was admitted with a chief complaint of right flank pain. Clinical imaging studies revealed marked dilation of the right renal pelvis caused by a tumor at the pyeloureteric region. Right nephrectomy was performed in June 1999. The 8.4 x 6.5 cm tumor was grossly polypoid in appearance and protruded into the renal pelvis. Histologically, sarcomatoid spindle cells predominated over the carcinomatous component (mainly transitional cell carcinoma, partly associated with squamous cell and adenocarcinoma components). Osteoclast-like CD68-positive multinucleated giant cells were scattered. The sarcomatoid component was immunoreactive for both cytokeratin and vimentin. Sarcomatoid cells negative for cytokeratin were also noted. In both the sarcomatoid and carcinomatous components, nuclear overexpression of p53 oncoprotein was confirmed. The histogenesis of sarcomatoid carcinoma of the renal pelvis is discussed.     

Cytopathology of retrograde renal pelvis brush specimens: An analysis of 40 cases with emphasis on collecting duct carcinoma and low-intermediate grade transitional cell carcinoma

We report our experience with 40 retrograde renal brush samples of pelvic-calyceal lesions with confirmatory tissue studies. On-site cytopathologic evaluation was performed in 38 of these specimens. The final histologic diagnoses included 24 cases of transitional cell carcinoma (TCC), 17 of which were low-intermediate grade tumors. All 24 cases were diagnosed cytologically as TCC (22), or as suspicious for TCC (2). Three cases classified as collecting duct carcinomas were resected; the cytologic specimens in 2 of these cases were interpreted as TCC, and one as reactive change. There were three renal cell carcinomas (RCC); cytologically, one was considered a papillary neoplasm, one suspicious for malignancy, and one as reactive. Two cases of atypical renal cysts were reported as suspicious for malignancy in both cytologic and histologic material. There was one case of metastatic colon carcinoma identified in the brush specimen. Finally, tissue studies in the remaining 7 cases showed reactive/inflammatory changes; however, four of the corresponding pelvic brush specimens were considered abnormal. A review of the above cases is reported with the objective of presenting the cytologic features seen in collecting duct carcinoma, low-intermediate grade TCC, and diagnostically difficult cases with cyto/histomorphologic discrepancies. The contribution of on-site assessment to diagnostic accuracy is also discussed. Diagn Cytopathol 1996;15:312–321. © 1996 Wiley-Liss, Inc.     

Nested variant of urothelial carcinoma of the renal pelvis

The nested variant of urothelial carcinoma is an uncommon form of urothelial carcinoma with distinctive histopathologic features. The majority of cases of this unusual type of urothelial carcinoma have been described in the urinary bladder, with examples of this neoplasm involving the upper urinary tract being extremely limited. The present report details the clinical and pathologic features of an unusual case of a nested variant of urothelial carcinoma occurring in the renal pelvis of a 71-year-old woman. The tumor was characterized by a nested pattern of growth and relatively bland cytologic features, and presented with locally advanced disease at the time of nephroureterectomy. Although rare, awareness that the nested variant of urothelial carcinoma may occur at this particular site is important so as not to confuse this unusual form of urothelial carcinoma with other pathologic lesions of the renal pelvis.     

Histogenesis of sarcomatoid urothelial carcinoma of the urinary bladder: evidence for a common clonal origin with divergent differentiation

The histogenesis of sarcomatoid urothelial carcinoma, a rare neoplasm with bidirectional epithelial and mesenchymal differentiation, has been a matter of controversy. To clarify its origin, we analysed the status of X-chromosome inactivation in sarcomatoid urothelial carcinomas from 10 female patients and examined losses of heterozygosity (LOH) in these specimens and in additional 20 tumours from male patients. Six polymorphic microsatellite markers where genetic alterations occur frequently in early or advanced stages of urothelial carcinomas, including D3S3050, D8S261, IFNA, D9S177, D11S569 and TP53, were investigated in the current study. The identical pattern of non-random X-chromosome inactivation in both carcinomatous and sarcomatous components was identified in five of eight informative female patients, and the remaining three informative cases showed a random, but concordant, pattern of X-chromosome inactivation. The concordant X-chromosome inactivation results in all eight informative cases support the concept of a monoclonal origin of both components of this biphasic neoplasm. Among the tumours demonstrating loss of heterozygosity, high incidences of an identical pattern of allelic loss between carcinomatous and sarcomatous components were identified in genetic alterations associated with early carcinogenesis: 86% at D8S261, 78% at D11S569, 75% at D9S177 and 57% at IFNA. In contrast, concordant LOH patterns were less frequently observed for microsatellites related to advanced carcinogenesis: only 40% at D3S3050 and 40% at TP53. The significant overlap of loss of heterozygosity supports a monoclonal cell origin and suggests that clonal divergence may occur during tumour progression and differentiation. Divergent patterns of discordant allelic loss of microsatellite markers imply that heterogeneous pathogenetic pathways may exist in the evolution of this enigmatic neoplasm.     

伴横纹肌样特征的肾细胞癌的临床病理特征

目的探讨伴横纹肌样特征的肾细胞癌（RCC）的临床病理特征。方法对1995—2005年南京军区南京总医院常规外检档案352例RCC中的10例伴横纹肌样特征的RCC进行了光镜、免疫表型检测和超微结构观察,并结合临床病理特征进行分析。结果10例伴横纹肌样特征的RCC患者年龄33．69岁（平均年龄52岁）,男9例,女1例。5例肿瘤侵犯肾包膜,2例伴淋巴结转移,1例伴肺转移。组织学观察,10例伴横纹肌样特征的RCC中透明细胞型9例,乳头型1例,均可见不同程度的具横纹肌样特征的瘤细胞区域。横纹肌样特征的瘤细胞排列成梁索状、腺泡样、器官样或团片状,瘤细胞散在分布,细胞间无黏附或黏附性差,呈类圆形或多角形,核泡状、偏位,核仁突出,胞质内见红染均质包涵体样物,瘤组织常伴明显坏死。免疫组织化学观察,具横纹肌样特征的瘤细胞CD10、CK（AE1／AE3）、上皮细胞膜抗原（EMA）、波形蛋白均阳性表达,CK7、CK20、结蛋白、肌细胞生成素、α-平滑肌肌动蛋白（α-SMA）、肌肉特异性肌动蛋白（MSA）均阴性表达,神经元特异性烯醇化酶（NSE）、S-100蛋白灶性阳性表达。横纹肌样瘤细胞区Ki-67阳性表达较周围经典型瘤细胞区增高,两者比较差异有统计学意义（P〈0．05）。随访8例,2例于术后6个月及29个月死亡,6例存活。结论伴横纹肌样特征的RCC主要见于透明细胞型,应与胞质嗜酸的肾细胞肿瘤和肾恶性横纹肌样瘤等相鉴别。RCC中伴横纹肌样特征的瘤细胞较周围经典型瘤细胞Ki-67表达明显增高,可能与此类肿瘤临床生物学行为更具侵袭性有关。     

Human epidermal growth factor receptor 2 expression in urothelial carcinoma of the renal pelvis: correlation with clinicopathologic parameters

The significance of human epidermal growth factor receptor 2 (HER2) overexpression in breast cancer is well established, and these patients are subsequently treated with Trastuzumab. Although HER2 expression in urothelial carcinoma of the urinary bladder has also been recently characterized, it has not been well studied in urothelial carcinoma of the renal pelvis. We investigated the relationship between HER2 overexpression in urothelial carcinoma of the renal pelvis and clinicopathologic parameters. Forty six cases were identified. HER2 overexpression was present in 34/46 (74%) cases. Mean patient age with HER2 overexpression was 68 years (range: 42-87 years). There was a male predominance with 28/34 (82%) patients. High grade urothelial carcinoma was present in 32/34 (94%) cases and 2/34 (6%) cases had low grade urothelial carcinoma. Pathologic staging was as follows; 9/34 (26%) cases were pTa, 10/34 (29%) cases were pT1, 2/34 (6%) cases were pT2, 12/34 (35%) cases were pT3, and 1/34 (3%) cases was pT4. An inverted growth pattern was present in 23/46 (50%) cases. HER2 overexpression was present in 15/23 (65%) cases of urothelial carcinoma with an inverted growth pattern. Our study showed that HER2 overexpression is more common in male patients with high grade urothelial carcinoma, especially those with an inverted growth pattern. It is highly conceivable that patients with urothelial carcinoma of the renal pelvis may be further stratified based on HER2 overexpression, and may also be potential candidates for Trastuzumab therapy in the neoadjuvant or adjuvant setting.     

Urothelial carcinoma with oncocytic features: an extremely rare case presenting a diagnostic challenge in urine cytology

Recognizing histological variants in urothelial carcinoma (UC) is important because some may be associated with different clinical outcomes and/or therapeutic approaches; being aware of unusual histological variants may also be crucial in preventing diagnostic misinterpretations. Histological variants based on cytoplasmic features, such as clear-cell, plasmacytoid, rhabdoid, and lipoid-rich variants, are described in invasive UC; however, these cytoplasmic features are not formally defined and not usually encountered in non-invasive UC. Oncocytic cytoplasm has not been well described in either invasive or non-invasive UC. Herein, we report an exceedingly rare case of UC with oncocytic features arising in the right renal pelvis, which presented a diagnostic challenge in urine cytology due to the relatively low nuclear-to-cytoplasmic ratio; however, it could definitively be diagnosed using histological specimens. UC diagnosis is based on the presence of papillary architecture and widespread p53 nuclear accumulation, suggesting malignancy. An oncocytic tumor is generally considered to be not actively dividing, as shown by the low Ki-67 labeling index in this case. In spite of the low proliferative activity, the possibility of intravesicle recurrence (IVR) should be considered since positive preoperative cytology of upper tract UC is a risk factor for IVR after nephroureterectomy.     

A case of large cell neuroendocrine carcinoma exhibiting rhabdoid features in the esophagogastric junction

We report a case of large cell neuroendocrine carcinoma with rhabdoid features in the esophagogastric junction. An 81‐year‐old man presented to Saku Central Hospital Advanced Care Center with a tumor in the esophagogastric junction. During upper gastrointestinal endoscopy, an ulcerative tumor, measuring 4 × 3 cm in diameter, was observed. Computed tomography revealed lymph node metastasis, but no metastasis to other organs was observed. A thoracoscopic subtotal esophagectomy was performed. Histopathologically, anaplastic large cells exhibited a solid growth pattern with focal and geographic necrosis. Approximately half of the tumor cells exhibited large nuclei with conspicuous nucleoli; an eosinophilic “rhabdoid” cytoplasmic inclusion; and a nucleus displaced eccentrically by the cytoplasmic inclusion body. Immunohistochemically, tumor cells, including rhabdoid cells, were focally positive for pan‐cytokeratin and diffusely positive for vimentin and synaptophysin. Additionally, electron microscopy identified dense‐core granules in the tumor cells. Therefore, a diagnosis of large cell neuroendocrine carcinoma with rhabdoid features was made. A few cases of esophageal neuroendocrine tumors with rhabdoid features have been reported in the lung and pancreas; however, this is the first report of large cell neuroendocrine carcinoma with rhabdoid features in the esophagogastric junction.     

Large cell carcinoma of the lung with a rhabdoid phenotype

A variant of large cell carcinoma showing a rhabdoid phenotype, which is rare among primary lung cancers, is presented. A 59-year-old man was admitted to hospital for an operation. Computed tomography scans showed a mass with a smooth border, invading the thoracic wall. A right upper lobe lobectomy was carried out with resection of a part of the thoracic wall. Pathological examination showed that the tumor was mostly composed of cells with prominent eosinophilic cytoplasmic globules and giant cells, which did not adhere to each other. Cytologically, the tumor cells contained nuclei with a reticular chromatin pattern and one to two prominent nucleoli, and hyaline-like and reticular inclusion bodies, which were immunohistochemically positive for vimentin, but not for alpha-smooth muscle actin, myoglobin or pan-actin. Radiological and laboratory examinations did not detect the presence of the tumor in other organs, indicating that the primary lesion was not situated elsewhere. Metastasis to the right adrenal gland was observed 1 year and 4 months after the operation; however, the patient has been free of the disease 3 years and 11 months after the second operation of an adrenalectomy. This case showed a relatively good prognosis, which is rare among rhabdoid tumors of various organs that generally have poor prognoses with rapid, fatal progression.     

Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma

Four cases of late onset clear cell renal cell carcinoma (RCC), a case of gastric cancer, and a case of exocrine pancreatic cancer were identified in a Japanese family. In order to elucidate the underlying mechanism for tumorigenesis in this family, extensive genetic studies were performed including routine and spectral karyotyping (SKY), fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), loss of heterozygosity studies (LOH), and VHL mutation analysis. A germline translocation t(1;3)(q32-q41;q13-q21) was identified by karyotyping in five members of the family including all three RCC cases tested. The translocation was refined to t(1;3)(q32;q13.3) by FISH analysis using locus specific genomic clones, and the two breakpoints were mapped to a 5 cM region in 3q13.3 and a 3.6 cM region in 1q32. Both CGH and allelotyping using microsatellite markers showed loss of the derivative chromosome 3 carrying a 1q segment in the three familial RCCs analysed. Additional chromosomal imbalances were identified by CGH, including amplifications of chromosomes 5 and 7 and loss of 8p and 9. No germline VHL mutation was found but two different somatic mutations, a splice (IVS1-2A>C) and a frameshift (726delG), were identified in two RCCs from the same patient confirming their distinct origin.Taken together, these results firmly support a three step model for tumorigenesis in this family. A constitutional translocation t(1q;3q) increased the susceptibility to loss of the derivative chromosome 3 which is then followed by somatic mutations of the RCC related tumour suppressor gene VHL located in the remaining copy of chromosome 3.


Keywords: familial renal cell carcinoma; translocation; von Hippel-Lindau disease; loss of heterozygosity     

Rhabdoid variant of urothelial carcinoma of the urinary bladder: a case report with emphasis on immunohistochemical analysis regarding the formation of rhabdoid morphology

Various histological variants of urothelial carcinoma (UC) have been described. They are associated with different clinical outcomes and/or therapeutic approaches; in addition, recognition of these histological variants is also important in preventing diagnostic misinterpretations. Histological variants based on cytoplasmic features, such as plasmacytoid, rhabdoid, clear-cell, and lipoid-rich variants, have been described in invasive UC. Herein, we report an exceedingly rare case of a rhabdoid variant of UC arising in the urinary bladder of a 61-year-old man. Including UC, the presence of rhabdoid cells has been described in various types of malignant tumors. These tumors are regarded as more aggressive neoplasms than those without rhabdoid cells. It has been previously found that non-degraded aggregation of intermediate filaments and membrane proteins conjugated with ubiquitin and p62 is a noticeable finding in the formation of rhabdoid morphology. We have validated the existence of this mechanism in a rhabdoid variant of UC by extensive immunohistochemical analysis.     

Sinonasal teratocarcinosarcoma with rhabdoid features

Sinonasal teratocarcinosarcoma (SNTCS) is a very rare tumor developed in the nasal cavity and paranasal sinuses. The rhabdoid phenotype represents an aggressive biological behavior, but the rhabdoid feature has hitherto not been reported in cases of SNTCS. A 46-year-old man complained of a 1-month history of left-sided nasal obstruction. Computed tomography scan and magnetic resonance imaging showed a tumor mass involving the left nasal cavity, ethmoid sinus, and ethmoid bone with extension to the left frontal lobe of the brain. A gross total resection of the mass was performed and postoperative radiation therapy administered. Seven weeks later, several recurring masses were detected in the left frontotemporal lobe of the brain. A gross total resection of the mass was performed and postoperative chemotherapy administered. Histopathologically, the tumor showed benign and malignant epithelial, mesenchymal, neural, and immature elements. In addition, diffuse sheets of rhabdoid cells were immunopositive for vimentin, nestin, neuron-specific enolase, and INI1. Ultrastructurally, rhabdoid cells showed paranuclear aggregates and whorls of intermediate filaments with a 9-10 nm diameter. In conclusion, we report first case of rhabdoid features in SNTCS. The present case showed an advanced stage and early recurrence; the rhabdoid component was probably responsible for this aggressive behavior.