肾透明细胞癌伴同侧肾上腺皮质腺瘤内转移1例及文献复习

目的：探讨1例肾透明细胞癌(clear-cell renal cell carcinoma,clear-cell RCC)伴同侧肾上腺皮质腺瘤内转移的临床病理特征及转移机制。方法：观察1例肾透明细胞癌转移至同侧肾上腺皮质腺瘤的临床表现、组织学特征、免疫组织化学特点,并复习相关文献。结果：患者,男性,63岁,右季肋部不适半月余入院。术后结果显示右肾透明细胞癌。单纯性孤立性肾囊肿。右肾上腺皮质腺瘤,瘤内见转移的肾透明细胞癌、直径约3 mm。结论：肾透明细胞癌转移至同侧肾上腺皮质腺瘤是非常罕见的现象。     

Merkel cell carcinoma metastatic to the thyroid gland: Aspiration findings and differential diagnosis

Clinically diagnosed metastasis to the thyroid gland is exceptionally rare and may present diagnostic issues on fine needle aspiration. The most common primary sites of metastases to the thyroid are cancers of the lung, breast, skin (especially melanoma), colon, and kidney. Herein, we report a case of metastatic Merkel cell carcinoma to the thyroid presenting as a 2.1‐cm solid nodule in a 50‐year‐old male with a previous history of Merkel cell carcinoma of the upper extremity. The aspirates were moderately to highly cellular featuring small to intermediate sized cells with scant to no cytoplasm, round‐to‐oval nuclei with finely dispersed chromatin, and predominantly arranged as scattered single cells. There was focal nuclear molding, numerous mitoses, and karyorrhectic nuclei. The differential diagnosis centered on the “small round blue cell” tumor group such as medullary thyroid carcinoma and non‐Hodgkin lymphoma. However, in light of our patient's previous history, the FNA findings were most consistent with a metastasis of Merkel cell carcinoma. In patients with a known history of a primary neoplasm, the differential diagnosis of a thyroid nodule should always include potential metastasis. Diagn. Cytopathol. 2010;38:754–757. © 2010 Wiley‐Liss, Inc.     

Cytology diagnosis of metastatic clear cell renal cell carcinoma,synchronous to pancreas,and metachronous to thyroid and contralateral adrenal: Report of a case and literature review

Renal cell carcinoma metastases to pancreas, thyroid, and contralateral adrenal gland are decidedly uncommon. Clear cell renal cell carcinoma (CCRCC) is the most frequent subtype. Cytology diagnosis may be challenging. A 74‐year‐old male with remote history of vocal cord malignancy and hypertension presented with abdominal pain. Computed tomography (CT) revealed 8.4 cm left renal mass highly suspicious for renal cell carcinoma, a 1.8 cm mass within vessels near left adrenal and a 2.5 cm mass in pancreatic tail. Right pulmonary middle lobe showed two small nodules. Metastatic CCRCC was diagnosed on preoperative transgastric, endoscopic ultrasound guided fine‐needle aspiration cytology of pancreatic tail mass. Left radical nephrectomy and distal pancreatectomy and splenectomy confirmed CCRCC (pT3bNxM1), with metastases in adrenal and pancreatic tail. The 3p deletion identification in pancreatic tumor suggested CCRCC origin. Follow‐up positron emission tomography‐CT (PET‐CT) scan revealed left thyroid lower pole mass. Thyroid ultrasound showed three clustered 6 mm nodules in left mid pole. Ultrasound‐guided fine needle aspiration (US‐FNA) biopsies, 4‐month post‐nephrectomy, were consistent with metastatic renal cell carcinoma in lower, and atypia of undetermined significance in mid poles respectively. Left lobectomy and isthmus and pyramidal lobe resections confirmed metastatic renal cell carcinoma. One year post‐radical nephrectomy, contralateral adrenal lesion noted on PET‐CT was interpreted as metastatic CCRCC on CT‐guided core biopsy with touch imprints. Rapid on‐site evaluation was implemented, and immunoprofile typical of CCRCC substantiated cytomorphology at all three sites. Previously reported cases of renal cell carcinoma metastases to organs as in the described case are reviewed as well. Diagn. Cytopathol. 2017;45:161–167. © 2016 Wiley Periodicals, Inc.     

Clear cell papillary renal cell carcinoma: Incidence,morphological features,immunohistochemical profile,and biologic behavior: A single institution study

This study was undertaken to determine the incidence and the clinicopathologic characteristics of those tumors that qualify as clear cell papillary renal cell carcinoma (CCPRCC) by the current definitions. From January 1, 2003 to April 30, 2013, a total of twenty-eight CCPRCC were identified (28/648, 4.3%). CCPRCC showed variable architectural patterns including cystic, papillary, tubular, and acinar. Irrespective of the architecture, the tumors were composed of cuboidal or columnar cells with clear cytoplasm, small vesicular, round or oval nuclei, and inconspicuous nucleoli. Variably thick bundles of smooth muscle actin-positive soft tissue encircled the whole tumors, forming a continuous pseudocapsule. CCPRCC strongly expressed PAX8, CA-IX, CK7, cytokeratin 34betaE12, and vimentin, and were negative for RCC, P504s/AMACR, and TFE3. On ultrastructural examination, CCPRCC showed short microvilli, cytoplasmic interdigitations, nuclear pseudoinclusions, and stromal myofibroblasts. To the best of our knowledge, this is first comprehensive ultrastructural study of CCPRCC in the literature. The major differential diagnostic considerations are clear cell renal cell carcinoma, multilocular cystic renal cell carcinoma, papillary renal cell carcinoma with clear cell changes, and Xp11.2 translocation renal cell carcinoma. CCPRCC seems to have a favorable prognosis. In the current series, none of the patients had local recurrence or metastatic disease.     

Spindle and cuboidal renal cell carcinoma,a tumour having frequent association with nephrolithiasis: report of 11 cases including a case with hybrid conventional renal cell carcinoma/ spindle and cuboidal renal cell carcinoma components

AIMS: We present the largest series of an unclassified subtype of renal cell carcinoma, which seems to be a distinct morphological entity and which is sometimes designated as spindle and cuboidal renal cell carcinoma. METHODS AND RESULTS: Eleven cases of spindle and cuboidal renal cell carcinoma were found among 7000 primary renal cell tumours in Pilsen's routine and consultation files. The patients were five men and six women. They ranged in age from 22 to 65 years (mean 56.8). Microscopically, the tumours were composed of two main populations of cells. First, the preponderant type of cells was formed by flattened, spindle cells with sparse cytoplasm. The second cell type was a small cuboidal cell with clear to light eosinophilic cytoplasm. Spindle-shaped cells were arranged in a fascicular pattern often reminiscent of low-grade smooth muscle tumours. Solid areas of spindle cells were also present. Small cuboidal cells formed sparse tubular structures lined by a row of single cells. In addition to all previous published cases of spindle and cuboidal renal cell carcinoma we observed an association of nephrolithiasis in our cases. It was seen in 3/11 of our patients. A previously unreported feature is the occurrence of a conventional renal cell carcinoma component in one of our cases. Seven of our patients are currently well without signs of recurrence or metastasis, one had metastasis in a regional lymph node at the time of nephrectomy, one died of an unrelated condition, and two were lost to follow-up. CONCLUSIONS: We present 11 cases of spindle and cuboidal renal cell carcinoma, which is believed to be a distinctive morphological entity. Our cases were histologically, immunohistochemically and ultrastructurally similar to the previously reported cases of spindle and cuboidal renal cell carcinoma. In contrast to all previously reported cases of spindle and cuboidal renal cell carcinoma, we observed an association with nephrolithiasis in three of our cases; moreover, one of our tumours had a conventional renal cell carcinoma component and another revealed a metastatic focus in a regional lymph node. None of our patients died of the disease. This study confirms that spindle and cuboidal renal cell carcinoma has a low malignant potential.     

Clear-cell papillary renal cell carcinoma: 24 cases of a distinct low-grade renal tumour and a comparative genomic hybridization array study of seven cases

Adam J, Couturier J, Molinié V, Vieillefond A & Sibony M
(2011) Histopathology 58, 1064–1071
Clear‐cell papillary renal cell carcinoma: 24 cases of a distinct low‐grade renal tumour and a comparative genomic hybridization array study of seven cases Aims: To report clinicopathological and genomic characteristics of (ccpRCC), a rare, recently characterized renal tumour entity. Methods and results: Twenty‐four renal tumours identified as ccpRCC were collected. Data from comparative genomic hybridization on microarrays (array‐CGH) were obtained for seven of these. Most tumours (58%) occurred in the absence of renal disease. Mean patient age was 58.1 years. Tumours were small (mean size: 2.4 cm) and classified as pT1. Histological characteristics consisted of tubules and papillae lined by a single layer of small clear cells harbouring low‐grade nuclei (Fuhrman grades 1 or 2). Architectural variations, with compact areas (41% of cases) and a micro‐ or macrocystic pattern (67% of cases) were observed frequently. Immunostaining demonstrated diffuse, strong expression of cytokeratin 7 and vimentin, whereas CD10, racemase, RCC antigen, translocation factor E3, TFE3 and translocation factor EB were consistently negative. In seven tumours, array‐CGH detected no chromosomal imbalances. Conclusions: Clear‐cell papillary renal cell carcinoma (ccpRCC) were differentiated from other renal neoplasms by a specific constellation of histopathological and immunohistochemical features, without characteristic genomic imbalances. Clinical, histopathological and genomic data suggested that these tumours have a low potential for malignancy.     

Spindle cell carcinoma of the breast: A case report and an immunohistochemical study including p53 and Ki-67 expression

A rare case of spindle cell carcinoma (SpCC) of the breast occurring In a 51-yearold Japanese woman Is reported. A firm and well-circumscribed tumor, measuring 9times8.5times8.5 cm, was located on the upper lateral region of the right breast. Microscopically, the tumor consisted of sheets of both malignant spindle cells and poorly differentiated ductal carcinoma containing squamold islands with gradual transition to the spindle cell component. The Immunocyto chemical expression of epithelial markers was recognized in the spindle cells, as well as in the carcinomatous cells. Moreover, the spindle cell component expressed vimentin, α-smooth muscle actln and S-100 protein. Ultrastructurally, in addition to the features of adenocarcinoma, squamous or rnyoeptthelial differentiation was confirmed in the spindle cell component. These findings thus suggest an epithelial origin with squamous differentiations and myoepithellal participation In the genesis of SpCC. In a comparative study, the expression of p53 protein and KI-67 as a proliferation marker In each component of this tumor was also Investigated. The mean p53 labeling index (LI) in both the carcinomatous and spindle cell area was similar, however the mean MIB-1 LI in the spindle cell area was significantly higher than that in the carcinomatous area. The results indicate that p53 over-expression is Involved In the tumorigenesis of both components in the SpCC, and the spindle cell component shows a higher degree of proliferative activity than the carcinomatous component.     

Multilocular cystic renal cell carcinoma: a clinicopathological, immuno- and lectin histochemical study of nine cases

Multilocular cystic renal cell carcinoma (MCRCC) is an uncommon variant of renal neoplasm and its histogenesis is unclear. The aim of this study was to use immuno- and lectin histochemistry to delineate histochemical patterns which might indicate the histogenetic origin of MCRCC from a particular part or parts of the nephron. We present our experience with nine cases of MCRCC. Fifteen cases of renal cell carcinoma with cystic degeneration (RCC-CD) were selected for comparison with MCRCC. We carried out clinicopathological and immunohistochemical examinations of the MCRCC cases. Clinically, the prognosis of the patients was quite good, in that all nine patients are alive and without recurrence at the time of this report. The MCRCCs reacted strongly in a higher proportion of cases with the distal nephron markers, such as peanut agglutinin (PNA, 88.9%) and MUC1-core antibody (MUC1, 100%), but none reacted preferentially with proximal nephron markers such as vimentin, Leu M1 and Lotus tetragonolobus (LTA). The RCC-CD tumours reacted with vimentin (40%), Leu M1 (66.7%) and LTA (86.7%). Except for two cases, the RCC-CD tumours did not react with PNA or MUC1 core antibody. These results illustrate the different patterns of expression of MCRCC and RCC-CD and suggest that MCRCC originates from the distal nephron. Therefore, MCRCC should be differentiated from other types of renal cell carcinoma on the basis of the histogenesis of the tumour and the clinicopathological findings.     

Metastatic medullary thyroid carcinoma to the breast in a patient with combined medullary and papillary carcinoma of thyroid—A case report

We report the fine‐needle aspiration cytology of a case of medullary thyroid carcinoma (MTC) metastatic to the breast in a 66‐year old female within two years of diagnosis of the thyroid tumor. The aspirate of the breast metastases revealed a plasmacytoid population of cells in loose clusters and singly with mild to moderate pleomorphism. Nuclear groves and occasional intranuclear cytoplasmic inclusions were seen. The cells stained positive for calcitonin and negative for thyroglobulin. Use of immunocytochemical methods proved useful to diagnose metastasis which was essential in planning treatment. Cases of metastatic MTC to the breast diagnosed on fine‐needle aspirates reported in the literature are reviewed. Diagn. Cytopathol. 2015;43:343–348. © 2014 Wiley Periodicals, Inc.     

Analysis of the expression of HLA class I, proinflammatory cytokines and chemokines in primary tumors from patients with localized and metastatic renal cell carcinoma

Changes in the human leukocyte antigen (HLA) class I expression and cytokine and chemokine production both by cancer cells and by normal surrounding tissue are believed to be responsible for immune escape and tumor progression. In this study, we compared the tumor expression levels of HLA heavy chain (HLAhc), beta-2-microglobulin (beta2m), chemokines (Interferon-gamma-inducible Protein-10 (IP-10), Interferon-inducible T-cell Alpha-Chemoattractant (I-TAC), Stromal cell-Derived Factor-1 (SDF-1), Macrophage Inflammatory Protein-1-alpha (MIP-1-alpha) and Regulated upon Activation, Normally T-Expressed, and presumably Secreted (RANTES)) and cytokines (Vascular Endothelial Growth Factor (VEGF), Interferon-gamma (IFN-gamma), Interleukin-10 (IL-10), Tumor Growth Factor-beta (TGB-beta)) in primary tumors and adjacent normal tissues from patients with localized and metastatic renal cell carcinoma (RCC) using a quantitative real-time polymerase chain reaction technique. We report that the expression of HLAhc, beta2m and the studied cytokines and chemokines (except for SDF-1) was significantly higher in the tumor (29 samples) than in the normal tissue (14 samples). When we compared the tumor expression levels between patients with localized RCC and patients with advanced metastatic stage, we found that the messenger RNA expression levels of HLAhc and beta2m were much lower in patients with metastatic RCC (6 cases) than in patients with localized cancer (23 cases), with levels similar to those in normal tissue. This was also confirmed on a protein level by immunohistological labeling of tumor tissues. Thirty-nine percent of the analyzed RCC tumors showed partial loss of HLA class I molecules, while 6% of the tumors showed HLA class I total loss. The expression of IP-10, SDF-1 and VEGF-c was also significantly lower in patients with advanced tumor, while the IFN-gamma expression in metastatic RCC was not detectable. Our findings show that primary RCC tumors are characterized by a high expression of HLAhc and a presence of proinflammatory mediators and chemokines. We also observed that disease progression and development of metastasis in RCC are associated with decreased expression of HLAhc, beta2m, IP-10, SDF-1 and IFN-gamma. This microenvironment may suppress the cytotoxic response, creating conditions that favor tumor escape and cancer progression.     

Composite renal cell carcinoma and angiomyolipoma: a study of the histogenetic relationship of the two lesions

The purpose of the present study was to investigate the possible histogenetic relationship of renal cell carcinoma (RCC) and angiomyolipoma (AMYL) occurring in the same renal nodule by examining two cases of composite RCC and AMYL in patients without stigmata of tuberous sclerosis and by reviewing the medical literature of similar cases. Case 1 represents an epithelioid variant of AMYL with multiple additional nodules of typical AMYL in a surgically removed kidney. The patient subsequently developed a lesion consisting of a mixture of epithelioid variant of AMYL and RCC 24 months later in the retroperitoneum and, an additional 4 months later, in the liver. The RCC cells resembled mononucleated epithelioid cells of the epithelioid AMYL except that they were focally reactive with epithelial membrane antigen (EMA) in the retroperitoneum and focally reactive with both EMA and cytokeratin (CK) in the liver. Case 2 consisted of a typical AMYL admixed with a chromophil cell RCC. A review of the medical literature revealed seven additional cases with histopathological findings similar to this case. All cases had multiple foci of typical AMYL. Immunostaining results are available in five tumors. Chromophil RCC showed variable reactivity with CK and EMA. In addition, RCC in the two cases in the present study also displayed a positive reaction with mucin staining and a positive reactivity with carcinoembryonic antigen. There appears to be a spectrum of histopathological and immunohistochemical changes from the epithelioid variant of AMYL through a mixed epithelioid AMYL/RCC to chromophil RCC in three successive specimens in case 1. Moreover, the intimate admixture of AMYL and RCC and the similar expression of epithelial markers of RCC in the two cases in the present study, as well as other cases in the literature, suggest that some RCC develop from the same precursor cell as AMYL or from a component of AMYL.     

Chromophobe renal cell carcinoma: a comparative study of histological, immunohistochemical and ultrastructural features using high throughput tissue microarray

AIMS: In some cases distinction between chromophobe renal cell carcinoma (CRCC), oncocytoma and clear cell (conventional) renal cell carcinoma (eosinophilic variant) using routine light microscopy remains problematic. The present study investigates the level of agreement in the diagnosis of CRCC, as well as the histological features most frequently used for this diagnosis by two pathologists with a special interest in renal neoplasia. The sensitivity and specificity of immunohistochemical markers in cases with overlapping histological features in the diagnosis of CRCC were also studied. Electron microscopy was performed, as a diagnostic gold standard, on all of the cases. METHODS AND RESULTS: Thirty-two renal tumours with predominantly eosinophilic cytoplasm were reviewed in a blinded fashion by two pathologists. The diagnosis and morphological features used to render each diagnosis were tabulated. Validation of the utility of keratin 7 and 20, epithelial membrane antigen (EMA), vimentin, CD10, parvalbumin, RCC antigen, antimitochondrial antibody and Hale's colloidal iron was performed by the construction of a tissue microarray (TMA) master block. Based on histological criteria alone, overall agreement on the diagnosis of these tumours was reached in 69% of the cases, while there was total disagreement in 12%. In 59% of the cases, total agreement was reached in classifying the case as a CRCC based on histology alone. Kappa statistics for interobserver variability were calculated as only slight agreement (kappa = 0.3). The histological features most frequently associated with a diagnosis of CRCC were accentuated cell borders (87%) and a combination of hyperchromatic wrinkled nuclei (79%) and perinuclear halos (74%). The most sensitive and specific marker for CRCC was parvalbumin (sensitivity 0.91; specificity 1.0). The immunohistochemical profile of EMA+/ vimentin- was useful but had low specificity (sensitivity 0.75; specificity 0.4). CD10 had the highest sensitivity (1.0) but worst specificity (0.25) for CRCC. Keratin 7 had high sensitivity (0.83) but fairly low specificity (0.37) for CRCC. Hale's colloidal iron and the RCC antigen marker were not contributory. Finally, the antimitochondrial antibody was found to be fairly sensitive (0.83) for excluding CRCC. CONCLUSIONS: A small but significant proportion of renal tumours with cells having eosinophilic cytoplasm cannot be classified, even by experienced pathologists, based on histology alone. In these cases it is imperative to use markers with known sensitivity and specificity for the diagnosis of CRCC.     

Oncocytic papillary renal cell carcinoma: a clinicopathological study emphasizing distinct morphology,extended immunohistochemical profile and cytogenetic features

Papillary renal cell carcinoma (PRCC) is traditionally classified into type 1 and type 2. Recently, an oncocytic variant of PRCC has been described. We report a series of 6 oncocytic renal papillary tumors (OPRCC) which tended to occur in older patients (mean, 56.8 years) with a male preference (male-to-female ratio is 5:1). All 6 patients are alive with no evidence of disease after initial resection, showing an indolent clinical behavior. Histologically, tumors exhibited predominant papillary structure with delicate fibrovascular cores. Papillae were lined by single layers of cells with large, deeply eosinophilic and finely granular cytoplasms and round regular nucleus. The phagocytosis of tumor cells was frequently and evidently seen in our cases that hemosiderin-laden tumor cells and foamy tumor cells were noticed in five and four cases respectively. All tumors were immunoreactive for racemase, vimentin, CD10, and MET and negative for CD117. While E-cadherin, EMA, and cytokeratin 7 exhibited variable immunopositivity. FISH analysis was performed in five of six cases and found heterogeneous results. Trisomy of chromosomes 7 was found in three cases and trisomy of chromosomes 17 in two cases. Loss of chromosome Y was noted in one of four tumors in male patients. MET gene status was also investigated by direct sequencing in all 6 cases and found no distinct mutation in any case. These results suggest that OPRCC shows distinct morphology, indolent clinical behavior, and similar immunohistochemical and cytogenetic features with PRCC, seems to be a variant in the PRCC group. Whether the strong expression of MET indicates a potential therapeutic target is still unknown and requires further investigation in clinical trials.     

Prognostic role of CD44 cell adhesion molecule expression in primary and metastatic renal cell carcinoma: a clinicopathologic study of 125 cases

Possible prognostic utility of CD44 in renal cell carcinoma (RCC) prompted a comparison of its expression in primary and metastatic RCC. A total of 164 paraffin-embedded tissues of primary RCC and metastatic RCCs from 125 patients were immunostained with CD44 (standard form) antibody. It consisted of 86 primary RCCs (50 with subsequent metastasis [MET+] and 36 with no known metastasis [MET−]) during follow up and 78 metastatic RCCs (39 metastatic RCCs only and 39 with matched RCC primary from RCC MET + category). Immunoreactivity for CD44 was scored semiquantitatively as 0, 1, or 2 (0, <5%; 1, 5–50%; 2, ≥50%). Expression of CD44 was significantly higher in metastatic RCCs compared to primary RCCs (p = 0.036). CD44 immunoreactivity in the primary RCC (MET− and MET+) correlated with progression-free survival (p = 0.027). In metastatic RCCs, CD44 immunoreactivity also correlated with survival after detection of first metastasis (p = 0.011). In multivariate analysis, stage (p = 0.0001) and CD44 immunoreactivity (p = 0.03) in primary RCC were independent predictors of progression-free survival. Our study suggests that CD44 status in RCC provides useful prognostic information both in primary and metastatic RCCs and may have applicability in stratifying patients for therapeutic decisions.     

Histopathological study of the spreading neoplastic cells in cervical glands and surface epithelia in cervical intra-epithelial neoplasia and microinvasive squamous cell carcinoma: Ki-67 immunostaining is a useful marker for pathological diagnosis from the gland involvement site

The purpose of the present study was to clarify the spreading status of neoplastic cells in the cervical glands and surface epithelia in cervical intra-epithelial neoplasia (CIN) and microinvasive squamous cell carcinoma (MiSCC), and to evaluate the diagnostic usefulness of Ki-67 immunostaining from the gland involvement (GI) site. Cervical conization samples from 120 patients, including 110 with CIN (CIN1, n=2; CIN2, n=21; CIN3, n=87) and 10 patients with MiSCC, was examined using HE and Ki-67 immunostaining. The linear extent, lateral extent in the surface epithelia and depth of GI were significantly increased from CIN1 to MiSCC. A significant correlation was found between the linear extent and lateral extent, between the linear extent and depth, and between the lateral extent and depth. These results indicated that the size of the surface epithelial lesion and the depth in CIN gradually increased in accordance with the grade of CIN, and that GI became deeper according to the increase in the size of the surface epithelial lesion. The Ki-67 labeling index in the GI site gradually increased from CIN1 to MiSCC, which indicated that Ki-67 immunostaining is a useful marker for the pathological diagnosis of CIN from the GI site.     

Unclassified renal cell carcinoma: a clinicopathological,comparative genomic hybridization,and whole-genome exon sequencing study

Unclassified renal cell carcinoma (URCC) is a rare variant of RCC, accounting for only 3-5% of all cases. Studies on the molecular genetics of URCC are limited, and hence, we report on 2 cases of URCC analyzed using comparative genome hybridization (CGH) and the genome-wide human exon GeneChip technique to identify the genomic alterations of URCC. Both URCC patients (mean age, 72 years) presented at an advanced stage and died within 30 months post-surgery. Histologically, the URCCs were composed of undifferentiated, multinucleated, giant cells with eosinophilic cytoplasm. Immunostaining revealed that both URCC cases had strong p53 protein expression and partial expression of cluster of differentiation-10 and cytokeratin. The CGH profiles showed chromosomal imbalances in both URCC cases: gains were observed in chromosomes 1p11-12, 1q12-13, 2q20-23, 3q22-23, 8p12, and 16q11-15, whereas losses were detected on chromosomes 1q22-23, 3p12-22, 5p30-ter, 6p, 11q, 16q18-22, 17p12-14, and 20p. Compared with 18 normal renal tissues, 40 mutated genes were detected in the URCC tissues, including 32 missense and 8 silent mutations. Functional enrichment analysis revealed that the missense mutation genes were involved in 11 different biological processes and pathways, including cell cycle regulation, lipid localization and transport, neuropeptide signaling, organic ether metabolism, and ATP-binding cassette transporter signaling. Our findings indicate that URCC may be a highly aggressive cancer, and the genetic alterations identified herein may provide clues regarding the tumorigenesis of URCC and serve as a basis for the development of targeted therapies against URCC in the future.