Translocation renal cell carcinomas: An evolving entity.

2012 ◽  
Vol 30 (5_suppl) ◽  
pp. 472-472
Author(s):  
Richard Martin Bambury ◽  
Claire Brady ◽  
Aoife McCarthy ◽  
Stewart Fleming ◽  
Nicholas J. Mayer ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Transcription Factor ◽  
Cell Carcinoma ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Renal Mass ◽  
Renal Cell Carcinomas ◽  
Fuhrman Grade ◽  
Post Surgery ◽  
Disease Free

472 Background: Translocation renal cell carcinomas (RCCs) are a novel, rare and distinct clinicopathological entity. The term refers to RCCs with overexpression of transcription factor E3 (TFE3) due to translocation involving the Xp11 locus or less commonly with overexpression of transcription factor EB (TFEB) due to a t(6:11) translocation. In children it is estimated that these tumours account for 40% of RCCs but in adults this proportion is estimated to be 1-4%. As these neoplasms are only recently recognised, outcome data are premature. We report 2 cases of translocation RCC in an Irish regional cancer centre and describe clinicopathological characteristics and early outcome. Methods: In our recent practice, 2 renal cell carcinomas were suspected to be translocation tumours based on morphology and immunohistochemical features (RCC+/CK7-/EMA-). Using immunohistochemistry we tested for expression of TFE3 and TFEB. Results: Both tumours were translocation RCCs. The first case was a 74 year old lady who presented with right upper quadrant pain and had a 9cm right renal mass with no metastatic disease on CT imaging. Radical nephrectomy was performed and histology revealed a pT3aN2, Fuhrman grade 4 renal cell carcinoma with papillary architecture and eosinophillic hyaline nodules within many of the papillae. Staining for TFE3 showed focal nuclear positivity consistent with an Xp11 translocation RCC. She remains disease free 6 months post surgery. The second case was a 46 year old man with an incidental finding of a right renal mass on ultrasound abdomen performed after a new diagnosis of haemochromatosis. Staging CT imaging revealed no metastatic disease and he underwent laparoscopic nephrectomy. Histology revealed a pT1aNx, Fuhrman grade 3 renal cell carcinoma with predominantly alveolar architecture and focal papillary and microcystic areas. Staining for TFEB was positive consistent with a t6:11 translocation RCC. He remains disease free 5 months post surgery. Conclusions: We report 2 new cases of this rare subset of RCC. The therapeutic implications for patients with these mutations are as yet unclear. We plan to update with ongoing follow-up and identification of new cases to determine the clinical behaviour of these rare cancers in the Irish setting. 

Translocation renal cell carcinomas: An evolving entity.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e15078-e15078
Author(s):  
Derek Gerard Power ◽  
Jodie E Battley ◽  
Aoife McCarthy ◽  
Claire Brady ◽  
John P. Sweeney ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Renal Mass ◽  
Lung Metastases ◽  
Incidental Finding ◽  
Renal Cell Carcinomas ◽  
Fuhrman Grade ◽  
Post Surgery ◽  
First Case

e15078 Background: Translocation renal cell carcinomas (tRCCs) are a novel, rare and distinct clinicopathological entity. The term refers to RCCs with overexpression of transcription factor E3 (TFE3) due to translocation involving the Xp11 locus or less commonly with overexpression of transcription factor EB (TFEB) due to a t(6:11) translocation. In children it is estimated that these tumours account for 40% of RCCs but in adults this proportion is estimated to be 1-4%. These neoplasms are only recently recognised and outcome data are premature. We report 2 cases of tRCC in an Irish regional cancer centre and describe clinicopathological characteristics and early outcome. Methods: : Approximately 70 new cases of RCC are referred to our centre annually. Recently, 2 renal cell carcinomas were suspected to be tRCCs on morphology and immunohistochemical(IHC) features (RCC+/CK7-/EMA-). Using IHC we tested for expression of TFE3 and TFEB. Results: : Both tumours were tRCCs. The first case was a 74 year old lady who presented with right upper quadrant pain and had a 9cm right renal mass with no metastatic disease on CT imaging. Radical nephrectomy was performed and histology revealed a pT3aN2, Fuhrman grade 4 RCC with mixed clear cell and papillary architecture. IHC for TFE3 showed focal nuclear positivity consistent with an Xp11 translocation RCC. She relapsed 9 months later with local recurrence, retroperitoneal adenopathy and lung metastases. She commenced sunitinib and response assessment is pending. The 2nd case was a 46 year old man with an incidental finding of a right renal mass on ultrasound abdomen. Staging CT revealed no metastatic disease and he underwent laparoscopic nephrectomy. Histology revealed a pT1aNx, Fuhrman grade 3 renal cell carcinoma with predominantly alveolar architecture and focal papillary and microcystic areas. IHC for TFEB was positive consistent with a t6:11 translocation RCC. He remains disease free 9 months post surgery. Conclusions: We report 2 new cases of this rare subset of RCC. The therapeutic implications for patients with these mutations are as yet unclear. We plan to update with ongoing follow-up and will also report 3 further cases suspected to be tRCCs based on morphology and IHC. Confirmatory TFE3/TFEB IHC is awaited.

Treating the Two Extremes in Renal Cell Carcinoma: Management of Small Renal Masses and Cytoreductive Nephrectomy in Metastatic Disease

2014 ◽  
pp. e214-e221 ◽  
Author(s):  
Dae Y. Kim ◽  
Christopher G. Wood ◽  
Jose A. Karam
Keyword(s):  
Renal Cell Carcinoma ◽  
Targeted Therapy ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Renal Mass ◽  
Cytoreductive Nephrectomy ◽  
Renal Cell Carcinomas ◽  
Small Renal Masses ◽  
Renal Masses ◽  
Renal Mass Biopsy

OVERVIEW: The incidental renal mass represents a heterogeneous group that contains both benign and malignant pathologies. The majority of renal cell carcinomas are discovered incidentally, without the presence of symptoms directly related to the mass, and are closely associated with the term small renal masses because of the discovery before the onset of symptoms. In general, small renal masses are defined as 4 cm or smaller, and may account for greater than half of renal cell carcinoma diagnosis. The use of renal mass biopsy may offer additional pathological information but the clinician must be reminded of the technical and diagnostic limitations of renal mass biopsy. Patient-dependent factors, such as life expectancy and comorbidities, guide the management of small renal masses, which include active surveillance, partial nephrectomy, radical nephrectomy, and ablative techniques (cryoablation and radiofrequency ablation). Partial nephrectomy has demonstrated durable oncologic control for small renal masses while preserving renal function and, if feasible, is the current treatment of choice. In the other extreme of the renal cell carcinomas spectrum and in the presence of metastatic disease, the removal of the renal primary tumor is termed cytoreductive nephrectomy. Two randomized trials (SWOG 8949 and EORTC 30947) have demonstrated a survival benefit with cytoreductive nephrectomy before the initiation of immunotherapy. These two studies have also been the motivation to perform cytoreductive nephrectomy in the targeted therapy era. Currently, there are two ongoing randomized prospective trials accruing to investigate the timing and relevance of cytoreductive nephrectomy in the contemporary setting of targeted therapy.

scholarly journals Clear Cell Papillary Renal Cell Carcinoma: A Potential Mimic of Conventional Clear Cell Renal Carcinoma on Core Biopsy

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Heath Liddell ◽  
Anton Mare ◽  
Sean Heywood ◽  
Genevieve Bennett ◽  
Hin Fan Chan
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Core Biopsy ◽  
Clear Cell ◽  
Incidental Finding ◽  
Papillary Renal Cell Carcinoma ◽  
Renal Cell Carcinomas ◽  
Fuhrman Grade ◽  
Stage Renal Disease

Clear cell papillary renal cell carcinoma (CCP-RCC) is a recently described, relatively uncommon variant of renal cell carcinoma (RCC) with a reported incidence of 4.1%. Thought to only arise in those with end stage renal disease, CCP-RCC is increasingly identified in those without renal impairment. CCP-RCCs have unique morphologic, genetic, and immunohistochemical features distinguishing them from both conventional clear cell renal cell carcinomas and papillary renal cell carcinomas. Immunohistochemically, these tumors are positive for CK7 and negative for CD10 and racemase. This is in contrast to conventional cell renal cell carcinomas (CK7 negative, CD10 positive) and papillary cell carcinomas (CK7, CD10, and racemase positive). These tumours appear to be indolent in nature, with no current documented cases of metastatic spread. We present the case of a 42-year-old female who presented with an incidental finding of a renal mass that on a core biopsy was reported as clear cell carcinoma, Fuhrman grade 1. She subsequently underwent a radical nephrectomy and further histological examination revealed the tumor to be a clear cell papillary renal cell carcinoma, Fuhrman grade 1.

Neoadjuvant temsirolimus in high-risk renal cell carcinoma: Results from a single-center prospective study.

2011 ◽  
Vol 29 (7_suppl) ◽  
pp. 387-387
Author(s):  
A. A. Sheikh ◽  
A. Gharajeh ◽  
S. J. Hotte ◽  
J. H. Pinthus ◽  
A. Kapoor
Keyword(s):  
Renal Cell Carcinoma ◽  
High Risk ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Radical Nephrectomy ◽  
Renal Mass ◽  
Locally Advanced ◽  
Neoadjuvant Treatment ◽  
Post Surgery

387 Background: The current first-line treatment for advanced renal cell carcinoma (RCC) includes targeted therapy with or without cytoreductive radical nephrectomy. There is a paucity of data as to the effectiveness of adjuvant and neoadjuvant treatment before radical nephrectomy for localized high-risk or advanced disease. We initiated a trial of neoadjuvant Temsirolimus before radical nephrectomy for locally advanced and metastatic RCC examining tumor response and survival. Methods: Patients who presented with advanced RCC were offered enrolment into a prospective, single-centre, ethics approved trial with 12 weeks of temsirolimus before radical nephrectomy. Biopsy tissue was obtained at enrollment and at time of cytoreductive nephrectomy for diagnosis. Patients were administered 25 mg in temsirolimus on a weekly basis for 12 weeks, and then underwent radical nephrectomy. Computed tomography scans and biomarkers were obtained on enrolment, 6 weeks and 12 weeks (before nephrectomy). Ongoing outcome and survival data were analyzed. Results: Eight patients were enrolled into the trial. Patient #1 (10-cm renal mass with bulky adenopathy T2N2M0) had no evidence of disease (NED) at 6 months post-nephrectomy. Patient #2 (9-cm renal mass, bulky adenopathy, pulmonary metastases T2N2M1) also had NED at 6 months postnephrectomy. Patients #3 and #4 experienced regression of the primary mass and have recently undergone uneventful surgery with follow-up pending. Patients #5 and #6 expired prior to the full course of therapy, but had diagnoses other than RCC. Patient #7 experienced disease progression, however, this patient's nephrectomy was delayed by 3 months due to an unrelated myocardial infarct. Patient #8 experienced adverse events. Conclusions: Our findings suggest that neoadjuvant temsirolimus before radical nephrectomy for advanced RCC may improve disease regression post-surgery, and may lead to disease resolution in patients with low-volume disease. Randomized studies with longer term follow-up is necessary to assess overall progression-free survival and overall survival. [Table: see text]

Identification and validation of an 8-gene expression signature for predicting high-Fuhrman grade renal cell carcinoma.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 526-526
Author(s):  
Fangning Wan ◽  
Yao Zhu ◽  
Chengtao Han ◽  
Qinghua Xu ◽  
Bo Dai ◽  
...  
Keyword(s):  
Gene Expression ◽  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Renal Mass ◽  
Gene Expression Signature ◽  
High Grade ◽  
Fuhrman Grade ◽  
Expression Signature ◽  
Biopsy Specimens

526 Background: Clear cell renal cell carcinoma (ccRCC) is a malignancy with heterogeneous outcomes. Currently, renal mass biopsies are commonly employed to extract disease characteristics and aid prognosis. Although the pathological diagnosis of malignant disease is accurate in contemporary reports, the classification of Fuhrman grade using biopsy specimens is still far from promising. Our aim is to generate a signature biomarker to distinguish high grade ccRCC that could be readily applied to clinical biopsy samples. Methods: Using the Cancer Genome Atlas (TCGA) database, a gene expression signature was developed to distinguish high-grade (G3/4) from low-grade (G1/2) disease. The expression profile was further validated for performance and clinical usage in 283 frozen renal cancer samples and 127 ex-vivo renal mass biopsy samples, respectively. The area under curve (AUC) was used to quantify discriminative ability and was compared using the De-long test. Results: Using the development dataset, we identified a 24-gene signature for high-grade disease with an AUC of 0.884. After applied to the replication dataset, an eight-gene profile was defined and achieved an AUC of 0.823. The accuracy of 8-gene panel was maintained in the RMB samples (AUC = 0.821). Conclusions: Using a two-stage replication design, we validated an eight-gene expression signature for predicting high Fuhrman grade of ccRCC. This tool may help to reveal the characteristics of ccRCC biopsy specimens.

scholarly journals Predictive factors for disease recurrence in patients with locally advanced renal cell carcinoma treated with curative surgery

2020 ◽  
Author(s):  
Te-Wei Chang ◽  
Wei-Ming Cheng ◽  
Yu-Hua Fan ◽  
Chih-Chieh Lin ◽  
Tzu-Ping Lin ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Predictive Factors ◽  
Renal Cell ◽  
Locally Advanced ◽  
Disease Recurrence ◽  
Advanced Renal Cell Carcinoma ◽  
Curative Surgery ◽  
Fuhrman Grade ◽  
Disease Free

Abstract Background Few prognostic factors have been proposed for patients with locally advanced renal cell carcinoma (RCC). This study aimed to investigate the possible predictive factors for disease-free survival (DFS) after curative surgery for RCC stage T3 or higher. Methods Patients with locally advanced RCC who underwent cure-intended partial or radical nephrectomy, with or without tumor thrombectomy, at our institution from April 1 st , 2005 to October 31 st , 2013 were retrospectively reviewed. Those undergoing cytoreductive nephrectomy were excluded. Preoperative data, including surgical and pathologic characteristics, were assessed for correlation with DFS. Chi-squared tests, multivariate Cox regression analysis, and Kaplan-Meier survival curve analyses were performed to determine potential predictive factors. A P-value less than 0.05 was considered statistically significant. Results A total of 159 patients were included for analysis. One hundred and nineteen (74.8%) patients remained disease-free during follow-up. Disease recurrence was found in 40 (25.2%) patients, and pathological T stage, capsule penetration, Fuhrman grade, thrombocytosis, and elevated serum alkaline phosphatase and γ-glutamyl transpeptidase levels were significantly associated with disease recurrence on univariate analysis. On multivariate analysis, capsule penetration (hazard ratio [HR] = 2.25, p = 0.038, 95% confidence interval [CI] = 1.05–4.85) and Fuhrman grade 3 or 4 (HR = 8.06, p = 0.003, 95% CI = 2.59–25.02) showed significant associations with DFS. Conclusions In patients with locally advanced RCC, capsule penetration and Fuhrman grade were associated with worse DFS after curative surgery. Urologists should closely monitor patients with capsule penetration and high Fuhrman grades, and adjuvant systemic treatments, other than targeted agents, should be considered.

Partial nephrectomy in the setting of metastatic renal cell carcinoma.

2013 ◽  
Vol 31 (6_suppl) ◽  
pp. 440-440
Author(s):  
Kara Babaian ◽  
Surena F. Matin ◽  
Pheroze Tamboli ◽  
Nizar M. Tannir ◽  
Eric Jonasch ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Partial Nephrectomy ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Renal Mass ◽  
Cytoreductive Nephrectomy ◽  
Cancer Specific Survival ◽  
Renal Masses

440 Background: Up to one-third of patients with renal cell carcinoma present with metastatic disease (mRCC). Cytoreductive nephrectomy remains the standard of care for appropriately selected patients. However, cytoreductive nephrectomy is not always practical. We sought to identify the indications and outcomes for partial nephrectomy (PN) in our cohort of patients with mRCC, with particular attention to different PN subgroups. Methods: Using our institutional database, 30 patients with mRCC who underwent PN between 1996 and 2011 were identified. Demographic, clinical, and pathologic variables were collected. Non-parametric statistics and log-rank tests were used. Cancer specific survival (CSS) was estimated using Kaplan-Meier method according to presentation, tumor size, and presence of metastatic disease, from the time of PN to last follow-up or death. Results: The median age at PN was 57 years (range 32-84). 8 patients presented with bilateral synchronous renal masses; 17 presented with a metachronous contralateral renal mass; and 5 presented with a unilateral renal mass (including 3 in a solitary kidney). Median follow-up after PN was 32 months (range 1-184). Overall, 23 patients (77%) died of disease at a median of 27 months (range 7-86) after PN. Patients who underwent PN for a metachronous contralateral renal mass had a median CSS of 61 months compared to those with bilateral synchronous or unilateral renal masses (CSS 26.5 months, HR 2.98, p =.012 and CSS 31, HR 2.12, p =.069, respectively). Patients who underwent PN for a renal mass ≤4cm and >4cm had a median CSS of 42 and 26.5 months, respectively (HR 2.49, p =.037). Median CSS for patients with and without metastatic disease at original diagnosis was 27 and 61 months, respectively (HR 2.85, p =.013). In this study, patients who became M0 after metastasectomy did not have improved CSS compared to patients who did not (42 and 32 months, p =0.152). Conclusions: Our findings suggest that the burden of disease at initial diagnosis, timing of presentation of the PN index lesion, and the size of the renal mass at PN play an important role in survival. These factors should be taken into consideration when determining which patients would benefit from PN in the setting of mRCC.

scholarly journals MP22-15 RENAL MASS SIZE AND SYNCHRONOUS METASTATIC DISEASE IN RENAL CELL CARCINOMA: AN ANALYSIS OF THE NATIONAL CANCER DATABASE

2017 ◽  
Vol 197 (4S) ◽  
Author(s):  
Mary E. Westerman ◽  
Vidit Sharma ◽  
Bimal Bhindi ◽  
Stephen A. Boorjian ◽  
R. Houston Thompson ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Renal Mass ◽  
National Cancer Database ◽  
Mass Size

An Atypical Case of Renal Mass - A Case Study

2020 ◽  
Vol 15 (2) ◽  
pp. 56-58
Author(s):  
Shafiqur Rahman ◽  
B Ahmed ◽  
ATM Mowladad Chowdhury ◽  
Mirza M Hasan ◽  
Sayedul Islam
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Clinical Diagnosis ◽  
Renal Cell ◽  
Renal Mass ◽  
Clinical Presentation ◽  
Atypical Case ◽  
Renal Tuberculosis

A forty eight year old woman with the clinical diagnosis of renal mass due to renal cell carcinoma was found to have renal tuberculosis. The clinical presentation and management are being discussed. Bangladesh Journal of Urology, Vol. 15, No. 2, July 2012 p.56-58

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