Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities.
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ABSTRACT:
SUBMITTER: Cifuentes-C L
PROVIDER: S-EPMC7025850 | biostudies-literature | 2020 Mar-Apr
REPOSITORIES: biostudies-literature
Publications
Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities.
Cifuentes-C Laura L Martinez Carlos Humberto CH Garcia-Perdomo Herney Andres HA
International braz j urol : official journal of the Brazilian Society of Urology 20200301 2
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Project description:Clear cell renal cell carcinoma and papillary renal cell carcinoma are the most common types of renal tumors. However, coexistence of both tumors in the same kidney is a rare condition. We report a 56-year old male who was found to have ipsilateral synchronous clear cell and papillary renal cell carcinoma in the left kidney. Review of related literature is provided to estimate the prevalence of similar cases.
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Project description:Clear cell papillary renal cell carcinoma (CCPRCC) is a low-grade renal neoplasm with morphological characteristics mimicking both clear cell renal cell carcinoma (CCRCC) and papillary renal cell carcinoma (PRCC). However, despite some overlapping features, their morphological, immunohistochemical, and molecular profiles are distinct. Micro-RNAs (miRNAs) are small noncoding RNAs that play a crucial role in regulating gene expression and are involved in various biological processes, including cancer development. To better understand the biology of this tumor, we aimed to analyze the miRNA expression profile of a set of CCPRCC using microarray and quantitative reverse transcription-polymerase chain reaction. A total of 15 cases diagnosed as CCPRCC were used in this study. Among the most differentially expressed miRNA in CCPRCC, we found miR-210, miR-122, miR-34a, miR-21, miR-34b*, and miR-489 to be up-regulated, whereas miR-4284, miR-1202, miR-135a, miR-1973, and miR-204 were down-regulated compared with normal renal parenchyma. To identify consensus of differentially regulated miRNA between CCPRCC, CCRCC, and PRCC, we additionally determined differential miRNA expression using 2 publically available microarray data sets from the NCBI Gene Expression Omnibus database (GSE41282 and GSE3798). This comparison revealed that the miRNA expression profile of CCPRCC shows some overlapping characteristics between CCRCC and PRCC. Moreover, CCPRCC lacks dysregulation of important miRNAs typically associated with aggressive behavior. In summary, we describe the miRNA expression profile of a relatively infrequent type of renal cancer. Our results may help in understanding the molecular underpinning of this newly recognized entity.
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Project description:Multiple primary malignant neoplasms (MPMNs) are defined as the presence of two or more malignancies with different histologies in the same patient. MPMNs are rare, accounting for fewer than 4% of all tumor cases. Depending on the time interval between the diagnosis of the different malignancies, they are classified as either simultaneous or metachronous MPMNs, with simultaneous being rarer in MPMNs. Here, we present a 63-year-old female patient presenting with multiple primary renal and thyroid carcinomas and discuss the risk factors, treatment options, and prognosis of rare dual carcinomas. We focus on managing multidisciplinary teams and selecting individualized treatment options to deliver valuable treatment strategies to patients.
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Project description:We report the case of a 51-year-old woman who was initially hospitalized in the respiratory department with cough and fever. Urinary computed tomography (CT) showed two different incidental masses in the right kidney. The patient underwent a radical right nephrectomy without lymph node dissection and postoperative adjuvant treatment. The pathological examination of the surgical specimens showed a collision tumor composed of a clear cell renal cell carcinoma (CCRCC) and a clear cell papillary renal cell tumor (CCPRCT). To the best of our knowledge, this is the first such case reported to date. No recurrence of local or distant metastasis was found during routine follow-up 14 months after the operation.
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Project description:BackgroundClear cell renal cell carcinoma (ccRCC) is a particularly challenging tumor type because of its extensive phenotypic variability as well as intra-tumoral heterogeneity (ITH). Clinically, this complexity has been reduced to a handful of pathological variables such as stage, grade and necrosis, but these variables fail to capture the breadth of the disease. How different phenotypes affect patient prognosis and influence therapeutic response is poorly understood. Extensive ITH illustrates remarkable plasticity, providing a framework to study tumor evolution. While multiregional genomic analyses have shown evolution from an ancient clone that acquires metastatic competency over time, these studies have been conducted agnostic to morphological cues and phenotypic plasticity.MethodsWe established a systematic ontology of ccRCC phenotypic variability by developing a multi-scale framework along three fundamental axes: tumor architecture, cytology and the microenvironment. We defined 33 parameters, which we comprehensively evaluated in 549 consecutive ccRCCs retrospectively. We systematically evaluated the impact of each parameter on patient outcomes, and assessed their contribution through multivariate analyses. We measured therapeutic impact in the context of anti-angiogenic therapies. We applied dimensionality reduction by t-distributed stochastic neighbor embedding (t-SNE) algorithms to tumor architectures for the study of tumor evolution superimposing tumor size and grade vectors. Evolutionary models were refined through empirical analyses of directed evolution of tumor intravascular extensions, and metastatic competency (as determined by tumor reconstitution in a heterologous host).FindingsWe discovered several novel ccRCC phenotypes, developed an integrated taxonomy, and identified features that improve current prognostic models. We identified a subset of ccRCCs refractory to anti-angiogenic therapies. We developed a model of tumor evolution, which revealed converging evolutionary trajectories into an aggressive type.InterpretationThis work serves as a paradigm for deconvoluting tumor complexity and illustrates how morphological analyses can improve our understanding of ccRCC pleiotropy. We identified several subtypes associated with aggressive biology, and differential response to targeted therapies. By analyzing patterns of spatial and temporal co-occurrence, intravascular tumor extensions and metastatic competency, we were able to identify distinct trajectories of convergent phenotypic evolution.
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Project description:Concurrence of renal cell carcinoma (RCC) and urothelial carcinoma (UC) in the same kidney is a rare phenomenon. It is critical to define this unusual disease to avoid a delay in diagnosis and improve the prognosis. The present study describes a case of a 71-year-old patient with synchronous ipsilateral RCC and UC of the renal pelvis and ureter. The patient presented with intermittent attacks of left loin pain with frank hematuria for 3 months and a weight loss of 5 kg over the same period of time. The patient had been a chronic heavy smoker for >45 years. Physical examination revealed stable vital signs; however, a mobile, non-tender mass was palpated in the left upper abdomen. A left nephroureterectomy with the removal of a bladder cuff was performed. Histopathological examination revealed a papillary RCC with a pathological stage of pT1N0Mx and a high-grade UC of the renal pelvis and ureter with a pathological stage of pT3-pN1-pMx. The postoperative recovery was good, and the patient was referred to an oncology center for further management. Previous reports have failed to identify definitive risk factors for the concurrence of RCC and UC. However, 24% of the patients in the various case reports in the literature were smokers. The most common presenting complaints included weight loss and painless hematuria. The concurrence of RCC and UC in the same kidney is a rare entity, and it frequently leads to a worse prognosis than the occurrence of RCC alone. Radical nephroureterectomy is the main line of treatment for patients with upper tract UC.
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Project description:to see if CCPRCC has a distinct miRNA profile from CCRCC and PRCC miRNA v.2.0 chips on two portions of five CCPRCC cases (total 10 samples), three portions of two CCRCC cases and a further three CCRCC cases (total 9 samples), and five type I PRCC samples; a total of 24 samples
2013-10-23 | E-GEOD-51554 | biostudies-arrayexpress
Project description:to see if CCPRCC has a distinct miRNA profile from CCRCC and PRCC
2013-10-23 | GSE51554 | GEO
Project description:Bilateral renal cell carcinomas (RCCs) pose a challenge for clinical treatment and management. Most bilateral RCCs are sporadic, and do not show a hereditary pattern indicative of VHL syndrome or other inherited cancers. The origin and evolution of these sporadic bilateral RCCs remains elusive. We obtained normal and tumor samples from two male patients suffering from early stage synchronous bilateral clear cell RCC (ccRCC), and analyzed genomic DNA using whole exome sequencing and bisulfite pyrosequencing. We detected distinct 3p loss of heterozygosity (LOH) in both tumors in each patient. Two tumors within the same patient harbored distinct driver mutations and different CpG hypermethylation sites in the VHL promoter. Moreover, tumors exhibit independent evolutionary trajectories. Therefore, distinct 3p LOH, combined with contingent driver gene mutations and independent VHL hypermethylation, led to independent tumor origin and parallel evolution of bilateral ccRCC in these two patients. Our results indicate that tumors in these two cases were not due to common germline oncogenic mutations. They were results of multiple de novo mutations in each kidney, rather than primary ccRCC with contralateral renal metastasis. Therefore, histopathologic and genetic profiling from single tumor specimen may underestimate the mutational burden and somatic heterogeneity of bilateral ccRCCs.
| S-EPMC4935960 | biostudies-literature
Project description:To comprehensively compare the survival outcomes of clear cell renal cell carcinoma (ccRCC) and papillary renal cell carcinoma (pRCC), the study cohort included ccRCC and pRCC patients in 2004-2017 from the Surveillance, Epidemiology, and End Results (SEER) database, which comprises 18 registries. Primary outcomes including overall mortality (OM) and cancer-specific mortality (CSM) were evaluated. Subgroup analyses were conducted for different ages, race, and disease stages. A total of 112,270 cases were eligible for the current analysis, including 92,209 cases of ccRCC and 20,061 cases of pRCC. Univariate analyses suggested that pRCC has a more favorable outcome than ccRCC in terms of CSM (HR: 0.72, 95% CI: 0.68-0.75, p < 0.001) and OM (HR: 0.90, 95% CI: 0.88-0.93, p < 0.001). Multivariate-adjusted HRs suggested that pRCC has worse survival outcomes than ccRCC (adjusted HR: 1.08 for CSM and 1.05 for OM, both p < 0.05). Subgroup analyses showed that pRCC had a significantly poorer prognosis than ccRCC among patients ≤45 years old (HRCSM : 1.59, 95% CI: 1.31-1.93, p < 0.001; HROM : 1.63, 95% CI: 1.40-1.90, p < 0.001). Among patients with distant metastasis, those with pRCC had a higher risk of CSM and OM than those with ccRCC (HRCSM : 1.28, 95% CI: 1.19-1.39, p < 0.001; HROM : 1.30, 95% CI: 1.21-1.40, p < 0.001). Propensity score analyses for patients ≤45 years old and those with metastasis showed similar results. The lack of information on pRCC subtypes in the SEER database was a limitation. In conclusion, pRCC has poorer survival outcomes than ccRCC among patients younger than 45 years old and patients with distant metastasis.
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