Journal of Kidney Cancer and VHL最新文献

{"title":"Management Outcomes of Large Renal Angiomyolipoma Presenting with Wunderlich Syndrome-Experience from a Tertiary Center.","authors":"Atanu Kumar Pal, Sidhartha Kalra, Sreerag Kodakkattil Sreenivasan, Lalgudi Narayanan Dorairajan, Ramanitharan Manikandan, Shailendra Kumar Sah","doi":"10.15586/jkcvhl.v10i2.265","DOIUrl":"https://doi.org/10.15586/jkcvhl.v10i2.265","url":null,"abstract":"Renal angiomyolipoma is an uncommon, benign-mixed mesenchymal tumor consisting of thick-walled blood vessels, smooth muscles, and mature adipose tissues. Twenty percent of these tumors are associated with tuberous sclerosis. Wunderlich syndrome (WS), an acute nontraumatic spontaneous perirenal hemorrhage, can be a presentation of large angiomyolipoma. This study evaluated the presentation, management, and complications of renal angiomyolipoma with WS in eight patients who presented to the emergency department between January 2019 and December 2021. The presenting symptoms included flank pain, palpable mass, hematuria, and bleeding in the perinephric space on computerized tomography. Demographic data, symptoms at presentation, comorbidities, hemodynamic parameters, the association with tuberous sclerosis, transfusion requirements, need for angioembolization, surgical management, Clavien–Dindo complication, duration of hospital stay, and 30-day readmission rates were evaluated. The mean age of presentation was 38 years. Of the eight patients, five (62.5%) were females and 3(37.5%) were males. Two (25%) patients had tuberous sclerosis with angiomyolipoma, and three (37.5%) patients presented with hypotension. The mean packed cell transfusion was three units, and the mean tumor size was 7.85 cm (3.5–25 cm). Three of them (37.5%) required emergency angioembolization to prevent exsanguination. Embolization was unsuccessful in one patient (33%) who underwent emergency open partial nephrectomy, and one (33%) patient developed post-embolization syndrome. A total of six patients underwent elective surgery—four underwent partial nephrectomy (laparoscopic - 1, robotic - 1, open - 2) and two underwent open nephrectomy. Three patients encountered Clavien–Dindo complications (Grade 1, n = 2 and IIIA, n = 2). WS is a rare, life-threatening complication in patients with large angiomyolipoma. Judicious optimization, angioembolization, and prompt surgical intervention will help deliver better outcomes.","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"10 2","pages":"21-28"},"PeriodicalIF":1.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9992416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center.","authors":"Tomás Carminatti,&nbsp;Patricio Aitor García Marchiñena,&nbsp;Ignacio Pablo Tobia González,&nbsp;Valeria de Miguel,&nbsp;Marcelo Martín Serra,&nbsp;Pablo Germán Kalfayan,&nbsp;Alberto Manuel Jurado","doi":"10.15586/jkcvhl.v10i3.242","DOIUrl":"https://doi.org/10.15586/jkcvhl.v10i3.242","url":null,"abstract":"<p><p>Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test.</p>","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"10 3","pages":"17-22"},"PeriodicalIF":1.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10404984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9963615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Significance of Serum C-Reactive Protein and Neutrophil-Lymphocyte Ratio in Predicting the Diagnostic Outcomes of Renal Mass Biopsy Procedure.","authors":"Aykut Colakerol,&nbsp;Sergen Sahin,&nbsp;Ramazan Omer Yazar,&nbsp;Mustafa Zafer Temiz,&nbsp;Emrah Yuruk,&nbsp;Engin Kandirali,&nbsp;Atilla Semercioz,&nbsp;Ahmet Yaser Muslumanoglu","doi":"10.15586/jkcvhl.v10i1.259","DOIUrl":"https://doi.org/10.15586/jkcvhl.v10i1.259","url":null,"abstract":"<p><p>This study aimed to investigate the predictive role of serum C-reactive protein (CRP) and neutrophil-to-lymphocyte ratio (NLR) on renal mass biopsy outcomes. A total of 71 patients with suspected kidney masses who underwent renal mass biopsy procedure between January 2017 and January 2021 were retrospectively evaluated. Pathological results after the procedure were obtained and pre-procedural serum CRP and NLR levels were extracted from the patients' data. The patients were grouped into benign and malignant pathology groups according to the histopathology results. The parameters were compared between the groups. Diagnostic role of the parameters in terms of sensitivity, specificity, and positive and negative predictive values was also determined. Additionally, Pearson correlation analysis, and univariate and multivariate cox proportional hazard regression analyses were also performed to investigate the above association with tumor diameter and pathology results, respectively. At the end of the analyses, a total of 60 patients had malignant pathology on histopathological investigations of the mass biopsy specimens, whereas the remaining 11 patients had a benign pathological diagnosis. Significantly higher CRP and NLR levels were detected in the malignant pathology group. The parameters positively correlated with the malignant mass diameter, as well. Serum CRP and NLR determined the malignant masses before the biopsy with sensitivity and specificity of 76.6 and 81.8%, and 88.3 and 45.4%, respectively. Moreover, univariate and multivariate analyses showed that serum CRP level had a significant predictive value for malignant pathology (HR: 0.998, 95% CI: 0.940-0.967, P < 0.001 and HR: 0.951, 95% CI: 0.936-0.966, P < 0.001, respectively). In conclusion, serum CRP and NLR levels were significantly different in patients with malignant pathology after renal mass biopsy compared to the patients with benign pathology. Serum CRP level, in particular, diagnosed malignant pathologies with acceptable sensitivity and specificity values. Additionally, it had a substantial predictive role in determining the malign masses prior the biopsy. Therefore, pre-biopsy serum CRP and NLR levels may be used to predict the diagnostic outcomes of renal mass biopsy in clinical practice. Further studies with larger cohorts can prove our findings in the future.</p>","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"10 1","pages":"9-14"},"PeriodicalIF":1.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9902900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10794605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed Cardiac Metastasis from Renal Cell Carcinoma Caused by <i>VHL</i> Mutation.","authors":"Christopher L Sudduth,&nbsp;Anthony Castagno,&nbsp;Peter Maggs","doi":"10.15586/jkcvhl.v10i1.258","DOIUrl":"https://doi.org/10.15586/jkcvhl.v10i1.258","url":null,"abstract":"<p><p>Cardiac metastasis caused by renal cell carcinoma (RCC) without vena caval involvement is rare. No mutation has been associated with this unique phenotype. A 77-year-old male presented to our clinic with a symptomatic right ventricular mass after nephrectomy for clear cell RCC (ccRCC). The mass was resected, and metastatic disease was confirmed. Targeted exon sequencing identified a <i>VHL</i> mutation (c.494T > G, p.V165G) in the resected specimen. While more than half of ccRCC cases are associated with <i>VHL</i> mutations, this case is the first to show the association between delayed, isolated cardiac metastasis and <i>VHL</i> V165G mutation. The phenotype presented 12 years after nephrectomy and localized to the right ventricular apex. Further genomic characterization of cases with cardiac metastases may provide clues regarding unique mutations noted. Patients exhibiting delayed spread of RCC to the heart must be screened for this mutation.</p>","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"10 1","pages":"15-18"},"PeriodicalIF":1.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9922489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10755237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Synchronized Laparoscopic Bilateral Adrenalectomy for Pheochromocytoma in Multiple Endocrine Neoplasia Syndrome: A Case Report.","authors":"Ali Eslahi,&nbsp;Shahryar Zeighami,&nbsp;Faisal Ahmed,&nbsp;Seyed Hossein Hosseini,&nbsp;Bahareh Ebrahimi,&nbsp;Mohammad Hossein Anbardar","doi":"10.15586/jkcvhl.v9i3.239","DOIUrl":"https://doi.org/10.15586/jkcvhl.v9i3.239","url":null,"abstract":"<p><p>Pheochromocytomas are tumors producing catecholamines that arise from chromaffin cells in the adrenal medulla. They are usually benign in multiple endocrine neoplasia type 2 (MEN2) syndrome, but they tend to present bilaterally in 50-80% of the patients. Few researchers have reported success with simultaneous laparoscopic bilateral adrenalectomy. Hence, we report a 48-year-old woman who presented with a panic attack, headache, and abdominal discomfort that had started 10 years ago. The computed tomography (CT) scan showed a large bilateral cystic lesion in both adrenal glands in favor of pheochromocytomas (30 × 22 mm and 18 × 15 mm on the right side and 40 × 33 mm and 35 × 28 mm on the left side). The patient underwent bilateral laparoscopic adrenalectomy without intraoperative or postoperative complications. The total blood loss was 50 cc, and the operative time was 4 h. The histopathology of the specimen revealed pheochromocytomas of adrenal masses. In conclusion, our case demonstrates that synchronized laparoscopic bilateral adrenalectomy can be a safe and feasible treatment option for pheochromocytomas in MEN2 patients.</p>","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"9 3","pages":"24-28"},"PeriodicalIF":1.6,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33467023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary Leiomyomatosis and Renal Cell Cancer","authors":"Catarina Machado, Maria Sofia Quental, J. R. Brandão, M. Silva‐Ramos","doi":"10.1007/978-3-642-16483-5_2682","DOIUrl":"https://doi.org/10.1007/978-3-642-16483-5_2682","url":null,"abstract":"","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"1 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2022-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43503134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Massive Malignant Epithelioid Angiomyolipoma of the Kidney","authors":"Isaac M. Tessone, Benjamin Lichtbroun, A. Srivastava, Alexandra L. Tabakin, Charles F Polotti, R. Groisberg, Evita T. Sadimin, E. Singer, M. Grandhi","doi":"10.15586/jkcvhl.v9i2.210","DOIUrl":"https://doi.org/10.15586/jkcvhl.v9i2.210","url":null,"abstract":"Renal angiomyolipomas (AMLs) are a subset of perivascular epithelioid cell neoplasms (PEComas) that are associated with tuberous sclerosis complex (TSC). Epithelioid angiomyolipomas (EAMLs) are a rare variant of AML with more aggressive propensities. EAMLs with malignant potential can be difficult to distinguish from relatively benign AMLs and other renal tumors. Although there are no established criteria for predicting EAML malignancy, there are proposed histologic parameters that are associated with higher tumor risk. EAML can be treated with surgical resection as well as mTOR inhibitors. Here, we present a unique case of a patient with a 36-cm renal EAML metastatic to the lungs that was treated with complete surgical resection of the primary lesion and mTOR inhibition.","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"9 1","pages":"13 - 18"},"PeriodicalIF":1.6,"publicationDate":"2022-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46081643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Distribution of New Renal Cell Carcinoma Cases: 27-Year Trends from a Statewide Cancer Registry","authors":"Ahmad Alzubaidi, Stephen P Sekoulopoulos, J. Pham, Vonn Walter, Jay G. Fuletra, J. Raman","doi":"10.15586/jkcvhl.v9i2.219","DOIUrl":"https://doi.org/10.15586/jkcvhl.v9i2.219","url":null,"abstract":"Nationwide databases have implicated an increased incidence of renal cell carcinoma (RCC). The Pennsylvania (PA) Cancer Registry was queried to better define incidence, geographic distribution, and statewide trends of new RCC cases over a 27-year period. JoinPoint Trend Analysis Software modeled average annual percent changes (APCs) in age-adjusted rates (AAR). Maps plotting county-level incidence rates and stage distribution of disease across the state in 5-year time intervals were created using R 4.0.2 software. Overall, 59,628 cases of RCC were recorded in PA from 1990 to 2017. Eighty six percent of patients were >50 years of age, 61% were males, and 89% were Caucasian. Stage distribution using the SEER staging system included 64% local, 17% regional, and 16% distant. Over the study interval, AAR of all RCC cases increased from 9.9 to 18.0 patients per 100,000 population with an APC of 2.3% (p < 0.01). AAR of local disease increased from 5.4 to 12.7 patients per 100,000 population with an APC of 3.2% (p < 0.01). AAR of regional disease also increased from 1.9 to 2.9 patients per 100,000 population with an APC of 1.0% (p = 0.01). Younger patients (<50 years) had a greater rate of increase than older counterparts (APC 3.8% vs. 2.0%, p < 0.05). Geospatial investigation of new RCC cases noted certain geographic concentrations of greater disease incidence. The incidence of RCC in PA has increased over the past 27 years in PA. One-third of the cases are regional or metastatic at presentation and rates of increase were most notable in younger patients.","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"9 1","pages":"7 - 12"},"PeriodicalIF":1.6,"publicationDate":"2022-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43355062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Levels of PD-L1+ and Hyal2+ Myeloid-derived Suppressor Cells in Renal Cell Carcinoma","authors":"S. Kusmartsev, Elizabeth P. Kwenda, Paul R. Dominguez-Gutierrez, P. Crispen, P. O'Malley","doi":"10.15586/jkcvhl.v9i2.208","DOIUrl":"https://doi.org/10.15586/jkcvhl.v9i2.208","url":null,"abstract":"Renal cell carcinoma (RCC) patients frequently have increased number of immunosuppressive myeloid cells in circulation. High number of myeloid-derived suppressor cells (MDSCs) in the blood are associated with immune suppression as well as with cancer-related inflammation which drives the mobilization of myeloid cells to tumor tissue. Here, we show that peripheral blood from a previously untreated RCC patient has increased the number of monocytic CD33+CD11b+ MDSCs, which also co-expressed PD-L1 and membrane-bound enzyme hyaluronidase 2 (Hyal2). PD-L1 expression is associated with immune suppression, whereas expression of Hyal2 is associated with inflammation, because Hyal2+ myeloid cells can degrade the extracellular hyaluronan (HA), leading to the accumulation of pro-inflammatory HA fragments with low molecular weight. These findings implicate the potential involvement of monocytic MDSCs in both tumor-associated immune suppression and cancer-related inflammation. Analysis of organotypic tumor-tissue slice cultures prepared from cancer tissue of the same patient revealed the significant presence of PD-L1+ HLA-DR+ macrophage-like or dendritic cell-like antigen-presenting cells in tumor stroma. Interestingly, stroma-associated PD-L1+ cells frequently have intracellular hyaluronan. Collectively, data presented in this study suggest that the interplay between tumor-recruited myeloid cells and stromal HA may contribute to the inflammation and immune tolerance in kidney cancer.","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"9 1","pages":"1 - 6"},"PeriodicalIF":1.6,"publicationDate":"2022-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46108715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Rhabdomyosarcoma of Kidney with Local Recurrence and Liver Metastasis in Adults: A Case Report","authors":"H. Nasrollahi, Ali Eslahi, Ali Ariafar, F. Ahmed, A. Monabati","doi":"10.15586/jkcvhl.v9i1.218","DOIUrl":"https://doi.org/10.15586/jkcvhl.v9i1.218","url":null,"abstract":"Primary rhabdomyosarcoma (RMS) of the kidney in an adult is rare, with only a few cases published in the literature. It is a mesenchymal tumor associated with an aggressive and rapid clinical progression course. We present a case of primary renal RMS in a 58-year-old female who presented with intermittent abdominal pain in the past year. The computed tomography (CT) scan revealed a 20×25×8 cm heterogeneous solid mass in the middle pole extended to the lower pole of the right kidney. Therefore, the patient underwent a right radical nephroureterectomy. Histopathology examination and immunohistochemistry studies confirmed the diagnosis of RMS with pleomorphic components. Postoperatively, the patient was discharged without any complications and was referred to an oncologist for chemotherapy. However, a follow-up CT scan in 2 months showed widespread liver metastasis and local recurrence. The patient received Gemcitabine and Docetaxel, but her condition worsened, and she passed away 5 months later. Primary renal RMS is rare in adults. In addition, liver metastasis is uncommon and poorly understood. Hence, we describe the clinicopathologic characteristics, including clinical follow-up of our case, focusing on the disease progression, treatment, and outcome.","PeriodicalId":44291,"journal":{"name":"Journal of Kidney Cancer and VHL","volume":"9 1","pages":"55 - 58"},"PeriodicalIF":1.6,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67104234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}