Journal of Kidney Cancer and VHL <p>Journal of Kidney Cancer and VHL (ISSN: 2203-5826) is indexed in <strong>PubMed</strong>,&nbsp;Emerging Sources Citation Index&nbsp;of <strong>Web of Science</strong>, and the Directory of Open Access Journals (<strong>DOAJ</strong>). Journal is dedicated for the dissemination of research findings in kidney cancer and VHL.</p> en-US (​Dr. Ulka Vaishampayan) (Scott Bryant, Managing Editor) Thu, 08 Apr 2021 13:57:39 +0000 OJS 60 Hypoxia-Inducible Factor-2 Alpha as a Novel Target in Renal Cell Carcinoma <p>Hypoxia-inducible factor (HIF), an important mediator of hypoxia response, is implicated in tumorigenesis in the setting of pseudohypoxia, such as in the inactivation of von Hippel–Lindau tumor suppressor protein (pVHL), leading to development and progression of clear cell renal cell carcinoma (ccRCC). Targeting downstream molecules in HIF pathway, such as vascular endothelial growth factor (VEGF), has led to improvement in clinical outcome for patients with advanced ccRCC, but such therapy thus far has been limited by eventual resistance and treat-ment failure. Following the discovery of HIF-2 alpha playing a key role in ccRCC carcinogenesis, inhibitors targeting HIF-2 alpha have been developed and have demonstrated encouraging efficacy and safety profile in clinical trials. This review discusses HIF-2 alpha as a promising therapeutic target for ccRCC.</p> WonSeok W. Choi, Julia L. Boland, Jianqing Lin Copyright (c) 2021 WonSeok W. Choi, Julia Boland, Jianqing Lin Wed, 07 Apr 2021 00:00:00 +0000 Nephrectomy Delay of More than 10 Weeks from Diagnosis Is Associated with Decreased Overall Survival in pT3 RCC <p>In this study, we aimed to evaluate the impact of surgical wait time (SWT) on outcomes of patients with renal cell carcinoma (RCC), and to investigate risk factors associated with prolonged SWT. Using the National Cancer Database, we retrospectively reviewed the records of patients with pT3 RCC treated with radical or partial nephrectomy between 2004 and 2014. The cohort was divided based on SWT. The primary out-come was 5-year overall survival (OS). Logistic regression analysis was used to investigate the risk factors associated with delayed surgery. Cox proportional hazards models were fitted to assess relations between SWT and 5-year OS after adjusting for confounding factors. A total of 22,653 patients were included in the analysis. Patients with SWT &gt; 10 weeks had higher occurrence of upstaging. Using logistic regression, we found that female patients, African-American or Spanish origin patients, treatment in academic or integrated network cancer center, lack of insurance, median household income of &lt;$38,000, and the Charlson–Deyo score of ≥1 were more likely to have prolonged SWT. SWT &gt; 10 weeks was associated with decreased 5-year OS (hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.15–1.33). This risk was not markedly attenuated after adjusting for confounding variables, including age, gender, race, insurance status, Charlson–Deyo score, tumor size, and surgical margin status (adjusted HR, 1.13; 95% CI, 1.04–1.24). In conclusion, the vast majority of patients underwent surgery within 10 weeks. There is a statistically significant trend of increasing SWT over the study period. SWT &gt; 10 weeks is associated with decreased 5-year OS.</p> Jiping Zeng, Ken Batai, Benjamin Lee Copyright (c) 2021 Jiping Zeng, Ken Batai, Benjamin Lee Mon, 14 Jun 2021 00:00:00 +0000 Partial Nephrectomy A Comparison between Different Modalities <p>Kidney cancer, with 4% of all malignancies, is one of the most common malignancies occurring among in adults. In Saudi Arabia, kidney cancer comprises 2.3% of all cancers, and its incidence has increased by 33%. Partial nephrectomy (PN) is considered as the gold standard for T1 renal masses.<br />In this retrospective study, we did a chart review for all patients who underwent PNs between April 2013 and February 2019. Data comprised pre-sentation, tumor size, type of procedure (open vs. laparoscopic vs. robotic), and intra- and post-operative complications. Chi-square, ANOVA, and cross-tabulation were done using SPSS software. P &gt; 0.05 was considered significant. Approval was obtained from the institutional review board of King Abdullah International Medical Research Center.<br />In all, 69 patients were identified: 26 (37.7%) males and 43 (62.3%) females, with mean age = 54.53 ± 13.21 years; mean body mass index = 32.36 ± 7.03, and mean tumor size = 3.7 ± 1.72 cm. In terms of presentation, most patients (50, 72.4%) presented incidentally as opposed to symptomatic presentation. Of these patients, 18 (26.1%) underwent open partial nephrectomy (OPN), 29 (42%) laparoscopic partial nephrec-tomy (LPN), and 22 (31.9%) robotic partial nephrectomy (RPN). On comparing minimally invasive surgery (MIS) PN with OPN, we found that OPN had more blood loss and a longer hospital stay but a shorter operating room (OR) time.<br />Results of PN irrespective of the procedure type, whether it was OPN, LPN, or RPN, were similar if performed by experienced surgeons. However, open procedures involved a higher blood loss, more operative time, and longer hospital stay when compared with minimally invasive techniques.</p> Ahmed Al Asker, Abdulmalik Addar, Mohammed Alghamdi, Saud Alawad, Mohammed Alharbi, Saeed Bin Hamri, Nasser Albqami, Abdullah Alkhayal, Khaled Alrabeeah Copyright (c) 2021 Ahmed Al Asker, Abdulmalik Addar, Mohammed Alghamdi, Saud Alawad, Mohammed Alharbi, Saeed Bin Hamri, Nasser Albqami, Abdullah Alkhayal, Khaled Alrabeeah Thu, 17 Jun 2021 00:00:00 +0000 Wilms’ Tumor in Adults—Conventional and Unconventional Presentations of a Rare Entity with a Review of Literature <p>Wilms’ tumor (WT) in adults is a rare neoplasm. Only a few reports are available in the literature. The tumor often masquerades as renal cell carcinoma (RCC). For accurate reporting, histopathological examination (HPE) plays a vital role in early diagnosis and prompt administration of multimodality treatment helps to improve the prognosis.<br />We comprehensively analyzed five cases of adult WT presenting in the third to fifth decade with flank pain, hematuria, fever, and palpable lump. After complete clinical, biochemical, radiological, and HPE evaluation, tumor was staged and treatment was planned accordingly.<br />Patients with low-stage WT were treated with open radical nephrectomy and chemotherapy. One of the patients diagnosed with inferior vena cava (IVC) thrombus apart from the above treatment also underwent IVC thrombectomy. Another young male presenting with distant metastasis (stage IV) and focal anaplasia on histology received preoperative chemotherapy and then planned for surgery. Unfortunately, the tumor being unresectable, second-line chemotherapy was given but he ultimately succumbed to death. All other patients are on regular follow-up and disease-free.<br />Adult nephroblastoma is a rare clinical entity with hostile behavior. The presence of IVC thrombus is not a contraindication to surgery. Although the management strategy as per pediatric protocol by the inclusion of multimodality approach improves survival, still the overall prognosis in adults is dismal. There is a need for a standardized treatment protocol to encourage a homogenous approach for this rare disease and thereby improve survival.</p> Sujata Tripathi, Amit Mishra, Vijay C Popat, Syed Altaf Husain Copyright (c) 2021 Sujata Tripathi, Amit Mishra, Vijay C Popat, Syed Altaf Husain Tue, 20 Jul 2021 00:00:00 +0000 Renal Epithelioid Angiomyolipoma in Children <p>Renal angiomyolipoma is a rare cause of renal tumor in children. Most are associated with tuberous sclerosis, and the classic type is observed more commonly. Epithelioid angiomyolipoma is even rarer with only limited case reports and series published in literature, most of which are of adult patients. We describe a 12-year-old boy, a diagnosed patient of tuberous sclerosis, who presented with pain in the left flank. On evaluation, it was found to have a left renal mass with the clinical picture suggestive of renal cell carcinoma. Partial nephrectomy was performed and histopathology revealed epithelioid angiomyolipoma. The child was asymptomatic at follow-up after 3 months. Only a few such cases in children are found in literature, which are discussed alongside. Differential diagnosis of this rare tumor must be kept in mind in a renal tumor as surgery is generally curative in this possibly malignant tumor. Metastasis confers a poor prognosis. Chemotherapy is generally not effective, although various regimens have been tried. Tumor recurrence must be kept in mind and a follow-up after apparent complete remission is of paramount importance.</p> Dhruv Mahajan, Vishesh Jain, Sandeep Agarwala, Manisha Jana, Prashant P Ramteke Copyright (c) 2021 Dhruv Mahajan, Vishesh Jain, Sandeep Agarwala, Manisha Jana, Prashant P Ramteke Fri, 04 Jun 2021 00:00:00 +0000 Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis <p>Lynch syndrome (LS) is an autosomal dominant inherited disorder due to pathogenic variations in the mismatch repair genes, which predisposes to malignancies, most commonly colon and endometrial carcinoma. Muir-Torre syndrome is a subset of LS with cutaneous sebaceous adenoma and keratoacanthoma in addition to the malignancies. Renal cell carcinoma (RCC) in patients with LS is extremely rare. Only 26 cases have been reported and among them, only two cases of papillary RCC. We report a case of synchronous papillary RCC and colonic adenocarcinoma in an 85-year-old male with Lynch/Muir-Torre syndrome. The LS was diagnosed when he presented with multiple sebaceous adenomas and genetic testing showed a pathogenic variant in <em>MSH6</em> mismatch repair gene. A colonoscopy at that time showed multiple tubular adenomas with high-grade dysplasia. He was lost to follow-up and presented with gastrointestinal bleeding after 20 years. A right colonic mass, and a solid mass in the lower pole of the right kidney, was detected by imaging. Right Colectomy showed a T3N0 mucin-producing adenocarcinoma. Right nephrectomy showed a T3a papillary RCC which was microsatellite stable with <em>MSH6</em>, and <em>KRAS</em> mutation. The 36-month follow-up exams showed additional sebaceous neoplasms, and an absence of metastatic carcinoma. Analysis of the reported cases of RCC in LS show clear cell RCC as the most common type. These tumors showed <em>MLH1</em> mutation most commonly, unlike the urothelial malignancies in LS which involve <em>MSH2</em>. Among the 4 cases of RCC with <em>MSH6</em> mutation, three were in females, indicating some gender differences.</p> Yu Yang, Shweta Dhar, Jennifer Taylor, Bhuvaneswari Krishnan Copyright (c) 2021 Yu Yang, Shweta Dhar, Jennifer Taylor, Bhuvaneswari Krishnan Wed, 21 Apr 2021 00:00:00 +0000