Localised renal Langerhans cell histiocytosis coexisting with unilateral renal clear cell carcinoma

2021 ◽  
Vol 14 (4) ◽  
pp. e237236
Author(s):  
Saddam Yasin ◽  
Ike Uzoaru ◽  
Gregory Maurer

Langerhans cell histiocytosis (LCH) is an uncommon group of disorders, which can be either localised or systemic, characterised by abnormal proliferation of monocytes, macrophages and dendritic cells. These disorders represent an aberrant response of myeloid progenitor cells. Bones are the most commonly affected organ but there can be involvement of the skin, lungs, liver and spleen. Renal involvement, however, is rare. LCH is the most commonly seen in children but certain rare forms such as Erdheim-Chester disease can be seen in adults. In this report, we present a case of clear cell renal adenocarcinoma (CCRC) admixed with LCH in a patient with history of smoking and presenting with abdominal pain and heamaturia. Imaging revealed left renal lesion and subsequently left renal nephrectomy was performed with tissue biopsy showing grade 3 clear cell renal cell carcinoma admixed with neoplastic LCH.

2017 ◽  
Vol 26 (2) ◽  
pp. 194-196 ◽  
Author(s):  
Hee Jung Kwon ◽  
Phil Hyun Song ◽  
Mi Jin Gu

Langerhans cell histiocytosis is a rare disease that is characterized by a localized or systemic proliferation of Langerhans dendritic cells and a wide spectrum of clinical presentations. We experienced an unusual case of occult Langerhans cell histiocytosis associated with clear cell renal cell carcinoma. A 62-year-old man underwent a partial nephrectomy for left renal mass. Histologic examination showed nests of clear cells with surrounding thin-walled vessel that were suggestive of clear cell renal cell carcinoma. A well-defined nodule composed of atypical mononuclear cells and plentiful eosinophils presented within clear cell renal cell carcinoma. The mononuclear cells were Langerhans cell histiocytes with S-100 and CD1a immunoreactivity. On follow-up comprehensive physical, laboratory, and radiologic examination, there were no other lesions of Langerhans cell histiocytosis.


Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 440
Author(s):  
Yitong Zhang ◽  
Jiaxing Wang ◽  
Xiqing Liu

Kidney renal clear cell carcinoma (KIRC) is the most common and fatal subtype of renal cancer. Antagonistic associations between selenium and cancer have been reported in previous studies. Selenium compounds, as anti-cancer agents, have been reported and approved for clinical trials. The main active form of selenium in selenoproteins is selenocysteine (Sec). The process of Sec biosynthesis and incorporation into selenoproteins plays a significant role in biological processes, including anti-carcinogenesis. However, a comprehensive selenoprotein mRNA analysis in KIRC remains absent. In the present study, we examined all 25 selenoproteins and identified key selenoproteins, glutathione peroxidase 3 (GPX3) and type 1 iodothyronine deiodinase (DIO1), with the associated prognostic biomarker leucine-rich repeat containing 19 (LRRC19) in clear cell renal cell carcinoma cases from The Cancer Genome Atlas (TCGA) database. We performed validations for the key gene expression levels by two individual clear cell renal cell carcinoma cohorts, GSE781 and GSE6344, datasets from the Gene Expression Omnibus (GEO) database. Multivariate survival analysis demonstrated that low expression of LRRC19 was an independent risk factor for OS. Gene set enrichment analysis (GSEA) identified tyrosine metabolism, metabolic pathways, peroxisome, and fatty acid degradation as differentially enriched with the high LRRC19 expression in KIRC cases, which are involved in selenium therapy of clear cell renal cell carcinoma. In conclusion, low expression of LRRC19 was identified as an independent risk factor, which will advance our understanding concerning the selenium adjuvant therapy of clear cell renal cell carcinoma.


2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e16067-e16067
Author(s):  
Tarek Haykal ◽  
Varun Samji ◽  
Yazan Zayed ◽  
Ragheed Al-Dulaimi ◽  
Inderdeep Gakhal ◽  
...  

e16067 Background: Metastatic clear-cell renal cell carcinoma (RCC) is largely incurable, and its treatment remains challenging. Sunitinib, a tyrosine kinase inhibitor, is one of the current standard-of-care options for treatment-naïve patients with metastatic RCC. Despite the proven efficacy of Sunitinib, prolonged treatment with some tyrosine kinase inhibitors (TKIs) has been associated with significant adverse events (AEs). Therefore, we aimed to calculate the exact efficacy in addition to the prevalence of all AEs of Sunitinib in a pooled analysis from all available randomized controlled trials (RCTs). Methods: A comprehensive electronic database search was conducted for all RCTs comparing the clinical outcomes and adverse events of Sunitinib versus all other available treatments for treatment-naïve advanced/metastatic clear-cell renal cell carcinoma. We then calculated the pooled outcomes and prevalence of the most common reported side effects of Sunitinib. All statistical analyses were performed using R Statistical Software v3.4.0 (R Foundation, Vienna, Austria). Results: We included 8 RCTs, with a total of 4106 patients. The mean age was62, with 66.44% males.The efficacy of Sunitinib was reported as 3 main outcomes: Median progression free survival at 10.73 [7.76, 13.7] months, median overall survival at 23.28 [16.74, 29.81] months and the estimated objective response rate at 25[13, 37] %. Any grade AEs were reported in 72% of patients with the following frequencies: fatigue 44%, diarrhea 38%, nausea 31%, hand-foot syndrome 30%, hypertension 27%, dysgeusia 25%, hypothyroidism25%, constipation 20%, stomatitis 20%, inflammation of the mucosa 18%, dyspepsia 16%, vomiting 14%, rash 12%, asthenia 11%, and epistaxis10%.Grade 3&4 (severe) AEs were reported in 52% of patients with the following frequencies: hypertension 9%, fatigue 8%, hand-foot syndrome 5%, asthenia 5%, diarrhea 4%, and inflammation of the mucosa 2%. Conclusions: Despite Sunitinib being one of the current standard treatments for patients with metastatic/advanced clear-cell RCC, with well-described efficacy, its safety profile is still concerning with a significant prevalence of reported grade 3-4 AEs of 52% of the treated patients in the included RCTs. These findings underscore the importance of the emergence of newer drugs and treatment plans for patients with metastatic RCC, not only to achieve similar or better clinical outcomes but also to decrease the percentage of grade 3-4 AEs.


2021 ◽  
Vol 8 ◽  
Author(s):  
Yi Wang ◽  
Yinhao Chen ◽  
Bingye Zhu ◽  
Limin Ma ◽  
Qianwei Xing

Background: This study was designed to establish a sensitive prognostic model based on apoptosis-related genes to predict overall survival (OS) in patients with clear cell renal cell carcinoma (ccRCC).Methods: Obtaining the expression of apoptosis-related genes and associated clinical parameters from online datasets (The Cancer Genome Atlas, TCGA), their biological function analyses were performed through differently expressed genes. By means of LASSO, unadjusted and adjusted Cox regression analyses, this predictive signature was constructed and validated by internal and external databases (both TCGA and ArrayExpress).Results: A total of nine apoptosis-related genes (SLC27A2, TNFAIP2, IFI44, CSF2, IL4, MDK, DOCK8, WNT5A, APP) were ultimately screened as associated hub genes and utilized to construct a prognosis model. Then our constructed riskScore model significantly passed the validation in both the internal and external datasets of OS (all p < 0.05) and verified their expressions by qRT-PCR. Moreover, we conducted the Receiver Operating Characteristic (ROC), finding the area under the ROC curves (AUCs) were all above 0.70 which indicated that riskScore was a stable independent prognostic factor (p < 0.05). Furthermore, prognostic nomograms were established to figure out the relationship between 1-, 3- and 5-year OS and individual parameters for ccRCC patients. Additionally, survival analyses indicated that our riskScore worked well in predicting OS in subgroups of age, gender, grade, stage, T, M, N0, White (all p < 0.05), except for African, Asian and N1 (p > 0.05). We also explored its association with immune infiltration and applied cMap database to seek out highly correlated small molecule drugs.Conclusion: Our study successfully constructed a prognostic model containing nine hub apoptosis-related genes for ccRCC, helping clinicians predict patients’ OS and making the prognostic assessment more standardized. Future prospective studies are required to validate our findings.


F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 1044
Author(s):  
Imen Ben Ismail ◽  
Hakim Zenaidi ◽  
Raja Jouini ◽  
Saber Rebii ◽  
Ayoub Zoghlami

Clear cell carcinoma has been described in numerous anatomic sites, but the renal location is the most frequent. Its occurrence in the stomach is exceptional. Here, we report the case of a 51-year-old woman who presented with epigastric pain of four months. The upper gastrointestinal endoscopic examination revealed a polypoid tumor of the greater curvature of the stomach. Biopsies showed a poorly differentiated carcinoma with a signet-ring cell component. The CT scan revealed a polypoid mass of the vertical part of the greater gastric curvature. There was no renal lesion. A distal subtotal gastrectomy was performed, and the post-operative course was uneventful. The gross exam showed a 6.5 cm, polypoid ulcerated tumor of the antrum. Histological analysis showed a clear cell gastric carcinoma. The immunohistochemical study, performed to rule out a metastasis from renal carcinoma, showed that tumor cells didn’t express CD10 and vimentin. We therefore retained the diagnosis of a primary gastric clear cell carcinoma. Pure primary clear cell carcinomas of the stomach are exceedingly rare and are associated with a poor prognosis. Immunohistochemistry is the cornerstone of the diagnosis of these tumors to rule out metastases from a renal clear cell carcinoma.


2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Hui Meng ◽  
Xuewen Jiang ◽  
Jianfeng Cui ◽  
Gang Yin ◽  
Benkang Shi ◽  
...  

Clear cell renal cell carcinoma (ccRCC) accounts for more than 75% of renal cell carcinoma. Nearly 25% of ccRCC patients were diagnosed with metastasis. Though the genomic profile of ccRCC has been widely studied, the difference between localized and metastatic ccRCC was not clarified. Primary tumor samples and matched whole blood were collected from 106 sporadic patients diagnosed with renal clear cell carcinoma at Qilu Hospital of Shandong University from January 2017 to November 2019, and 17 of them were diagnosed with metastasis. A hybridization capture-based next-generation sequencing of 618 cancer-related genes was performed to investigate the somatic and germline variants, tumor mutation burden (TMB), and microsatellite instability (MSI). Five genes with significantly different prevalence were identified in the metastatic group, especially TOP1 (17.65% vs. 0%) and SNCAIP (17.65% vs. 0%). The altered frequency of PBRM1 (0% vs. 27%) and BAP1 (24% vs. 10%) differed between the metastatic and nonmetastatic groups, which may relate to the prognosis. Of these 106 patients, 42 patients (39.62%) had at least one alteration in DNA damage repair (DDR) genes, including 58.82% of metastatic ccRCC patients and 35.96% of ccRCC patients without metastasis. Ten pathogenic or likely pathogenic (P/LP) variants were identified in 11 sporadic clear cell renal cell carcinoma patients (10.38%), including rarely reported ATM (n=1), MUTYH (n=1), NBN (n=1), RAD51D (n=1), and BRCA2 (n=1). No significant difference in the ratio of P/LP variant carriers or TMB was identified between the metastatic and nonmetastatic groups. We found a unique genomic feature of Chinese metastatic ccRCC patients with a higher prevalence of alterations in DDR, TOP1, and SNCAIP. Further investigated studies and drug development are needed in the future.


2021 ◽  
Vol 12 ◽  
Author(s):  
Ganglin Su ◽  
Tianshu Liu ◽  
Xiaohong Han ◽  
Hao Sun ◽  
Wenan Che ◽  
...  

Clear cell renal cell carcinoma (ccRCC or KIRC) has a high mortality rate globally. It is necessary to identify biomarkers and investigate the mechanisms those biomarkers are associated with, to improve the prognosis of patients with KIRC. N6-Methyladenosine (m6A) affects the fate of modified RNA molecules and is involved in tumor progression. Different webservers were used in our research to investigate the mRNA transcription and clinical significance of YTHDF2 in KIRC. Survival analysis revealed that patients with elevated YTHDF2 transcription had a slightly longer OS and DFS than those with low YTHDF2 expression. YTHDF2 expression was shown to be significantly associated with the abundance of immune cells such as B cells, CD8+ T cells, CD4+ T cells, macrophages, neutrophils, and dendritic cells. For a series of enrichment studies, we combined information on YTHDF2-binding molecules and expression-linked genes and identified the possible influence of “mRNA surveillance pathway,” “RNA degradation,” and “RNA transport” in the biology or pathogeny of KIRC. In addition, we identified multiple miRNA, kinase, and transcription factor targets of YTHDF2 in KIRC and constructed target networks. Overall, our findings show that YTHDF2 is a possible indicator of immune infiltration in the KIRC.


2021 ◽  
Vol 10 ◽  
Author(s):  
Jianhong Zhao ◽  
Jiangpeng Wu ◽  
Jinyan Wei ◽  
Xiaolu Su ◽  
Yanjun Chai ◽  
...  

Currently, preoperative diagnosis and differentiation of renal clear cell carcinoma and other subtypes remain a serious challenge for doctors. The liquid biopsy technique and artificial intelligence have inspired the pursuit of distinguishing clear cell renal cell carcinoma using clinically available test data. In this work, a method called liq_ccRCC based on the integration of clinical blood and urine indices through machine learning approaches was successfully designed to achieve this goal. Clinically available biochemical blood data and urine indices were collected from 306 patients with renal cell carcinoma. Finally, the integration of 18 top-ranked clinical liquid indices (13 blood samples and 5 urine samples) was proven to be able to distinguish renal clear cell carcinoma from other subtypes of renal carcinoma by cross-valuation with an AUC of 0.9372. The successful introduction of this identification method suggests that subtype differentiation of renal cell carcinoma can be accomplished based on clinical liquid test data, which is noninvasive and easy to perform. It has huge potential to be developed as a promising innovation strategy for preoperative subtype differentiation of renal cell carcinoma with the advantages of convenience and real-time testing. liq_ccRCC is available online for the free test of readers at http://lishuyan.lzu.edu.cn/liq_ccRCC.


2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 481-481
Author(s):  
Xi Nan Sheng ◽  
Yan Kong ◽  
Zhihong Chi ◽  
Chuan Liang Cui ◽  
Lu Si ◽  
...  

481 Background: Since Asian are more susceptible to hematologic toxicity caused by sunitinib. The adverse effect difference differs from that of Caucasian may be related to genetic polymorphism. This study is to explore the characteristics of gene phenotypes and potential relationship between genetic polymorphisms and thrombocytopenia in Chinese patients with metastatic clear-cell renal cell carcinoma (mcc-RCC) treated with Sunitinib. Methods: Ninety-three mcc-RCC patients treated with sunitinib were enrolled in this study. Genotype analyses were done before treatment and thrombocytopenia was recorded on the first three cycles of treatment. Genetic polymorphisms of PDGFR (rs35597368, rs1800810, rs1800813, rs1800812) AVEGFR2 (rs2071559, rs1531289, rs7692791, rs1870377) AVEGFR 3 (rs307826) ARET (rs1799939) were analyzed for a possible association with thrombocytopenia (grade 3/4) incidences. Results: Gene types of total of 10 single nucleotide polymorphisms in 4 candidate genes were according with Hardy-Weinberg law. Grade 3/4 thrombocytopenia incidence is 29%. Test results demonstrated that the incidence of grade 3/4 thrombocytopenia was increased when CG genotype in PDGFR 1171C/G (rs1800810) (p=0.048) or when GA genotype in PDGFR 735G/A (rs1800813) (p=0.050) or when AA genotype in VEGFR2 1718T/A (rs1870377) (p=0.001) were present. Conclusions: The mutation in locus of rs1800810, rs1800813 and rs1870377 may intensify the inhibition of PDGFR or VEGFR2 by sunitinib, causing the increase thrombocytopenia incidence. It is help to look for the biomarker about side effect for the patients with metastatic clear-cell renal cell carcinoma treated with sunitinib.


2021 ◽  
Author(s):  
Tiantian Ma ◽  
Cuiwen Zhu ◽  
Yiping Duan ◽  
Lingyue Chen ◽  
Jiacui Liu ◽  
...  

Abstract Renal cell carcinoma (RCC) is one of the most common malignancies of the urinary system, accounting for 3% of adult malignancies. Long non-coding RNA (lncRNA) is abnormally regulated in many cancers and can be used as a molecular marker for early diagnosis and prognosis of RCC. Here, original lncRNA datas were retrieved from TCGA, differential co-expression analysis was performed to classify immune-related lncRNA (irlncRNA) with differential expression, and the improved 0 or 1 matrix cyclic single pairing method was used to verify lncRNA pairs. Then, we performed a univariate analysis in combination with an improved Lasso penalty regression that included cross-validation, multiple repetitions, and random stimulus procedures to determine different expression irlncRNA (DEirlncRNA) pairs. AUC values under Receiver Operating Characteristic curve (ROC) were calculated to obtain the optimal model, and AIC values of each point on AUC were calculated to obtain the optimal cut-off point to distinguish the high and low risk groups of Clear-cell renal cell carcinoma (ccRCC) patients. Finally, we evaluated the new model in a variety of clinical settings including survival, clinicopathological features, tumor-infiltrating immune cells, chemotherapy, and checkpoint related biomarkers, all showing promising clinical application.


Sign in / Sign up

Export Citation Format

Share Document