scholarly journals A genomic mutation spectrum of collecting duct carcinoma in the Chinese population

2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Huaru Zhang ◽  
Xiaojun Lu ◽  
Gang Huang ◽  
Meimian Hua ◽  
Wenhui Zhang ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Chinese Population ◽  
Sanger Sequencing ◽  
Collecting Duct ◽  
The Cancer Genome Atlas ◽  
Mutation Spectrum ◽  
Small Scale ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Genomic Mutation

Abstract Background Renal collecting duct carcinoma (CDC) is a rare and lethal subtype of renal cell carcinoma (RCC). The genomic profile of the Chinese population with CDC remains unclear. In addition, clinical treatments are contradictory. In this study, we aimed to identify the genomic mutation spectrum of CDC in the Chinese population. Methods Whole-exome sequencing was performed using the Illumina Novaseq™ 6000 platform. MuTect2 detects single-nucleotide variants (SNVs) and small scale insertions/deletions (INDELs). The identified mutations were annotated with ANNOVAR and validated by Sanger sequencing. Control-FREEC was used to detect copy number variation (CNV), and GISTIC was applied to detect frequently mutated altered regions. These data were compared with associated The Cancer Genome Atlas cohorts. Results Ten normal-matched CDC patients were included. The mean tumour mutation burden was 1.37 Mut/Mb. Six new recurrent somatic mutated genes were identified, including RBM14, MTUS1, GAK, DST, RNF213 and XIRP2 (20% and 2 of 10, respectively), and validated by Sanger sequencing. In terms of common mutated genes, SETD2 was altered in both CDC and other RCC subtypes but not in bladder urothelial carcinoma (BLCA); CDKN2A was a driver gene in both CDC (SNV: 10%, 1 of 10) and BLCA but not in other RCC subtypes. Next, 29 amplifications and 6 deletions of recurrent focal somatic CNVs were identified by GISTIC2.0, which displayed differences from kidney renal clear cell carcinoma (KIRC), kidney renal papillary cell carcinoma (KIRP) and BLCA cohorts. Of note, CDKN2A (CNV alteration: 30%, 3 of 10) and CDKN2A-AS1 were the only overlapping genes of these four cohorts. Importantly, the CDKN2A mutation in our cohort differed from previous studies in urinary carcinomas. Moreover, CDKN2A-altered cases had significantly worse overall survival than wild-type cases in both KIRC and KIRP cohorts. In addition, the most frequently altered genomic pathway of our CDC cohort was the CDKN2A-mediated p53/RB1 pathway. Conclusions Our study offers the first genomic spectrum of the Chinese population with CDC, which differs from that of the Western population. The altered CDKN2A-mediated p53/RB1 pathway might provide new insight into potential therapeutic targets for CDC patients.

scholarly journals Collision tumor of the kidney composed of clear cell carcinoma and collecting duct carcinoma treated with cabozantinib and nivolumab

2020 ◽  
Vol 2 ◽  
pp. 100039
Author(s):  
Carlos Eduardo Salazar-Mejía ◽  
Víctor Manuel Oyervides-Juárez ◽  
Blanca Otilia Wimer-Castillo ◽  
Oscar Vidal-Gutiérrez ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma ◽  
Collecting Duct ◽  
Collision Tumor ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma

scholarly journals A very rare case report:Renal cell carcinoma metastasizing to the tonsil after 5 years of radical nephrectomy

2019 ◽  
Vol 6 (12) ◽  
pp. 4654-4656
Author(s):  
Yücel Kılıçkap ◽  
Mehmet Aktaş ◽  
Lezgin Kıran ◽  
Abdullah Gedik ◽  
M.Kamuran Bircan
Keyword(s):  
Cell Carcinoma ◽  
Rare Case ◽  
Clear Cell ◽  
Histopathological Examination ◽  
Collecting Duct ◽  
Neck Region ◽  
Duct Carcinoma ◽  
Head And Neck Region ◽  
Collecting Duct Carcinoma

Renal cell carcinoma (RCC), is the most common kidney cancer, that accounts for approximately  90% of all adult renal malignancies with 30% of patients presenting with metastasis at initial diagnosis.There are several reports of metastases developing after 10-20 years even if curative nephrectomy has been made. Clear cell (60%-75%), papillary (10%-15%), chromophobe (5%), and collecting duct carcinoma are well characterized subtypes of RCC.Renal cell carcinoma mainly metastasizes to the lungs,the bones,the liver,the lymph nodes and brain.Metastasis to the head and neck region is rare.In this case report we present a tonsil metastasis after 5 years of nephrectomy.Surgery with histopathological examination confirmed that metastasis of clear cell carcinom.The patient was successfully treated by surgery and referred to oncology.Later he was out of our follow-up.

scholarly journals CT and MRI findings of cystic renal cell carcinoma: comparison with cystic collecting duct carcinoma

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qingqiang Zhu ◽  
Jun Ling ◽  
Jing Ye ◽  
Wenrong Zhu ◽  
Jingtao Wu ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Collecting Duct ◽  
Imaging Features ◽  
Mri Findings ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Cystic Renal Cell Carcinoma ◽  
T2 Weighted Images

Abstract Background Cystic renal cell carcinoma (CRCC) and cystic collecting duct carcinoma (CCDC) share similar oncogeni and some imaging findings. The aim of this study was to characterize the clinical and CT imagings features of CRCC and CCDC. Methods Thirty-three patients with CRCC and thirteen patients with CCDC with pathologically proven were retrospectively studied. Tumor characteristics were assessed. Results On CT imaging, 33 patients(100 %) with CRCC and 13 patients(100 %) with CCDC, tumors calcifications (8 vs. 9, P < 0.0001), had a clear boundary (capsule sign, 30 vs. 2, P < 0.0001), infiltrative appearance (1 vs. 13, P < 0.0001), exogenous appearance (29 vs. 3, P < 0.0001), invaded the renal pelvis or ureter (1 vs. 10, P < 0.0001), hemorrhage (1 vs. 10, P < 0.0001), had retroperitoneal lymph node or distant metastasis (2 vs. 10, P < 0.0001), thickened enhancing internal septations (31 vs. 2, P < 0.0001), and mural soft-tissue nodules (21 vs. 1, P < 0.0001). On MR imaging,13 patients(39 %) with CRCC and 4 patients(31 %) with CCDC, all CRCCs appeared hypointense on T1-weighted images and hyperintense on T2-weighted images, however, all CCDCs appeared hypointense on T1-weighted images and hypointense on T2-weighted images(P < 0.0001). 33 patients with CRCC, they were all alive from3 years to 10 years follow-up, however, 13 patients with CCDC, of which 11 patients were able to be followed up, and 9 patients expired within 5 years of the initial diagnosis and the others are currently still alive. Conclusions Distinguishing features of CRCC and CCDC included calcifications, capsule signs, infiltrative appearance, metastasis, internal septations, mural nodules and signal on CT or MR images. These imaging features may help in differentiating the two renal tumor types.

Renal Cell Carcinoma, Chromophobe Type, With Collecting Duct Carcinoma and Sarcomatoid Components

2003 ◽  
Vol 127 (1) ◽  
pp. e38-e40 ◽  
Author(s):  
Yun Gong ◽  
Xiaoping Sun ◽  
G. Kenneth Haines ◽  
Michael R. Pins
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Collecting Duct ◽  
Inflammatory Cells ◽  
Chromophobe Renal Cell Carcinoma ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Collecting Duct Epithelium ◽  
Immunohistochemical Studies

Abstract We report a case of a 72-year-old man with a chromophobe renal cell carcinoma that had both sarcomatoid and collecting duct carcinoma components. The 7-cm tumor occupied the entire lower pole of the kidney and infiltrated the renal parenchyma and the pelvic-calyceal system. Histologically, it had an area of classic chromophobe renal cell carcinoma that merged into a sarcomatoid component. Closely intermixed with the sarcomatoid component was a collecting duct carcinoma component characterized by highly pleomorphic, epithelioid cells arranged in cords, nests, and tubulomicrocystic structures. The cords, nests, and tubules were associated with a florid desmoplastic stromal response and numerous inflammatory cells. In addition, dysplastic changes were noted in adjacent nonneoplastic collecting duct epithelium. Immunohistochemical studies confirmed the presence of 3 distinct components in this patient's tumor. To the best of our knowledge, this is the first reported case of a chromophobe renal cell carcinoma with sarcomatoid and collecting duct carcinoma components.

Sarcomatoid Renal Cell Carcinoma and Collecting Duct Carcinoma

2017 ◽  
Vol 24 (10) ◽  
pp. 1226-1232 ◽  
Author(s):  
Jonathan R. Young ◽  
Jocelyn A. Young ◽  
Daniel J.A. Margolis ◽  
Steven Sauk ◽  
James Sayre ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Collecting Duct ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Sarcomatoid Renal Cell Carcinoma

Renal Tumor With Overlapping Distal Nephron Morphology and Karyotype

2004 ◽  
Vol 128 (11) ◽  
pp. 1274-1278 ◽  
Author(s):  
Valerie Lindgren ◽  
Gladell P. Paner ◽  
Robert C. Flanigan ◽  
Joseph I. Clark ◽  
Steven C. Campbell ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Collecting Duct ◽  
Chromophobe Renal Cell Carcinoma ◽  
Renal Tumors ◽  
Distal Nephron ◽  
Duct Carcinoma ◽  
Collecting Duct Carcinoma ◽  
Not Otherwise Specified

Abstract Although most renal epithelial tumors are derived from the proximal nephron, approximately 10% are believed to originate in the distal nephron. This latter group encompasses oncocytoma, chromophobe renal cell carcinoma, and several rare types, including collecting duct carcinoma and renal medullary carcinoma. Despite progress in the classification of renal tumors, a small subset of renal carcinomas remains unclassified (ie, renal cell carcinoma, not otherwise specified). We describe a metastatic tumor consisting of cells with overlapping distal nephron morphologies, including foci of oncocytoma, chromophobe renal cell carcinoma, and collecting duct carcinoma, as well as sarcomatoid dedifferentiation. Special stains were inconclusive, and ultrastructural study demonstrated abundant mitochondria and no microvesicles. The karyotype was hypodiploid with 41 chromosomes and abnormalities reported in all 3 phenotypes present. Rearrangements of 1p and of 11q13 previously seen in divergent subsets of oncocytomas were concomitantly present in the current tumor. Thus, this malignancy has features consistent with distal nephron derivation and demonstrates the convergence of the varied tumor morphologies arising within this site. Furthermore, this case exemplifies the value of cytogenetic analysis in the characterization of renal cell carcinoma, not otherwise specified. In view of recent advances in treatment approach, especially for collecting duct carcinoma, further categorization of this nondescript and heterogeneous group of renal cell carcinomas, not otherwise specified, at least by its derivation in relationship to the renal nephron (distal vs proximal), may be of value in the choice of treatment modality.

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