Clinical Features and Treatment of Collecting Duct Carcinoma of the Kidney from the Korean Cancer Study Group Genitourinary and Gynecology Cancer Committee

Kwon, Kee Hwan; Oh, Sung Yong; Kim, Ho Young; Kim, Hyo Song; Lee, Ha Young; Kim, Tae Min; Lim, Ho Yeong; Lee, Na Ri; Hong, Sook Hee; Rha, Sun Young

doi:10.4143/crt.2014.46.2.141

Cited by 17 publications

(16 citation statements)

References 16 publications

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“…Both RMCs and collecting duct carcinomas present an infiltrative pattern, are biologically aggressive, arise from the medulla, and are considered to derive from proliferating cells of the collecting duct epithelium, although collecting duct carcinoma is not associated with hemoglobinopathies (23,36,37). Therefore, it is often difficult to distinguish between these 2 types of tumors by using exclusively dynamic contrast-enhanced CT imaging.…”

Section: Discussionmentioning

confidence: 99%

Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases

et al. 2015

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Abstract. Patients with renal medullary carcinoma (RMC) have a poor prognosis, usually due to late diagnosis. Computed tomography (CT) analysis may aid the differentiation between RMC and other types of renal cell carcinoma, in order to establish an accurate early diagnosis. There is a limited number of reports in the literature focusing on clinical and multi-slice CT (MSCT) imaging findings of RMC. Consequently, the present study aimed to characterize the clinical and MSCT imaging features of RMC. For this purpose, the MSCT imaging findings of 6 patients with RMC were retrospectively studied. The patients were subjected to MSCT in order to investigate the characteristics of the tumors, including location, size, density, calcification, cystic or solid appearance, capsule sign, enhancement pattern and presence of retroperitoneal lymph node metastasis. The tumors in the current study presented a mean diameter of 7.48±3.25 cm, and were observed to be solitary and heterogeneous with necrotic components. The majority of the tumors did not contain calcifications (5/6); displayed an ill-defined margin (4/6); were centered in the medulla; extended into the renal pelvis or peripelvic tissues (6/6); and did not exhibit a fibrous capsule. Localized caliectasis was observed in 3 of the 6 cases. The attenuation of the solid region of the RMC on unenhanced CT was equal to that of the renal cortex or medulla (42.3±2.7 vs. 40.7±3.6 and 41.2±3.9 Hounsfield units, respectively; P>0.05) while, on enhanced CT, the enhancement of the tumor was lower than that of the normal renal cortex and medulla during all phases (cortical phase, 52.6±4.8 vs. l99.5±9.7 and 72.7±6.4; medullary phase, 58.6±5.7 vs. 184.6±10.8 and 93.5±7.8; delayed phase, 56.8±6.1 vs. 175.7±8.5 and 96.5±7.9, respectively; P<0.05).In conclusion, RMC tends to be an infiltrative, ill-defined heterogeneous mass with intratumoral necrosis, which arises from the renal medulla, and displays lower enhancement than the renal cortex and medulla during all phases on enhanced CT. Despite its rarity in adults, RMC should be included in a differential diagnosis when CT imaging reveals these features.

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Section: Discussionmentioning

confidence: 99%

Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases

et al. 2015

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“…Epidemiological characterization of CDC in North America has revealed a prevalence of CDC in the African American male population [ 6 , 4 ]. The systemic therapy offered to CDC patients is a cisplatin-based regimen, but the clinical benefit remains limited and the median survival is less than 12 months [ 4 , 7 , 8 ]. Treatment with targeted therapies, such as sunitinib, has also shown limited clinical benefit [ 9 – 11 ].…”

Section: Introductionmentioning

confidence: 99%

Collecting duct carcinoma of the kidney is associated withCDKN2Adeletion andSLCfamily gene up-regulation

et al. 2016

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The genetic landscape and molecular features of collecting duct carcinoma (CDC) of the kidney remain largely unknown. Herein, we performed whole exome sequencing (WES) and transcriptome sequencing (RNASeq) on 7 CDC samples (CDC1 −7). Among the 7 samples, 4 samples with matched non-tumor tissue were used for copy number analysis by SNP array data. No recurrent somatic SNVs were observed except for MLL, which was found to be mutated (p.V297I and p.F407C) in 2 samples. We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521. SNP array data identified a CDKN2A homozygous deletion in 3 samples and SNV analysis showed a non-sense mutation of the CDKN2A gene with unknown somatic status. To estimate the recurrent rate of CDKN2A abnormalities, we performed FISH screening of additional samples and confirmed the frequent loss (62.5%) of CDKN2A expression. Since cisplatin based therapy is the common treatment option for CDC, we investigated the expression of solute carrier (SLC) family transporters and found 45% alteration. In addition, SLC7A11 (cystine transporter, xCT), a cisplatin resistance associated gene, was found to be overexpressed in 4 out of 5 (80%) cases of CDC tumors tested, as compared to matched non-tumor tissue. In summary, our study provides a comprehensive genomic analysis of CDC and identifies potential pathways suitable for targeted therapies.

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“…Collecting duct carcinoma (CDC) is a rare subtype of renal cell carcinoma (RCC) that is thought to arise from the principal cells in the distal part of the collecting ducts 1 2 3 . CDC is often considered lethal because it presents in an advanced stage in up to 54% of cases 1 4 . Pathology continues to be the gold standard for CDC diagnosis 5 .…”

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confidence: 99%

“…In reports of the natural history of CDC, patients with metastatic spread at diagnosis accounted for ~25–50% of all patients, which highlights the aggressiveness of the disease 1 4 . However, those reports did not use central pathological reviews that included immunohistochemical staining of selected markers 1 4 .…”

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confidence: 99%

Unique Transcriptomic Profile of Collecting Duct Carcinomas Relative to Upper Tract Urothelial Carcinomas and other Kidney Carcinomas

Malouf

Compérat

Yao

et al. 2016

Sci Rep

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Collecting duct carcinoma (CDC) is a kidney cancer subtype that is thought to arise from principal cells in distal parts of the collecting ducts. Some studies suggested an overlap of CDC with upper tract urothelial carcinoma (UTUC), making the pathological diagnosis challenging. Herein, we performed for the first time transcriptome sequencing of CDC and compared them to UTUC and renal cell carcinoma subtypes. We discovered that CDC displays a unique transcriptomic signature among kidney cancer subtypes, with a putative cell of origin in the distal convoluted tubules. Hierarchical unsupervised clustering reveals that the CDC signature is closer to that of other RCC subtypes than to UTUC, which is similar to that of bladder carcinoma. CDC is characterized by a metabolic shift, with impairment of oxidoreductase activity, pyruvate metabolism and the tricarboxlyic acid cycle, as well as an immunogenic response consistent with increased tumor infiltrating lymphocytes, particularly within metastatic cases. In addition, pathways differentially altered between CDC and UTUC point to a basal-like phenotype of CDC in contrast to the luminal-like signature of UTUC. We conclude that CDC harbors a pathognomonic transcriptomic signature characterized by immunogenic and a metabolic aberrations, indicating that targeting these processes might provide therapeutic options for patients.

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Clinical Features and Treatment of Collecting Duct Carcinoma of the Kidney from the Korean Cancer Study Group Genitourinary and Gynecology Cancer Committee

Cited by 17 publications

References 16 publications

Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases

Clinical and computed tomography imaging features of renal medullary carcinoma: A report of six cases

Collecting duct carcinoma of the kidney is associated withCDKN2Adeletion andSLCfamily gene up-regulation

Unique Transcriptomic Profile of Collecting Duct Carcinomas Relative to Upper Tract Urothelial Carcinomas and other Kidney Carcinomas

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