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 ◽  
...  

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.

2003 ◽  
Vol 127 (1) ◽  
pp. e38-e40 ◽  
Author(s):  
Yun Gong ◽  
Xiaoping Sun ◽  
G. Kenneth Haines ◽  
Michael R. Pins

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.


Author(s):  
Ferdinant Martinus Djawa ◽  
Anny Setijo Rahaju

ABSTRACTCollecting duct carcinoma is a rare and highly aggressive subtype of renal cell carcinoma. The incidence rate is less than 1-2% of all renal tumors and usually, affect middle-aged adult, commonly in men. We reported a 76-year-old man complains of an intermittent painless gross hematuria, abdominal mass and left flank pain for approximately three months. The CT abdomen showed a slightly enhancing solid mass in the left kidney and para-aorta lymphadenopathy. Cut surfaces of the kidney showed a solid-cystic and ill-defined greyish-white tumor. Microscopically, tumor formed solid sheets and tubulopapillary structures lined by neoplastic cells, hobnailing nuclei, abnormal mitotic, and a desmoplastic stroma with lymphoplasmacytic infiltration, and the immunochemical profile were PAX8 (+) /p63 (-). Based on these findings, the diagnosis was a collecting duct carcinoma. This tumor arising from the collecting duct of Bellini in the renal medulla, accounts for less than 1-2% of all renal masses and important to be distinguished from other tumors due to differences in prognosis and therapeutic. Histopathological examination is needed to establish the diagnosis. A case of collecting duct carcinoma that occurred in a 76-year-old man has been reported. A definitive diagnosis can only be done with a detailed histopathological examination for patient management benefits.Keywords          : renal cell carcinoma, collecting duct carcinoma, urothelial carcinoma, PAX8, p63


Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 602 ◽  
Author(s):  
Moonsik Kim ◽  
Jin Woo Joo ◽  
Seok Joo Lee ◽  
Yoon Ah Cho ◽  
Cheol Keun Park ◽  
...  

In recent years, renal epithelial tumors have been among the fastest reclassifying tumors, requiring updates to the tumor classification system. Nonetheless, immunohistochemistry (IHC) remains the most widely used tool for renal epithelial tumors. In this proposal, we aimed to create the most efficient IHC panel for categorizing the diverse subtypes of renal tumors, and to find out more specific immunohistochemical results in each subtype or each antibody. A total of 214 renal tumors were analyzed using 10 possible IHC markers to differentiate subtypes, including three major renal cell carcinoma (RCC) subtypes, clear-cell type (50 cases), papillary type (50 cases), and chromophobe type (20 cases), and minor subtypes (MiT RCC, 13 cases; collecting duct carcinoma, 5 cases; and oncocytoma, 10 cases). A triple immunomarker (cytokeratin 7 (CK7)-carbonic anhydrase IX (CAIX)- alpha-methylacyl-CoA racemase (AMACR)) panel is useful in particular high-grade clear-cell tumors. If IHC remains ambiguous, the use of an adjunctive panel can be suggested, including CD10, epithelial membrane antigen, cathepsin K, c-kit, hepatocyte nuclear factor 1-β, and E-cadherin. For an efficient immunohistochemical strategy for subtyping of RCC, we conclude that the CK7-CAIX-AMACR panel is the best primary choice for screening subtyping.


Author(s):  
Nicholas Baniak ◽  
Harrison Tsai ◽  
Michelle S. Hirsch

Context.— Renal malignancies can be divided into cortical- and medullary-based tumors, the latter of which classically infiltrate the renal parenchyma by extending between nonneoplastic structures. Although high-grade cortical tumors can rarely exhibit the same growth pattern, the infiltrative morphology should elicit a differential diagnosis to be considered in each case. However, these diagnoses can be challenging to distinguish, especially on small renal biopsy samples. Objective.— To provide an overview of the clinical, gross, and microscopic findings; genetic and molecular alterations; and immunohistochemical evaluation of medullary-based renal tumors and other tumor types with overlapping morphologies and growth patterns. Data Sources.— Literature review and personal observations were used to compile the information in this review. Conclusions.— Collecting duct carcinoma is a prototypical medullary-based tumor, and although diagnostic criteria exist, it remains a diagnosis of exclusion, especially with ancillary techniques aiding the recognition of established as well as more recently described neoplasms. Other medullary-based malignancies included in the differential diagnosis include renal medullary carcinoma/renal cell carcinoma unclassified with medullary phenotype, fumarate hydratase–deficient renal cell carcinoma, and upper tract urothelial carcinoma. Moreover, other rare entities should be excluded, including metastatic carcinoma, lymphoma, and melanoma. In addition to potential prognostic differences, accurate diagnoses can have important surgical and clinical management implications.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qingqiang Zhu ◽  
Jun Ling ◽  
Jing Ye ◽  
Wenrong Zhu ◽  
Jingtao Wu ◽  
...  

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.


2017 ◽  
Vol 24 (10) ◽  
pp. 1226-1232 ◽  
Author(s):  
Jonathan R. Young ◽  
Jocelyn A. Young ◽  
Daniel J.A. Margolis ◽  
Steven Sauk ◽  
James Sayre ◽  
...  

1999 ◽  
Vol 123 (7) ◽  
pp. 638-641 ◽  
Author(s):  
Joseph W. Olivere ◽  
Stephen J. Cina ◽  
Pawan Rastogi ◽  
Jae Y. Ro

Abstract Collecting duct carcinoma (CDC) is an aggressive primary renal neoplasm that represents a distinct subtype of renal cell carcinoma. Histochemical (eg, mucicarmine) and immunohistochemical (eg, Ulex europaeus) studies, taken in concert with the gross and histologic findings, allow differentiation of CDC from the conventional varieties of renal cell carcinoma in most cases. Collecting duct carcinoma generally pursues a more aggressive course than conventional renal cell carcinoma. Metastases to regional lymph nodes, bone, adrenal glands, lung, and skin have been reported in CDC. We describe the case of a 26-year-old man who presented with a clinical and radiologic impression of multifocal meningioma. Biopsies of the meninges and extracranial soft tissues revealed metastatic adenocarcinoma; subsequent studies suggested metastatic CDC. Ultrasound-guided biopsy was performed on a subsequently identified renal mass, which showed features consistent with CDC. To our knowledge, this is the first reported case of meningeal carcinomatosis due to CDC. The diagnostic features of this tumor are discussed.


2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 501-501 ◽  
Author(s):  
Thai Huu Ho ◽  
Sherri Z. Millis ◽  
Nancy Doll ◽  
Zoran Gatalica ◽  
Sandeep K. Reddy ◽  
...  

501 Background: Predictive biomarkers of response to targeted therapy are lacking in renal cell carcinoma (RCC). We evaluated a cohort of RCC patients referred for molecular profiling to identify potentially actionable recurrent molecular aberrations. Methods: 166 consecutive renal cases referred to Caris Life Sciences over 2 yrs were evaluated with central pathology review. Cases were subtyped into clear cell (ccRCC), n=100, papillary (PRCC), n=20, sarcomatoid, n=10, translocation, n=6, medullary, n=4 or unclassified, n=26. 63% of cases were metastatic. Testing included a combination of sequencing (Sanger or next generation sequencing [NGS]), protein expression (immunohistochemistry [IHC]), and/or gene amplification (CISH or FISH). Results: ccRCC had a 52% loss of PTEN, while PRCC had a 21% loss (p value=0.02). 100% of ccRCC with sarcomatoid features (4) showed aberrant expression of PD-L1 and were infiltrated with PD-1+ tumor infiltrating lymphocytes; 100% of 10 non-ccRCC sarcomatoids also had aberrant expression of PD-L1. Loss of PBRM1 expression was observed in 60% of ccRCC. Loss of histone 3 lysine 36 trimethylation (H3K36me3), which is associated with SETD2 mutations, was observed in 30% of ccRCC. TOP2A was overexpressed in ccRCC at 30% and in non-ccRCC at 50%. 100% of ccRCC and PRCC overexpressed EGFR; a single unclassified renal cell carcinoma did not overexpress EGFR. 50% of cases had cMET overexpression, amplification, or mutation. HER2 was not amplified or overexpressed in any RCC; a single rare HER2 mutation (R816H) was found in a collecting duct carcinoma. VHL mutations were identified in 50% of ccRCC tumors. We observed lower rates of TP53 (14%), ATM (6%), and PIK3CA(4% ccRCC, 7% PRCC) mutations compared to other cancers. Conclusions: Multiplatform molecular profiling of renal cell carcinoma identifies potential predictive biomarkers in ccRCC. The documented activity of everolimus in ccRCC (RECORD-1 trial) may be attributable to PIK3CA pathway alterations. RCC with sarcomatoid features may respond to PD1/PD-L1 targeted immunotherapies. The impact of molecular profiling in ccRCC to predict responses to currently available targeted therapy has important implications for trial design and patient selection.


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