Abstract
Seven percent of renal cell carcinoma (RCC) cases are diagnosed as "unclassified" RCC by morphology. Genetic profiling of RCCs helps define renal tumor subtypes, especially in cases where morphologic diagnosis is inconclusive. This report describes a patient with synchronous clear cell RCC (ccRCC) and a tubulocystic renal carcinoma (TCRC) in the same kidney, and discusses the pathologic features and genetic profile of both tumors. A 67 year-old male underwent CT scans for an unrelated medical event. Two incidental renal lesions were found and ultimately removed by radical nephrectomy. The smaller lesion had multiple small cystic spaces lined by hobnail cells with high nuclear grade separated by fibrous stroma. This morphology and the expression of proximal (CD10, AMACR) and distal tubule cell (CK19) markers by immunohistochemistry supported the diagnosis of TCRC. The larger lesion was a typical ccRCC, with Fuhrman's nuclear grade 3 and confined to the kidney. Molecular characterization of both neoplasms using virtual karyotyping was performed to assess relatedness of these tumors. Low grade areas (Fuhrman grade 2) of the ccRCC showed loss of 3p and gains in chromosomes 5 and 7, whereas oncocytic areas displayed additional gain of 2p and loss of 10q; the high grade areas (Fuhrman grade 3) showed several additional imbalances. In contrast, the TCRC demonstrated a distinct profile with gains of chromosomes 8 and 17 and loss of 9. In conclusion, ccRCC and TCRC show distinct genomic copy number profiles and chromosomal imbalances in TCRC might be implicated in the pathogenesis of this tumor. Second, the presence of a ccRCC with varying degrees of differentiation exemplifies the sequence of chromosomal imbalances acquired during tumor progression.Virtual SlidesThe virtual slide(s) for this article can be found here:http://www.diagnosticpathology.diagnomx.eu/vs/1790525735655283
Highlights
Kidney cancer is among the ten most common causes of cancer-related death in adults [1]
We report a case of two synchronous non-related tumors, a tubulocystic renal carcinoma (TCRC) and a clear cell RCC (ccRCC) occurring in the same kidney with molecular characterization of both neoplasms
TCRC was originally described by Masson who named it “Bellinian epithelioma” or “carcinoma of the collecting ducts” as he believed it originated from collecting ducts of Bellini [9]
Summary
Kidney cancer is among the ten most common causes of cancer-related death in adults [1]. * Correspondence: AAyala@tmhs.org † Contributed 1Department of Pathology and Genomic Medicine, The Methodist Hospital, Houston, Texas 77030, USA Full list of author information is available at the end of the article and clear cell RCC (ccRCC) accounts for most of these cases (80%). We describe the clinico-pathological features of a patient presenting with synchronous ccRCC and a TCRC and the molecular profiles of these tumors utilizing virtual karyotyping.
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