Bilateral Xp11.2 translocation renal cell carcinoma: a case report

Abstract

BackgroundXp11.2 translocation renal cell carcinoma (RCC) is a rare variety of a kidney neoplasm. We report a case of bilateral Xp11.2 translocation RCC occurring metachronously and discuss this very rare entity with reference to the literature.Case presentationThe patient was a 56-year-old woman who presented with a right renal tumor. The patient had undergone left radical nephrectomy 7 years previously, which resulted in a histopathological diagnosis of clear cell RCC. Open right partial nephrectomy was performed under the presumptive diagnosis of recurrence of clear cell RCC. The present right renal tumor was pathologically diagnosed Xp11.2 translocation RCC. More than 70% of the tumor cells in the present right tumor were strongly positive for transcription factor E3 (TFE3) expression by immunohistochemical analysis with an anti-TFE3 antibody. A break-apart of the TFE3 genes in the bilateral tumors was identified by fluorescence in situ hybridization analysis. Real time-polymerase chain reaction analysis for the alveolar soft part sarcoma locus-TFE3 fusion gene was performed, which gave a positive result in the bilateral tumors. Pathological comparison of each of the tumors might lead to a final diagnosis of Xp11.2 translocation RCC occurring metachronously.ConclusionsWe present the bilateral Xp11.2 translocation RCC. A combination of immunohistochemical, cytogenetic and molecular biological approaches allowed the final diagnosis of such a rare RCC.

Single-Cell RNA-seq Identification of the Cellular Molecular Characteristics of Sporadic Bilateral Clear Cell Renal Cell Carcinoma

“…A case of sporadic bilateral ccRCC was studied by single-cell transcriptome sequencing. Compared with many previous works on bilateral RCC (33)(34)(35) the present study firstly examined the tumour cellular biological characteristics of bilateral ccRCC at the single-cell level. Although large samples of DNA, bulk RNA and DNA methylation in ccRCC have been reported (29,30) these results only revealed the characteristics of RCC from an average level; specifying these attributes to cell types, especially tumour cells, is difficult.…”

Factors Associated with Survival From Xp11.2 Translocation Renal Cell Carcinoma Diagnosis—A Systematic Review and Pooled Analysis

“…After the screen of abstracts, 152 articles were considered to be relevant reports. After reviewing these articles, we found 80 that reported histopathologically confirmed Xp11.2 tRCC and fulfilled the inclusion criteria (Figure 1), giving a total of 415 patients [2], [8][9][10], [11][12][13][14][15][16][17][18][19][20], [21][22][23][24][25][26][27][28][29][30], [31][32][33][34][35][36][37][38][39][40], [41][42][43][44][45][46][47][48][49][50], [51][52][53][54][55]…”

Unravelling the mysteries of Xp11.2 translocation‐associated renal cell carcinoma: A case report with a review of the literature

“…Haematuria and abdominal pain are the most common presenting features 8,9 . Xp11.2 TRCC is usually unilateral and unifocal but rarely can present as bilateral renal masses 5,15 . The median age of presentation is 27 years, with a higher incidence in females 5,7,14,16 .…”

“…8,9 Xp11.2 TRCC is usually unilateral and unifocal but rarely can present as bilateral renal masses. 5,15 The median age of presentation is 27 years, with a higher incidence in females. 5,7,14,16 Most Xp11.2 TRCC cases are detected in the early stages; however, some patients may have metastasis at presentation.…”