Pediatric Renal Cell Carcinoma

Ramphal, Raveena; Pappo, Alberto S.; Zieleńska, Maria; Grant, Ronald; Ngan, Bo–Yee

doi:10.1309/98ye9e442ar7lx2x

Cited by 127 publications

(42 citation statements)

References 61 publications

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“…Some reports indicated that a proportion of Xp11.2 RCCs developed in patients who had a previous history of cytotoxic chemotherapy [18,19]. Indeed, our case had a history of AML and received myeloablative chemotherapy.…”

Section: Discussionmentioning

confidence: 75%

Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review

Kuwamoto¹,

Murai²,

Endo³

et al. 2014

Acta Cytologica

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Background: Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions are rare subtypes of renal neoplasm that predominantly occur in younger individuals. There are very few reports describing the cytologic features of these tumors. Case: A 27-year-old man presented with hematuria and was found to have a mass in the lower part of the right kidney. Cytology of catheterized urine obtained from the right renal pelvis showed clusters of cells with abundant clear or eosinophilic granular cytoplasm, large round nuclei and prominent nucleoli. Papillary clusters containing thin fibrous stroma were occasionally seen. Voided urine cytology showed similar cell clusters but degeneration made the features obscure. Nephroureterectomy revealed a renal tumor showing a mixed papillary and nested architecture. The diagnosis was confirmed by immunohistochemistry and fluorescence in situ hybridization. Conclusion: The present case indicates that the characteristic features of these tumor subtypes can be retained in urine cytology. Cytology may be enough to suspect these tumors as part of the differential diagnosis when the patient's age and imaging findings are taken into account and may facilitate further studies for a definitive diagnosis.

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Section: Discussionmentioning

confidence: 75%

Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review

Kuwamoto¹,

Murai²,

Endo³

et al. 2014

Acta Cytologica

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“…According to the literature, isolated masses with small diameters (<7 cm) and well-defined boundaries are regarded as appropriate candidates for NSS [17, 20, 27, 28], which is based on the finding that tumors with small diameters and clear rims predicate positive prognosis. From our statistical outcomes, both small diameters (<7 cm) and clear boundaries were protective factors for prognosis.…”

Section: Discussionmentioning

confidence: 99%

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusions: Clinical Features, Treatments and Prognosis

et al. 2016

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To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18–45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis.

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“…Interestingly, APE-1 has been shown to interact with cAMP response element-binding protein and activate Hif1α and its own expression. All of these proteins form a transcription activation complex to activate VEGF under hypoxia conditions (Ramphal et al ., 2006). cAMP response element-binding protein binds p300 or CBP to modify chromatin structure for transcription activation (Rouaux et al ., 2004).…”

Section: Discussionmentioning

confidence: 99%

MiTF Regulates Cellular Response to Reactive Oxygen Species through Transcriptional Regulation of APE-1/Ref-1

Liu

Meyskens

2009

Journal of Investigative Dermatology

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Microphthalmia-associated transcription factor (MiTF) is a key transcription factor for melanocyte lineage survival. Most previous work on this gene has been focused on its role in development. A role in carcinogenesis has emerged recently, but the mechanism is unclear. We classified melanoma cells into MiTF-positive and -negative groups and explored the function of MiTF in regulating cellular responses to reactive oxygen species (ROS). The MiTF-positive melanoma cell lines accumulated high levels of apurinic/apyrimidinic endonuclease (APE-1/Ref-1, redox effector-1), a key redox sensor and DNA endonuclease critical for oxidative DNA damage repair. We demonstrate that APE-1 is a transcriptional target for MiTF. Knocking down MiTF led to reduced APE-1 protein accumulation, as well as abolished induction of APE-1 by ROS. MiTF-negative melanoma cells survived more poorly under ROS stress than the MiTF-positive cells based on 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay and Trypan blue staining. Overexpression of APE-1 partially rescued ROS-induced cell death when MiTF was depleted. We conclude that MiTF regulates cellular response to ROS by regulation of APE-1, and this may provide a mechanism of how MiTF is involved in melanoma carcinogenesis.

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Pediatric Renal Cell Carcinoma

Cited by 127 publications

References 61 publications

Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review

Cytologic Features of Renal Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions: A Case Report with Voided and Catheterized Urine Cytology and a Literature Review

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusions: Clinical Features, Treatments and Prognosis

MiTF Regulates Cellular Response to Reactive Oxygen Species through Transcriptional Regulation of APE-1/Ref-1

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