Kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion

Salles, Paulo Guilherme de Oliveira; Soto, M.

doi:10.1590/s1677-55382005000300009

Cited by 15 publications

(12 citation statements)

References 3 publications

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“…In our study, the age of the patients ranged from 13 to 46 years (67% were younger than 30 years old), which demonstrated a greater average age than that in some reports (median age 13 years) [26], [27] while consistent with that in others [5], [8], [28]. Thus, the presence of RCC in a child or young adult should increase the level of suspicion for Xp11.2 translocation RCC.…”

Section: Discussionsupporting

confidence: 84%

“…These tumors are defined by several different translocations in chromosome Xp11.2, resulting in gene fusions in the TFE3 gene. Although some cases have been reported in older patients, Xp11.2/TFE RCC primarily affects children and young adults, and this condition is more common in women than men [1]–[5]. Although Xp11.2 translocation RCCs are less common among adult RCCs than pediatric RCCs, adult Xp11.2 translocation RCCs still out-number pediatric cases [6].…”

Section: Introductionmentioning

confidence: 99%

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Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

Wang

Ding

et al. 2014

PLoS ONE

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PurposeTo characterize Xp11.2 translocation renal cell carcinoma (RCC) using magnetic resonance imaging (MRI) and computed tomography (CT).MethodsThis study retrospectively collected the MRI and CT data of twelve patients with Xp11.2 translocation RCC confirmed by pathology. Nine cases underwent dynamic contrast-enhanced MRI (DCE-MRI) and 6 cases underwent CT, of which 3 cases underwent MRI and CT simultaneously. The MRI and CT findings were analyzed in regard to tumor position, size, hemorrhagic, cystic or necrotic components, calcification, tumor density, signal intensity and enhancement features.ResultsThe age of the 12 patients ranged from 13 to 46 years (mean age: 23 years). T2WI revealed heterogeneous intensity, hyper-intensity, and slight hypo-intensity in 6 cases, 2 cases, and 1 case, respectively. On DCE-MR images, mild, moderate, and marked rim enhancement of the tumor in the corticomedullary phase (CMP) were observed in 1, 6, and 2 cases, respectively. The tumor parenchyma showed iso-attenuation (n = 4) or slight hyper-attenuation (n = 1) compared to the normal renal cortex on non-contrast CT images. Imaging findings were suggestive of hemorrhage (n = 4) or necrosis (n = 8) in the tumors, and there was evidence of calcification in 8 cases by CT (n = 3) and pathology (n = 8). On dynamic contrast-enhanced CT images, 3 cases and 1 case manifested moderate and strong CMP enhancement, respectively. Nine tumors by MRI and 4 tumors by CT showed prolonged enhancement. Three neoplasms presented at stage I, 2 at stage II, 3 at stage III, and 4 at stage IV according the 2010 AJCC staging criteria.ConclusionsXP11.2 translocation RCC should be considered when a child or young adult patient presents with a renal tumor with heterogeneous features such as hemorrhage, necrosis, cystic changes, and calcification on CT and MRI and/or is accompanied by metastatic evidence.

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Section: Discussionsupporting

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

Wang

Ding

et al. 2014

PLoS ONE

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“…To the best of our knowledge only sporadic cases have been registered in patients aged over 50 years. In the literature we have found only individual cases and as far as we know less than 6 subjects [2,6,8] with our 79-year-old man being the oldest ever to be reported. Histopathologically they showed a papillary carcinoma composed of clear cells.…”

Section: Discussionmentioning

confidence: 99%

“…Apparently there is no difference in gender distribution. ASPL-TFE3 carcinomas were described in a patient younger than 18 years, in a 53-year-old woman [6] and in a 68-year-old case [details in 7 ]. The age ranges reported are respectively 2-70, 3-68, 39 and 14 years for PRCC, PSF, NonO and CLTC-TFE3 renal cancer [7] .…”

Section: Discussionmentioning

confidence: 99%

A Case of Renal Cancer with Tfe3 Gene Fusion in an Elderly Man

Franzini¹,

Picozzi²,

Politi³

et al. 2007

Urol Int

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Sporadic cases of a particular group of renal cancers associated with a translocation involving Xp11.2, known as the TFE3 transcription factor gene, have been reported in the last 20 years. The group was also classified in 2004 WHO kidney carcinoma classifications. A 79-year-old male patient was investigated at the outpatient department for gross intermittent hematuria. Sonography showed a spherical left kidney with increased total size, without evidence of the corticomedullary differentiation due to parenchymal dyshomogeneity with a neoplasm aspect. CT confirmed the sonographic left kidney findings and showed gross node involvement. Angiography did not show any pathological arterial circulation, but massive thrombotic involvement of the renal vein was evident. Radical nephrectomy with thrombectomy and staging lymphectomy were performed. At pathological examination the kidney parenchyma was completely substituted by white firm tissue. Microscopically the tumor was composed of papillary structures lined by epithelial cells with a clear cytoplasm. Multiple node metastases were found. Immunohistochemical examination showed negativity for epithelial markers (cytokeratin and epithelial membrane antigen) and reactivity for CD10 and TFE3. The genetic and histological aspects of this rare tumor are reported. In addition, we describe clinical, radiological and surgical findings.

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“…5 In particular, it has been reported as a RCC occurring preferentially in children and young adults. 6 In recent reports the following 5 genes serving as fu- [8][9][10][11][12][13] Although the complete clinical features have yet to be clarified, some investigators have suggested that the proportion of female patients is higher compared to that in conventional RCC. Additionally, compared to pediatric cases, the clinical stage tends to be more advanced and the clinical behavior may pursue a less favorable course.…”

Section: Discussionmentioning

confidence: 99%

Imprint Cytologic Features in Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in an Adult

et al. 2009

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Kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion

Cited by 15 publications

References 3 publications

Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

A Case of Renal Cancer with Tfe3 Gene Fusion in an Elderly Man

Imprint Cytologic Features in Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion in an Adult

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