Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Song, Hong Cheng; Sun, Ning; Zhang, Wei Ping; He, Lejian; Fu, Libing; Chengru, Huang

doi:10.1016/j.jpedsurg.2013.10.005

Cited by 26 publications

(32 citation statements)

References 15 publications

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“…A series of patients diagnosed with Xp11.2 RCC by TFE3 IHC staining had been reported previously, with the sample size between five and 22 cases [7][8][9]11]. Xp11.2 RCC are rare tumors that are reported predominantly in children and young adults, associated with an advanced stage at presentation [7].…”

Section: Resultsmentioning

confidence: 99%

“…Xp11.2 RCC are rare tumors that are reported predominantly in children and young adults, associated with an advanced stage at presentation [7]. Patients with N + M0 maintained a favorable prognosis following surgery alone [7,8]. However, the adult patients followed an aggressive clinical course [9].…”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Numerous reports have shown that the overall incidence of Xp11.2 RCC is low [2][3][4][5] and predominantly occurs in children and adults younger than 40 years, accounting for about a third of pediatric RCCs [6]. Due to the relatively low incidence, clinicopathological characteristics and outcomes of this new entity remain poorly understood [7,8].Due to the considerable overlap in morphology between Xp11.2 RCC and other subtypes of RCC, it is not infrequent that Xp11.2 RCCs are overlooked and misdiagnosed [9]. Since the translocations lead to overexpression of the TFE3 protein, immunohistochemical staining for TFE3 is widely used as a surrogate marker for the Xp11.2 RCC, which has shown to be highly sensitive (97.5%) and specific (99.6%) [10].…”

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confidence: 99%

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Renal Cell Carcinoma Associated with Xp11.2 Translocation/ TFE3 gene fusions: clinical experience and literature review

Chen

Gan

et al. 2015

Future Oncol.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Renal Cell Carcinoma Associated with Xp11.2 Translocation/ TFE3 gene fusions: clinical experience and literature review

Chen

Gan

et al. 2015

Future Oncol.

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“…For localized Xp11.2 RCC with positive regional lymph nodes, surgery is the optimal treatment (18). If the tumor is sized <7 cm, nephron-sparing surgery is considered as a treatment option (19). Immunotherapy may be beneficial for patients who have hematogenous metastases, including multikinase inhibitors, interleukin-2 and interferon-α.…”

Section: Discussionmentioning

confidence: 99%

Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report

et al. 2017

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Abstract. Xp11.2 translocation renal cell carcinoma (RCC) with transcription factor E3 (TFE3) gene fusion is a rare tumor, and the prognosis of this tumor is poorer compared with that of other subtypes of RCC. The patient presented herein was a 70-year-old man who presented with a solid mass sized ~8.2x6.1 cm in the right kidney and underwent radical right nephrectomy. Following pathological and immunohistochemical (IHC) examination and fluorescent in situ hybridization (FISH), the patient was diagnosed with Xp11.2 translocation RCC with TFE3 gene fusion. These tumors are more commonly encountered in children rather than in adults, and adult Xp11.2 translocation RCC is associated with a poorer prognosis compared with its pediatric counterpart. IHC assay and FISH are important diagnostic methods. However, there is currently no established effective treatment for Xp11.2 RCC. IntroductionThe most common type of kidney cancer is renal cell carcinoma (RCC), constituting ~85% of malignant renal tumors and 3-6% of all adult malignancies (1). RCC is a heterogeneous malignancy, the most common histological subtypes being clear-cell (60-75%), papillary (10-15%), chromophobe (5%), and collecting duct carcinoma, each of which are associated with specific histopathological and genetic characteristics. In the 2004 World Health Organization renal tumor classification, the Xp11.2 translocation RCC with TFE3 gene fusion is described as a distinct entity (2). Furthermore, Xp11.2 translocation RCCs have been reported as being more aggressive and having a poorer prognosis compared with other subtypes of RCC (3). In addition, Xp11.2 translocation RCCs are generally considered a pediatric cancer, accounting for 20-40% of pediatric RCCs and only 1-1.6% of adult RCCs (4,5). In addition, adult Xp11.2 translocation RCC has a poorer prognosis compared with its pediatric counterpart (6). This type of RCC is generally characterized by a range of translocations on chromosome Xp11.2 leading to a gene fusion between TFE3 and at least 6 possible partners (7). The diagnosis of Xp11.2 translocation RCC is based on fluorescent in situ hybridization (FISH) rather than histological characteristics and imaging examination (8). The majority of patients with Xp11.2 translocation RCC present at a more advanced stage compared with conventional RCC (9). Surgical resection is considered as the most effective method for the treatment of Xp11.2 translocation RCC.We herein report a rare case involving an elderly patient with Xp11.2 translocation RCC with TFE3 gene fusion, and review the relevant literature. Case reportA 70-year-old man was diagnosed with a solid mass in the right kidney during a routine health examination and consulted a doctor at the Department of Urology, Peking University Shenzhen Hospital (Shenzhen, China) on June 9, 2015. The patient was healthy prior to the discovery of the tumor, and he had no surgical history, no family history of cancer, and no history of smoking or drinking. The routine blood tests were normal. A computed tomography...

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Les carcinomes du rein à translocation de la famille MiT : histoire naturelle, caractéristiques moléculaire et prise en charge multidisciplinaire

et al. 2020

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Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Cited by 26 publications

References 15 publications

Renal Cell Carcinoma Associated with Xp11.2 Translocation/ TFE3 gene fusions: clinical experience and literature review

Renal Cell Carcinoma Associated with Xp11.2 Translocation/ TFE3 gene fusions: clinical experience and literature review

Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report

Les carcinomes du rein à translocation de la famille MiT : histoire naturelle, caractéristiques moléculaire et prise en charge multidisciplinaire

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