Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature

Ahluwalia, P. K.; Nair, Balagopal; Kumar, Ginil

doi:10.1155/2013/810590

Cited by 21 publications

(29 citation statements)

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“…Pathologists should take into account the possibility that Xp11. [1,18,20,22,23,24,25,26,27,28,29,30]. However, in the present study most patients were males, as reported in previous studies [21,31,32,33].…”

Section: Discussionsupporting

confidence: 68%

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The incidence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene 376fusion in Saudi adult patients with renal cancer: a retrospective tissue microarray analysis

Al-Maghrabi¹,

Mufti²,

Gomaa³

2018

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Section: Discussionsupporting

confidence: 68%

“…In 30% of tumours, patients present with metastasis. The prognosis of patients with RCC varies according to the stage and histological grade [1]. In Saudi Arabia, renal tumours constitute 3.6% of all tumours in males and 2.2% in females.…”

Section: Introductionmentioning

confidence: 99%

The incidence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene 376fusion in Saudi adult patients with renal cancer: a retrospective tissue microarray analysis

Al-Maghrabi¹,

Mufti²,

Gomaa³

2018

pjp

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“…The most common treatment of Xp11.2 RCC is similar to that for conventional RCC. 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).…”

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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“…Surgery is the optimal treatment for localized Xp11.2 RCC patients, including those with positive regional lymph nodes 7 . However, previous studies indicate that Xp11.2 RCC presents at an advanced stage with a rapid clinical course 8,9 .…”

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confidence: 99%

PD-L1 expression in Xp11.2 translocation renal cell carcinoma: Indicator of tumor aggressiveness

Qu¹,

Chang²,

Dai³

et al. 2017

European Urology Supplements

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Programmed death ligand-1 (PD-L1), a promising antitumor target, has proven clinical value against many malignancies. However, the PD-L1 content of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) and its correlation with clinical outcomes remain unclear. This study aimed to investigate PD-L1 expression in Xp11.2 RCC and to assess its prognostic value. Formalin-fixed paraffin-embedded specimens from 36 adult patients that were histologically confirmed (by fluorescence in situ hybridization) were subjected to immunohistochemical analysis. Of the 36 Xp11.2 RCC patients, 9 (25.0%) had tumors with positive PD-L1 expression and 27 (75.0%) had tumors with negative PD-L1 expression. Positive PD-L1 expression correlated with advanced tumor stage (P = 0.001), regional lymph node metastasis (P < 0.001), and distant metastasis (P < 0.001). A multivariate analysis identified positive PD-L1 expression was an independent adverse prognostic factor for both progression free survival (hazard ratio: 3.7, P = 0.018) and overall survival (hazard ratio: 4.5, P = 0.034). Renal cell carcinoma (RCC) is widely recognized as a heterogeneous disease with various histological subtypes. The most common histopathological subtypes are clear cell (60%-75%), papillary (10%-15%), chromophobe (5%), and collecting duct carcinomas 1 . Xp11.2 translocation RCC (Xp11.2 RCC) is a rare subtype that was recognized as a distinctive pathological entity in the 2004 World Health Organization renal tumor classification 2, 3 . Xp11.2 RCC is characterized by several translocations on chromosome Xp11.2, resulting in gene fusion between TFE3 and at least six possible partners [4][5][6] .As it is a rare RCC subtype, the best treatment for Xp11.2 RCC has not been defined. Surgery is the optimal treatment for localized Xp11.2 RCC patients, including those with positive regional lymph nodes 7 . However, previous studies indicate that Xp11.2 RCC presents at an advanced stage with a rapid clinical course 8,9 . As a result, systematic treatment may be indispensable for most patients. Anti-VEGF drugs are reported to have activity against metastatic Xp11.2 RCC 10, 11 . However, Xp11.2 RCC has poor prognosis regardless of treatment 12,13 . Therefore, new, effective treatments are desperately needed for patients with this tumor type.Monoclonal antibodies (mAbs) targeting the programmed death 1 (PD1)/programmed death ligand-1 (PD-L1) pathway have achieved impressive response rates in patients with melanoma, non-small cell lung cancer, and bladder cancer, and PD-L1 has been validated as a predictive biomarker for the outcome of mAb therapy in many studies [14][15][16] . However, its prognostic and clinical value in patients with Xp11.2 RCC subtypes is unknown. In this study, we sought to investigate the levels of PD-L1 expression and its correlation with clinical outcome in a series of patients with Xp11.2 RCC that was histologically confirmed using TFE3 break-apart fluorescence in situ hybridization (FISH).

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Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature

Cited by 21 publications

References 4 publications

The incidence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene 376fusion in Saudi adult patients with renal cancer: a retrospective tissue microarray analysis

The incidence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene 376fusion in Saudi adult patients with renal cancer: a retrospective tissue microarray analysis

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

PD-L1 expression in Xp11.2 translocation renal cell carcinoma: Indicator of tumor aggressiveness

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