Clinicopathologic Features of Translocation Renal Cell Carcinoma

Ellati, Riyad T.; Abukhiran, Ibrahim; Alqasem, Kholoud; Jasser, Judy; Khzouz, Juakub; Bisharat, Tamer; Al-Saidi, Ibrahim; Al-Daghmin, Ali

doi:10.1016/j.clgc.2016.05.013

Cited by 15 publications

(15 citation statements)

References 32 publications

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“…[3] Ellati et al first concluded it as a rare tumor. [4] If we do the calculation, this TFE3 RCC occurs in only 1-1.6% of the adult patient, whereas it occurs 20-40% in children and young patients with total renal cell carcinoma. [5] Argani et al reported, XP11.2 renal cell carcinoma usually occurred from TFE3 gene fusion with one of five different genes, which includes ASPL (17q25), PRCC (1q21), PSF (1q34), NonO (Xq12), and CLTC (17q23).…”

Section: Discussionmentioning

confidence: 99%

A Rare Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Case Report of 8 Cases and Review of the Literature

Hossain¹,

Bashanti²,

Dong³

et al. 2021

IJCU

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XP11.2 translocation TFE3 gene fusion renal cell carcinoma (RCC) is enlisted as a rare subtype of RCC by WHO in 2004. This type of Tumor was previously considered a pediatric tumor predominantly but is now invariably found in adult and older patients. The article investigates the clinical manifestation, pathological features, diagnosis criteria, and treatment of this rare subtype of RCC. We collected the clinical data of eight patients confirmed as XP11.2 TFE3 RCC admitted in the First affiliated hospital of Chongqing Medical University from August 2015 to November 2018, and a retrospective analysis of these data was conducted. There were three male, five female patients, the average age of 33.25 years old, ranging from 5 years old to 62. Six patients were asymptomatic and diagnosed incidentally, one of them complained of hematuria and back pain for three months, and another patient complained just back pain for four months. After hospital admission, transabdominal ultrasonography, CT scan, and MRI imaging were done on all the patients. The tumor sizes of 2 patients were more than 7cm; 3 patients were 5-6 cm, and the rest three patients were below 4cm. One Patient got an Open Radical Nephrectomy for the right kidney and Right Ureterectomy. Four patients went through a Radical nephrectomy, and partial nephrectomies were done in the rest three patients. All the removed tumor samples were analyzed using pathology and immunohistochemistry assays. The results showed that all samples had renal carcinoma cells, with positive CD10 and TFE3 staining. Other parameters varied from each other. One postoperative Patient got both chemotherapies and targeted therapy; 3 patients were treated with Interferon but changed to thymopentin due to adverse effects. Only one Patient got thymopentin, and the rest three patients did not need any adjuvant therapy. Follow-up was done on all patients from 6 months to 40 months. Except for one patient who died of lung metastasis at 16 months after surgery, no disease progression occurred in those patients. The imaging findings are atypical, constantly varying among different patients with various tumor morphologies. So far, the golden standard of diagnosis is postoperative pathology and immune histochemistry. Radical or partial nephrectomy combining with renal lymph node clearance should be performed if metastasis of lymph nodes occurs. Proper adjuvant therapy, including chemotherapies, targeted therapy, and immune therapy, should be applied when needed. To maintain a risk-free life, follow-up must be done every 3 to 6 months.

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Section: Discussionmentioning

confidence: 99%

A Rare Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Case Report of 8 Cases and Review of the Literature

Hossain¹,

Bashanti²,

Dong³

et al. 2021

IJCU

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“…Es fundamental establecer que los subtipos del CRT Xp11 y t (6; 11) son causados por reordenamientos en los genes de los factores de transcripción TFE3 y TFEB, respectivamente (3,4) .…”

Section: Discussionunclassified

Carcinoma renal con translocación xp11.2 en una infante

Paredes-Guerra

Larios-León

Gonzales-Gonzales³

2020

RFMH

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El carcinoma de células renales con translocación (CRT) es un subtipo de carcinoma de células renales (CCR). El presente caso trata de una niña de 11 años con dolor en fosa ilíaca derecha de dos semanas de evolución. Se evidenció tumoración de 2,2 x 1,9 x 2,8 cm en el polo superior del riñón derecho, por ecografía. Luego, fue sometida a nefrectomía radical derecha y a disección ganglionar regional, tras lo cual se diagnosticó CRT subtipo Xp 11.2. Posteriormente, se inició tratamiento de primera línea con pazopanib y quimioterapia concomitante. Esta enfermedad es más frecuente entre los 10 y 15 años. Su pronóstico suele ser mejor comparado al de los adultos. El manejo multidisciplinario asociado a la disponibilidad de medicamentos de primera línea, mejora la sobrevida libre de progresión.

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“…Xp11.2 RCC with TFE3 gene fusion has at least 5 fusion partners, including ASPL-TFE3, PSF-TFE3, CLTC-TFE3, PRCC-TFE3 and Nono-TFE3, with the chromosomal rearrangements t(X;17)(p11.2;q25), t(X;1)(p11.2;p34), t(X;17) (p11.2;q23), t(X;1)(p11.2;q21) and inv(X)(p11.2;q12), respectively (10,11). Sidhar et al were the first to describe this rare cancer (12), and the World Health Organization recognized it as a distinct entity in 2004 (2). The different gene fusions may be associated with different clinical and morphological characteristics (13).…”

Section: Discussionmentioning

confidence: 99%

“…Immunotherapy may be beneficial for patients who have hematogenous metastases, including multikinase inhibitors, interleukin-2 and interferon-α. Recent studies suggested that mammalian target of rapamycin inhibitors may be effective for Xp11.2 translocation RCC (12,20). Moreover, targeted agents, such as sunitinib, sorafenib and everolimus, have also been applied (21).…”

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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Clinicopathologic Features of Translocation Renal Cell Carcinoma

Cited by 15 publications

References 32 publications

A Rare Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Case Report of 8 Cases and Review of the Literature

A Rare Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: Case Report of 8 Cases and Review of the Literature

Carcinoma renal con translocación xp11.2 en una infante

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

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