TFE3 Translocation-Associated Renal Cell Carcinoma Presenting as Avascular Necrosis of the Femur in a 19-Year-Old Patient: Case Report and Review of the Literature

Nelius, Thomas; Al-Khalil, Ihsan; Vordermark, Jonathan S.; Rinard-Holden, K.; Cammack, T.; Mamlok, Viviane; Filleur, Stéphanie

doi:10.1155/2011/432917

Cited by 7 publications

(8 citation statements)

References 38 publications

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“…According to several previous studies, interferon (IFN-a) and interleukin-2 (IL-2) do not produce a significant response in this type of tumor [21, 29]. Recently, the molecular-targeted therapy using a receptor tyrosine kinase inhibitor, e.g., sunitinib or sorafinib, was shown to be a treatment choice for patients with lymph node or distant metastases [24, 30].…”

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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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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“…Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the impact of current treatment modalities remains to be uncertain [25]. The observed objective response rate and progression-free survival of targeted agents were similar to those reported for clear cell RCCs [26].…”

Section: Treatmentmentioning

confidence: 53%

“…Sunitinib appears to be more effective than cytokine. Prospective randomized studies on novel targeted agents are needed to identify the optimal treatment strategy for this specific patient population [25].…”

Section: Treatmentmentioning

confidence: 99%

Renal Cell Carcinoma Associated with Xp11.2 Translocation/Transcription Factor E3 (TFE3) Fusion

Alexiev¹

2013

J Cytol Histol

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“…MiT translocation RCC is an uncommon cytogenetic subtype of renal malignancy characterized by the fusion of TFE3 gene on chromosome X or transcription factor EB gene on chromosome 6. [1,5,6] TFE3 or Xp11 translocation RCC, as in this case, has a much lower incidence among adults but accounts for the majority of pediatric RCC cases. The most observed Xp11 translocations are t(X;1) (p11.2;q21), t(X;17) (p11.2;q25), and t(X;1) (p11.2;p34) fusing the pediatric RCC and TFE3 genes, ASPL and TFE3 genes, and SFPQ ( PSF) and TFE3 genes, respectively.…”

Section: Discussionmentioning

confidence: 73%

Transcription factor E3 renal cell carcinoma presenting as secondary hypertension

Mukendi¹,

Mataruka²,

Nadimpalli³

et al. 2022

Curr Urol

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Microphthalmia-associated transcription factor family (transcription factor E3 or transcription factor EB) translocation renal cell carcinomas (RCCs) are rare neoplasms. These renal neoplasms can be either asymptomatic and incidentally discovered on imaging or symptomatic, with the most common presenting symptoms being hematuria, pain, and abdominal mass, or paraneoplastic event. In conventional RCCs, hypertension is considered a risk factor and a possible paraneoplastic event, whereas, in translocation RCCs, prior exposure to cytotoxic chemotherapy is the only known risk factor, and hypertension as an isolated associated paraneoplastic event has never been reported. Interestingly, hypertension as the only presenting symptom in RCC is extremely rare. We report a case of transcription factor E3 positive RCC in a young adult presenting only with hypertension that normalized after radical nephrectomy. To the best of our knowledge, this is the first reported case of hypertension secondary to microphthalmia-associated transcription translocation RCC.

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TFE3 Translocation-Associated Renal Cell Carcinoma Presenting as Avascular Necrosis of the Femur in a 19-Year-Old Patient: Case Report and Review of the Literature

Cited by 7 publications

References 38 publications

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

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

Renal Cell Carcinoma Associated with Xp11.2 Translocation/Transcription Factor E3 (TFE3) Fusion

Transcription factor E3 renal cell carcinoma presenting as secondary hypertension

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