Renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: an adult case report and literature review

Wang, Yuxiong; Feng, Mingliang; Lian, Xin; Lei, Yongsheng; Zhou, Honglan

doi:10.1177/0300060520942095

Cited by 11 publications

(13 citation statements)

References 53 publications

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“…The resulting genetic disease caused by the translocation of the TFE3 gene on chromosome Xp11.2 leads to overexpression of the TFE3 protein in the nucleus of cancer cells. [1,7] No previous exposure to cytotoxic chemotherapy was reported in our case, and immunohistochemical analysis revealed positive staining for TFE3.…”

Section: Discussionmentioning

confidence: 78%

“…The combination of immune checkpoint inhibitors and vascular endothelial growth factor receptor-tyrosine kinase inhibitors might be crucial in the management of metastatic TFE3 /Xp11 translocation RCC. [7,9] In conclusion, the incidence of TFE3-related RCC is relatively low, especially in adults with various clinical presentations, including paraneoplastic syndrome, if not incidentally discovered. Although elevated blood pressure as an isolated presentation of conventional RCC is extremely rare, it has never been reported in association with TFE3/Xp11-related RCC.…”

Section: Discussionmentioning

confidence: 86%

“…Nevertheless, approximately one-third of cases are asymptomatic and discovered incidentally by imaging. [7] Two cases of this genetic disease presenting as isolated paraneoplastic syndrome have been reported in the literature, including avascular necrosis of the femur and cutaneous vasculitis. [5,8] Hypertension as an isolated paraneoplastic event related to TFE3/Xp11 translocation RCC, as in the present case, has never been reported.…”

Section: Discussionmentioning

confidence: 99%

“…However, for non-metastatic disease, surgery (radical nephrectomy or nephron-sparing surgery in case of cT1 neoplasms) remains the main treatment option, which is generally the only curative treatment. [7]…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Transcription factor E3 renal cell carcinoma presenting as secondary hypertension

Mukendi¹,

Mataruka²,

Nadimpalli³

et al. 2022

Curr Urol

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“…The malignant potential of TRCC is roughly equivalent to clear cell renal cell carcinoma (ccRCC) and exceeds that of papillary renal cell carcinoma [ 11 ]. Surgery is the first line of treatment in patients without metastasis, whereas in patients presenting with widespread metastasis, the role of targeted and immunotherapy is being considered [ 1 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

Xp11.2 Translocation Renal Cell Carcinoma: A Rare Renal Cell Carcinoma

Kalita¹,

Dey²,

Saurabh³

et al. 2023

Cureus

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Translocation-associated renal cell carcinoma (TRCC) is a group of under-recognized malignant renal neoplasms owing to the unavailability of ancillary diagnostic tools and considering the fact that these tumors may histomorphologically mimic a heterogeneous group of neoplasms ranging from benign to malignant ones. Xp11.2 translocation-associated renal cell carcinoma is a disease of the young with a relatively less known prognosis owing to the rarity of such reported neoplasms. The histological appearance of bulbous tumor cells with abundant, vacuolated cytoplasm and the presence of psammomatoid bodies are clues to the diagnosis but are not entirely specific. The immunohistochemistry (IHC) finding of transcription factor E3 (TFE3) positivity is an important pointer, but the demonstration of Xp11.2 translocation by fluorescence in situ hybridization (FISH) serves as the confirmatory test. In our case report, we highlight the fact that a combined approach involving light microscopy, immunohistochemistry, and fluorescence in situ hybridization is the key to its diagnosis.

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A nomogram based on TFE3 IHC results and clinical factors as a preliminary screening scheme for TFE3‐rearranged renal cell carcinoma

Li,

Xu,

Chen

et al. 2024

Cancer Medicine

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BackgroundTFE3 immunohistochemistry (TFE3‐IHC) is controversial in the diagnosis of TFE3‐rearranged renal cell carcinoma (TFE3‐rearranged RCC). This study is to investigate the accuracy and sensitivity of IHC and establish a predictive model to diagnose TFE3‐rearranged RCC.MethodsRetrospective analysis was performed by collecting IHC and fluorescence in situ hybridization (FISH) results from 228 patients. IHC results were evaluated using three scoring systems. Scoring system 1 is graded based on nuclear staining intensity, scoring system 2 is graded based on the percentage of stained tumor cell nuclei, and scoring system 3 is graded based on both the nuclear staining intensity and the percentage. We collected patients' IHC results and clinical information. Important variables were screened based on univariate logistic regression analysis. Then, independent risk factors were established through multivariate logistic regression, and a nomogram model was constructed. The model was validated in internal test set and external validation set. The receiver operating characteristic curve (ROC curve), calibration curve, and decision curve analysis (DCA) were generated to assess discriminative ability of the model.ResultsThe accuracy of IHC based on three scoring systems were 0.829, 0.772, and 0.807, respectively. The model included four factors including age, gender, lymph node metastasis and IHC results. Area under the curve (AUC) values were 0.935 for the training set, 0.934 for the internal test set, 0.933 for all 228 patients, and 0.916 for the external validation set.ConclusionsTFE3 IHC has high accuracy in the diagnosis of TFE3‐rearranged RCC. Clinical information such as age and lymph node metastasis are independent risk factors, which can be used as a supplement to the results of TFE3 IHC. This study confirms the value of IHC in the diagnosis of TFE3‐rearranged RCC. The accuracy of the diagnosis can be improved by incorporating IHC with other clinical risk factors.

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Renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: an adult case report and literature review

Cited by 11 publications

References 53 publications

Transcription factor E3 renal cell carcinoma presenting as secondary hypertension

Transcription factor E3 renal cell carcinoma presenting as secondary hypertension

Xp11.2 Translocation Renal Cell Carcinoma: A Rare Renal Cell Carcinoma

A nomogram based on TFE3 IHC results and clinical factors as a preliminary screening scheme for TFE3‐rearranged renal cell carcinoma

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