RBM10 – TFE3 renal cell carcinoma characterised by paracentric inversion with consistent closely split signals in break‐apart fluorescence in‐situ hybridisation: study of 10 cases and a literature review

2019 ◽  
Vol 75 (2) ◽  
pp. 254-265 ◽  
Author(s):  
Ikuma Kato ◽  
Mitsuko Furuya ◽  
Masaya Baba ◽  
Yoichi Kameda ◽  
Masanori Yasuda ◽  
...  

2012 ◽  
Vol 30 (5_suppl) ◽  
pp. 403-403
Author(s):  
Imogen Rose Caldwell ◽  
Paul Oei ◽  
Daniel Ng ◽  
Peter C.C. Fong ◽  
Reuben James Broom

403 Background: The mTOR inhibitors have improved outcomes for pts with metastatic renal cell carcinoma (mRCC) but the duration of benefit is variable. Currently there are no predictive biomarkers for pre-selecting pts who are likely to respond to these agents. We undertook an exploratory translational study evaluating cytogenetic changes in the context of response to everolimus therapy. Methods: 10 pts with mRCC treated with everolimus therapy were enrolled. Pre-treatment paraffin-embedded tissue specimens were analysed for cytogenetic changes using fluorescence in situ hybridisation (FISH) and clinical data including PFS (RECIST 1.1) were obtained. The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@. Results: Results are displayed in the table below. The median PFS was 8.25mo (months). Eight pts were treated 1st-line (on clinical trial), one 2nd-line and one 3rd-line. The longest responder (PFS 25.5mo, 3rd-line) had a normal VHL status but loss of FHIT. Two pts with the longest PFS and one with a PFS of 5.5mo had gain of both PDGFb and PDGFRb. Gain of FGFR1 and FGFR3 was seen in two and three pts respectively. Two specimens were unsuitable for full analysis. Conclusions: Loss of FHIT but a normal VHL status was seen in one pt with mRCC who had an enduring response to everolimus. Concomitant gain of PDGFband PDGFRb was observed in three pts with a good response. FGFR1/3 may be of relevance in the setting of alternative targeted therapies. Further research evaluating the utility of these potential biomarkers is required. [Table: see text]



2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e15050-e15050
Author(s):  
Imogen Rose Caldwell ◽  
Paul Oei ◽  
Daniel Ng ◽  
Beth Caudwell ◽  
Peter C.C. Fong ◽  
...  

e15050 Background: The mTOR inhibitors have improved outcomes for pts with metastatic renal cell carcinoma (mRCC) but the duration of benefit is variable. Currently there are no predictive biomarkers for pre-selecting pts who are likely to benefit from these agents. We undertook an exploratory translational study evaluating cytogenetic changes in the context of benefit from everolimus therapy. Methods: 10 pts with clear cell mRCC treated with everolimus therapy were enrolled. 2 pts had both primary & metastatic specimens. Pre-treatment paraffin-embedded tissue specimens were analysed for cytogenetic changes using fluorescence in situ hybridisation (FISH) & clinical data including Progression-free Survival (PFS) (RECIST 1.1) were obtained. The gene probes chosen for this analysis were: VHL, FHIT, PDGFβ, PDGFRβ, FGFR1, FGFR3, EGFR, MYC, PTEN & IGH@. Results: Results are displayed in the table. The median PFS was 7.5 months (mo), including 4 pts who remain on treatment. 8 pts were treated 1st-line, one 2nd-line & one 3rd-line. The longest responder (PFS 28 mo, 3rd-line) had a normal VHL status but loss of FHIT. 2 pts with the longest PFS had gain of both PDGFβ & PDGFRβ. Changes were observed between the primary & metastatic specimens including the acquisition of gain of PDGFβ & MYC (these pts remain progression-free on treatment). Conclusions: Loss of FHIT but a normal VHL status was seen in one pt with mRCC who had an enduring response to everolimus. Concomitant gain of PDGFβ & PDGFRβ was observed in 5 pts including 2 with prolonged benefit. Acquisition of gains in gene status suggests evolution of genetic changes between primary & metastatic specimens. [Table: see text]



2016 ◽  
Vol 33 (2) ◽  
pp. 68-73
Author(s):  
Pedro Miguel Baltazar ◽  
Ana Meirinha ◽  
Raquel João ◽  
João Magalhães Pina ◽  
Hugo Pinheiro ◽  
...  


2009 ◽  
Vol 1 (2) ◽  
pp. 16
Author(s):  
Tobe Samuel Momah ◽  
Dhanan Etwaru ◽  
Phillip Xiao ◽  
Vasantha Kondamudi




1995 ◽  
pp. 84-93
Author(s):  
Petra Jantzer ◽  
Ralph Oberneder ◽  
Barbara Maget ◽  
Dolores J. Schendel


2020 ◽  
Author(s):  
Naoto Nishii ◽  
Hiroaki Shimamoto ◽  
Toshimitsu Ohsako ◽  
Misaki Yokokawa ◽  
Yuriko Sato ◽  
...  

Abstract Background: Metastasis of renal cell carcinoma (RCC) to the oral cavity is rare. Given the poor prognosis of metastatic RCC, treatment choice is difficult. Here, we report a case of RCC metastasis to the maxillary bone, and provide a detailed literature review regarding the patient characteristics, treatments and outcomes of RCC metastasis to the oral cavity.Case presentation: An 89-year-old Japanese man presented with an 8 × 8-mm granulomatous tumor with palpable pulsation in the left upper gingiva, which had been clinically suspected as an arteriovenous malformation. The patient had undergone left nephrectomy for clear cell carcinoma 7 years prior. Pulmonary metastasis had appeared 3 years later. The patient underwent tumor resection of the maxilla after intravascular embolization, and the tumor was histopathologically diagnosed as a metastasis of clear cell RCC to the maxillary bone. Seventeen months after surgery, he died because of pulmonary metastasis without evidence of recurrence in the oral cavity.Conclusion: Our literature review reveals that oral metastatic lesions of renal cancer often exhibit rapid enlargement and cause severe symptoms, such as dysphagia and bleeding. Although oral metastasis of RCC has a poor prognosis due to the presence of concurrent disseminated metastases, surgical therapy may be recommended because of its high local control rate and ability to maintain quality of life.





2018 ◽  
Vol 46 (8) ◽  
pp. 3422-3426 ◽  
Author(s):  
Ercan Yilmaz ◽  
Fatih Oguz ◽  
Gorkem Tuncay ◽  
Rauf Melekoglu ◽  
Ali Beytur ◽  
...  

Diagnosing cancer during pregnancy is uncommon. Although pregnancies with concomitant malignancies have been reported, urological tumours are possibly the most rarely identified tumours during pregnancy. Renal cell carcinoma appears to be the most common urological malignancy during pregnancy. In this case report, we discuss successful management of a patient who was diagnosed with renal cell carcinoma during the antenatal period.



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