Adult Xp11.2 translocation renal cell carcinoma managed effectively with pazopanib

Abstract

Xp11.2 translocation renal cell carcinoma (TRCC) is a rare and aggressive variant of renal cell carcinoma (RCC) when presenting in adults. We report a case of a man in his early 40s who was diagnosed with stage III Xp11.2 TRCC and underwent radical nephrectomy. Seven months following the surgery, an adrenal nodule and bilateral pulmonary nodules were discovered. He underwent cryoablation of the adrenal nodule and systemic treatment with daily pazopanib. He displayed stable disease for approximately 6 years. Following this period, multiple hospitalisations interrupted daily pazopanib therapy resulting in progression of disease. His regimen was then changed to ipilimumab and nivolumab, followed by current daily therapy with axitinib. The patient now shows stable disease in his 10th year after diagnosis. This case study demonstrates the efficacy of pazopanib for metastatic Xp11.2 TRCC and warrants further investigation to supplement the guidelines regarding the use of targeted therapy for TRCC.

Gene Expression Analysis of Aggressive Adult Xp11.2 Translocation Renal Cell Carcinoma at Clinical Stage T1N0M0 to Identify Potential Prognostic and Therapeutic Biomarkers

“…No clinical trials have suggested the use of targeted agents in Xp11.2 tRCC, and most are based on observational studies, mainly using sunitinib [ 1 ]. Choueiri et al have reported the effect of anti-vascular endothelial growth factor (VEGF) therapies (sunitinib, sorafenib, and monoclonal anti-VEGF antibodies) in 15 patients with metastatic Xp11.2 tRCC, with objective response rates of 66.7% [ 20 ].…”

“…Choueiri et al have reported the effect of anti-vascular endothelial growth factor (VEGF) therapies (sunitinib, sorafenib, and monoclonal anti-VEGF antibodies) in 15 patients with metastatic Xp11.2 tRCC, with objective response rates of 66.7% [ 20 ]. Additionally, Solano et al reported a case demonstrating the therapeutic efficacy of pazopanib, a similar anti-VEGF agent [ 1 ]. Alternatively, some studies have suggested that the mammalian target of rapamycin (mTOR) inhibitors is a treatment option for Xp11.2 tRCC [ 21 ].…”

“…Renal cell carcinoma (RCC) involving translocations at Xp11.2, referred to as Xp11.2 translocation RCC (tRCC), is a rare subtype and has gained significant clinical interest in the last two decades [ 1 , 2 ], after its inclusion as a new distinct entity in the 2004 World Health Organization (WHO) classification of renal tumors [ 3 ]. tRCC has been subclassified as belonging to the microphthalmia transcription factor-associated family tRCC in the updated 2016 WHO classification based on improvements in genetic profiling technology [ 4 ].…”

“…There are only a few case reports and observational studies of systemic therapies for advanced Xp11.2 tRCC, most of which focused on sunitinib [ 1 ]. Systemic treatment guidelines for advanced Xp11.2 tRCC are currently unavailable owing to the rarity of the disease as well as the poor understanding of its molecular pathophysiology [ 1 ].…”

“…There are only a few case reports and observational studies of systemic therapies for advanced Xp11.2 tRCC, most of which focused on sunitinib [ 1 ]. Systemic treatment guidelines for advanced Xp11.2 tRCC are currently unavailable owing to the rarity of the disease as well as the poor understanding of its molecular pathophysiology [ 1 ]. In this study, tissue samples were analyzed to develop molecular biomarkers for aggressive Xp11.2 tRCC and evaluated the value of these biomarkers for determining the appropriate systemic therapy.…”