Cielená liečba Xp11 translokačného renálneho karcinómu

children and young adults with the occurrence of only 1–5% of all renal cell carcinomas. These
carcinomas are associated with diff erent translocations on a short arm of chromosome X in the
region 11.2, which results in genetic modifi cation of the p arm containing the transcription
factor E3 gene. Methods: Herein we report a case of a patient who was dia gnosed with TRCC
with c-Met overexpression and was treated with multiple targeted therapy agents and immunotherapy.
Case: A 28-year old woman without a signifi cant past medical history underwent
left sided total nephrectomy for TRCC. Seven months later, she developed systemic relapse and
was treated with multiple lines of targeted therapy including sunitinib, everolimus, sorafenib,
crizotinib, and pazopanib as well as with anti-PD-L1 antibody nivolumab, with stable disease
as a best response. The most pronounced disease stabilization was achieved with sorafenib,
which lasted 18 months. The patient died 81 months after initial dia gnosis and 74 months from
the dia gnosis of metastatic disease. Conclusion: Improved survival observed in our patient
could be related to the eff ectivity of tyrosine-kinase inhibitors, but not m-TOR inhibitors, even
though disease stabilisation was observed as a best response. Identifi cation of new treatment
targets are warranted in this rare disease.