RESUMO
We reported a rare case of cutaneous metastases of renal cell carcinoma (RCC) with an Xp11.2 translocation in a 15-year-old female. Clinicians should be aware of the possibility of this uncommon site of metastasis, which can indicate multivisceral dissemination of the disease. We discuss the feasibility and opportunity of treating such a patient with multiple line of tyrosine kinase inhibitor (TKI) targeting vascular endothelial and platelet-derived growth factor receptors.
Assuntos
Carcinoma de Células Renais/patologia , Cromossomos Humanos Par 11/genética , Cromossomos Humanos X/genética , Neoplasias Renais/patologia , Neoplasias Cutâneas/secundário , Translocação Genética/genética , Adolescente , Carcinoma de Células Renais/tratamento farmacológico , Carcinoma de Células Renais/genética , Feminino , Humanos , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/genética , Prognóstico , Inibidores de Proteínas Quinases/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/genéticaRESUMO
Purpose: To analyze the imaging characteristics of Xp11.2/TFE3 translocation renal cell carcinoma and explore the relationship between the pathological features and imaging findings. Materials and Methods: Imaging, pathological, and clinical data of 28 patients with Xp11.2 RCC were studied from August 2013 to November 2019. The imaging characteristics and morbidity of different group were also explored meanwhile. Results: Patients ranged from 3 to 83 years old and the median age was 47 years. Bilateral renal tumors were detected in 1 patient and unilateral in the rest 27 patients. Out of 29 tumors, 13 were in the left kidneys and 16 in the right. Tumor size ranged from 2.2 cm × 2.5 cm to 20.0 cm × 9.7 cm. Tumors were cystic component/necrosis (29/29,100%), renal capsule breakage (16/29, 55%), capsule (18/29, 62%), calcification (15/29, 52%), fat (4/29, 14%), and metastasis (10/29, 34%). Tumors showed moderate enhancement during renal corticomedullary phase and delayed enhancement during nephrographic and excretory phase. The solid parts showed hypointense on T2WI. The imaging characteristics did not have significant correlation with the age, the incidence of adolescent and children group was higher than adult group. Conclusion: Xp11.2 RCC is a well-defined mass with cystic component, the solid part of tumor showed hypointense on T2WI. Xp11.2 RCC showed moderate enhancement during the renal corticomedullary phase and delayed enhancement during the nephrographic phase and excretory phase. Xp11.2 RCC has a higher incidence in children.