病例報告: MiT家族異位性腎細胞癌

劉品均、林益聖、許兆畬、歐宴泉、童敏哲

童綜合醫療社團法人童綜合醫院

Case report: MiT Family Translocation Translocation Renal Cell Carcinoma

Pin-Chun Liu, Yi-Shang Lin, Chao-Yu Hsu, Yen-Chuan Ou, Min-Che Tung

Department of Urology, Tungs' Taichung Metroharbor Hospital, Taichung, Taiwan

Introduction:

  Translocation renal cell carcinoma (RCC) is a rare variant of RCC that tends to occur at younger age patients. We report a 15-year-old female with symptoms of left upper abdominal palpable mass.

Presenting of case:

A 15-year-old female patient without past history, presented with painless palpable mass over the left upper abdominal for 1 year. Abdominal sonography showed: a 13cm huge heterogeneous mass over the pancreatic tail region. Further abdominal computed tomography with contrast was performed and revealed a large well circumscribed and mild enhanced heterogeneous left renal tumor with internal calcifications was found over the left upper pole kidney. But neither regional lymph nodes nor distant metastasis was found. Left robotic-assisted radical nephrectomy was performed. Pathology report confirmed the diagnosis of: MiT family translocation RCC, high grade. Specimen immunohistochemical stains revealed positive results of TFE3, PAX8, CD10, AMACR and E-cadherin. Negative for CK7, Melan A and MUC1. Further next-generation sequencing tests revealed: alternation in MTOR and CD22 gene. The patient returned to the outpatient department smoothly without postoperative complications. One month after surgery, follow-up computed tomography revealed no recurrent tumor.

Discussion:

We presented a rare case of translocation RCC. Translocation RCC tends to present at a later stage and is associated with a poor prognosis compared with other RCC histology. However, standardized therapy for translocation RCC has not yet been established. VEGFR inhibitors may be considered as initial systemic therapy. Immunotherapy with the programmed cell death protein 1 (PD-1) inhibitor may be offered for those with disease progression after VEGFR inhibitors therapy, although data are limited.