MiT 家族異位腎細胞癌合併下腔靜脈侵犯 ─ 罕見病例報告

曾博鴻、陳俊吉

彰化基督教醫院 外科部 泌尿科

MiT family translocation renal cell carcinoma with inferior vena cava invasion ─ A rare case report

Po-Hung Tseng, Chun-Chi Chen

Divisions of Urology, Department of Surgery, Changhua Christian Hospital, Changhua, Taiwan

Introduction

MiT family translocation renal cell carcinoma is a rare and distinct subtype of renal cell carcinoma, a type of kidney cancer. This subtype is characterized by specific genetic translocations involving the MiT family of transcription factors, which include TFE3 and TFEB. The invasion of the IVC by RCC represents an advanced stage of the disease and poses additional challenges in terms of treatment and management. The extent and level of invasion into the IVC can vary, ranging from involvement in the renal vein to higher levels of the vena cava and atrium.

Here, we report a rare case of MiT family translocation renal cell carcinoma with inferior vena cava invasion controlled with neoadjuvant sunitinib, radical nephrectomy and adjuvant cabozantinib.

Case report

A 29-year-old female with past history of bilateral breast Infiltrating ductal carcinoma, osteosarcoma post chemotherapy and left leg amputation. She came to the outpatient department with intermittent lower abdominal pain extending to the back for several months. Abdominal ultrasound revealed a heterogeneous mass in the left kidney. Computed tomography and biopsy reported left renal cell carcinoma, accompanied by tumor thrombus formation and partial obstruction of the left renal vein and inferior vena cava. The patient underwent a three-month course of neoadjuvant therapy with Sunitinib. Patient received surgery after neoadjuvant therapy, and a consultation with cardiovascular surgeon was sought to manage the tumor thrombus in the inferior vena cava intraoperatively. Upon confirming its unresectable result, a cytoreductive left radical nephrectomy, including adrenal gland and ureter, was performed. The final pathology report revealed MiT family translocation renal cell carcinoma. The postoperative patient was discharged upon stabilization of her condition, and subsequent follow-up computed tomography revealed no extension or complete obstruction of the inferior vena cava tumor thrombosis. Subsequently, she received adjuvant treatment with cabozantinib 60mg daily in the hematology-oncology department, and her current status is stable without ongoing deterioration.

Conclusion

        We present a case of MiT family translocation renal cell carcinoma that was treated with cabozantinib after cytoreductive radical nephrectomy followed for 18 months after surgery. To date, there is insufficient data to determine the optimal treatment for these patients. It is necessary to explore effective therapeutic approaches in future clinical trials.