Primary renal cell carcinoma (RCC) with metastasis is common with an estimated 30% of patients with RCC having metastases at the time of diagnosis. Evidence of metastatic RCC without a primary renal tumor is extremely...Primary renal cell carcinoma (RCC) with metastasis is common with an estimated 30% of patients with RCC having metastases at the time of diagnosis. Evidence of metastatic RCC without a primary renal tumor is extremely rare with only a handful of cases citing this occurrence. Occasionally an unclear patient presentation requires thoughtful consideration of all the possibilities and results in a clinician reexamining the data to expand a differential, thus arriving at a diagnosis. This is the case of a 22-year-old who presented with diffuse lymphadenopathy, fever, cough, lower abdominal pain following a trip to India where the patient was hospitalized, initially believed to be tuberculosis. After multiple needle biopsies of lymph nodes and a retroperitoneal mass that were insufficient for a diagnosis, a wide excisional biopsy was performed that led to a diagnosis in our patient. The patient was diagnosed with metastatic TFE3-rearranged (MiT translocation) renal cell carcinoma and subsequently started on pembrolizumab and Lenvatinib followed by debulking surgery.展开更多
文摘Primary renal cell carcinoma (RCC) with metastasis is common with an estimated 30% of patients with RCC having metastases at the time of diagnosis. Evidence of metastatic RCC without a primary renal tumor is extremely rare with only a handful of cases citing this occurrence. Occasionally an unclear patient presentation requires thoughtful consideration of all the possibilities and results in a clinician reexamining the data to expand a differential, thus arriving at a diagnosis. This is the case of a 22-year-old who presented with diffuse lymphadenopathy, fever, cough, lower abdominal pain following a trip to India where the patient was hospitalized, initially believed to be tuberculosis. After multiple needle biopsies of lymph nodes and a retroperitoneal mass that were insufficient for a diagnosis, a wide excisional biopsy was performed that led to a diagnosis in our patient. The patient was diagnosed with metastatic TFE3-rearranged (MiT translocation) renal cell carcinoma and subsequently started on pembrolizumab and Lenvatinib followed by debulking surgery.
