案例分享: 腎髓質癌及文獻回顧
陳昱光1、顧明軒1、張延驊1,2、黃志賢1,2
1台北榮民總醫院泌尿部；2 國立陽明大學醫學院泌尿學科及書田泌尿科學研究中心
A case of renal medullary carcinoma and literature review
Yu-Kuang Chen1, Ming-Hsuan Ku1,2, Yen-Hwa Chang1,2, William J. Huang1,2
1 Department of Urology, Taipei Veterans General Hospital, Taipei, Taiwan
2Department of Urology, School of Medicine and Shu-Tien Urological Science Research Center, National Yang-Ming University, Taipei, Taiwan
Introduction
Renal medullary carcinoma is a rare subtype of renal cancer. Typically, the cancer occurs at young adults, and is almost exclusively with sickle cell trait, or rarely sickle cell disease. It had been considered as the seventh sickle cell nephropathy, amongst gross hematuria, papillary necrosis, nephrotic syndrome, renal infarction, inability to concentrate urine, and pyelonephritis. Renal medullary carcinoma was manifested as rapid progression, and poor prognosis. Neither chemotherapy, target therapy nor radiation therapy results in good response. Renal medullary carcinoma is most common in black race, although cases had been reported in Hispanics, Brazillians and a few Caucasians. Incidence of Asian population is extremely rare.
Case presentation
The patient is a 54-year-old woman without significant past medical history. She suffered from continuous left flank pricking pain for four months, with radiation to left inguinal area. Poor appetite, fatigue, and body weight loss of 3 kgs in one month were also noted. She firstly visited nephrologist and elevated CA-125 (717U/mL) was evidenced. Abdomen CT scan on March 31, 2017 showed left renal tumor with regional lymphadenopathy, liver metastases and descending colon invasion. CT-guide biopsy reported sarcomatoid carcinoma. Left open radical nephrectomy and left hemicolectomy were performed smoothly on April 46, 2017. Surgical pathology demonstrated renal cell carcinoma, medullary phenotype, pT4. The tumor cells are negative for PAX8, CA IX and ALK, with intact fumarate hydratase expression, but show INI1 loss and focal OCT3/4 reactivity. Since sickel cell disease was correlated to medullary cell carcinoma, we arranged electrophoresis on May 5, 2017, but the reports showed no sickle cell disease. With the diagnosis of left side renal cell carcinoma with medullary phenotype, regional lymphadenopathy, colon invasion and liver metastasis, pT4N1M1, she received 1st course chemotherapy with gemcitabine plus adriamycin during May 20 to 21, gemcitabine plus doxorubicin among June 13 to 14. Follow-up CT scan showed progression of liver, bone metastases and newly developed lung metastasis. Palliative radiation therapy was then applied to bony metastases. Gemcitabine plus cisplatin/gemcitabine (GC-G) was then started in July. Restaging CT scan in September 2017 showed disease regression in liver and lung metastases but progression in bony metastases. After 5 courses of GC-G and 2 courses of paclitaxel plus carboplatin, CT scan in January 2018 showed progression of liver and muscle metastasis, stable bone mets and newly found right side lung metastasis and pleural effusion. With tumor progression, she was admitted to oncology ward in February 2018 and multiple organ failure developed afterwards. The patient passed away 3 weeks later in hospice care.