Abstract YO17
Case summary
BACKGROUND
Malignant rhabdoid tumor (MRT) is a pediatric tumor with a poor prognosis that can occur at any site, including the kidney and central nervous system, and there are no established treatment. Only 11 cases have been reported in adults, and the average survival time was approximately 7 months. Most patients who underwent surgical resection as initial treatment relapse within one year after surgery, so that is important to establish a treatment. We report here a case of primary renal MRT in adult patient that responded to VAC (vincristine + actinomycin D + cyclophosphamide) therapy.
CASE
A 47-year-old man with a 7 cm tumor in his left kidney detected on CT scan underwent a laparoscopic left nephrectomy. Pathological examination revealed rhabdoid-like cells and poor staining of SMARKB1/INI1, diagnosing primary renal MRT. The patient was received one cycle of VAC therapy and a contrast-enhanced CT scan showed a clear reduction of contrast effect in the recurrent mass. After three cycles of VAC therapy, the patient is still alive without disease progression and being considered surgical treatment for the abdominal mass.
CONCLUSIONS
MRT often occur in infancy, and despite multidisciplinary treatment combining surgery, chemotherapy, and radiation therapy, the prognosis is poor and there is no established treatment. The efficacy of the same treatment as rhabdomyosarcoma has been reported, and VAC therapy was showed response in this case. There have been no reports of VAC therapy in adult patients with MRT, and we believe that it may be a treatment option in the future. Although the comprehensive genomic profiling test performed in this case showed no genetic alterations, SMARCB1 gene alterations have been highly reported in MRT. There are some reports suggesting the efficacy of immune checkpoint inhibitors in SMARCB1 deficient tumors, expected to be an additional treatment option for MRT.
Clinical trial identification
BACKGROUND: Malignant rhabdoid tumor (MRT) is a pediatric tumor with a poor prognosis that can occur at any site, including the kidney and central nervous system, and there are no established treatment. Only 11 cases have been reported in adults, and the average survival time was approximately 7 months. Most patients who underwent surgical resection as initial treatment relapse within one year after surgery, so that is important to establish a treatment. We report here a case of primary renal MRT in adult patient that responded to VAC (vincristine + actinomycin D + cyclophosphamide) therapy.
CASE: A 47-year-old man with a 7 cm tumor in his left kidney detected on CT scan underwent a laparoscopic left nephrectomy. Pathological examination revealed rhabdoid-like cells and poor staining of SMARKB1/INI1, diagnosing primary renal MRT. The patient was received one cycle of VAC therapy and a contrast-enhanced CT scan showed a clear reduction of contrast effect in the recurrent mass. After three cycles of VAC therapy, the patient is still alive without disease progression and being considered surgical treatment for the abdominal mass.
CONCLUSIONS: MRT often occur in infancy, and despite multidisciplinary treatment combining surgery, chemotherapy, and radiation therapy, the prognosis is poor and there is no established treatment. The efficacy of the same treatment as rhabdomyosarcoma has been reported, and VAC therapy was showed response in this case. There have been no reports of VAC therapy in adult patients with MRT, and we believe that it may be a treatment option in the future. Although the comprehensive genomic profiling test performed in this case showed no genetic alterations, SMARCB1 gene alterations have been highly reported in MRT. There are some reports suggesting the efficacy of immune checkpoint inhibitors in SMARCB1 deficient tumors, expected to be an additional treatment option for MRT.