Primitive neuroectodermal tumors (PNET) are highly aggressive tumors belonging to the Ewing’s sarcoma family. Primitive neuroectodermal tumor is a group of bone and soft tissue tumor arising from neuroectodermal tissues. They are characterized by the expression of MIC2 and neural markers like neuron-specific enolase, synaptophysin, S-100, vimentin, Leu-7, and the presence of the EWS-FLI1 translocation. It is a rare malignancy with only about 150 cases being published worldwide. The tumor usually presents with non-specific symptoms such as abdomen pain and hematuria. Inferior vena cava (IVC) involvement by renal PNET is extremely rare with only a handful cases reported in the literature and is a clinically challenging scenario. There is a dearth of data on the management of this disease; further, the management of this disease in current scenarios is not well reported. We report our experience with three cases over 11 years which spans all three spectrums of the disease: localized, locally advance and metastasis.
Case 1: 37-year-old gentleman presenting with hematuria found to have right renal tumor with IVC invasion which was found to be unresectable intraoperatively. Patient was started on chemotherapy but deteriorated and died 3 months later. Case 2: 38-year-old gentleman presenting with abdominal pain found to have locally advanced left renal tumor. Patient developed local recurrence and metastasis 15 months after resection but had stable disease for nearly 4 years before developing acute myeloid leukemia and withdrawing consent for treatment. Case 3: 13-year-old girl who presented with right abdominal mass and subsequently found to have localized disease. After aggressive chemotherapy, patient is now recurrence-free after nearly 11 years.
Our study aims to show the spectrum of renal primitive neuroectodermal tumors with outcomes in all three clinical scenarios, with the aim of reinforcing that high index of suspicion for this disease is required in young patients presenting with aggressive disease, and immunohistochemistry should be used when in doubt, as outcomes are greatly improved with adjuvant chemotherapy.