Results
A 20-year-old female with history of stage MS neuroblastoma presented with three weeks of progressive mid-epigastric abdominal pain. Her medical history was notable for stage MS neuroblastoma diagnosed at 7 weeks of age with clinical findings of abdominal distension and skin nodules. At initial diagnosis, she had elevated VMA and HVA levels (291 mg/g and 212 mg/g) and 123I-MIBG avid disease. She was staged MS with palpable skin nodules, right adrenal mass, and <10% marrow disease. The patient underwent 90% resection of retroperitoneal mass at 20 months with pathology demonstrating favorable histology, N-MYC nonamplified and DNA index 1.2. She received isotretinoin for 44 months due to multiple progressions with gradually increasing size of residual retroperitoneal mass and delayed catecholamine normalization. Stabilization of mass was achieved, but catecholamines did not normalize until 175 months after diagnosis. She had subsequently been followed in survivor clinic until presentation.
Computerized tomography imaging demonstrated an abnormal portacaval node, a retroperitoneal mass with periportal extension, and a proximal right femoral lesion. Fine-needle aspirate of the periportal mass confirmed recurrent neuroblastoma. FISH showed N-MYC nonamplification, and 123I-MIBG scan demonstrated avidity in tumor bed, portocaval and paraaortic lymph nodes, T8 vertebra, and proximal right femur. Urine VMA and HMA were 3.3 mg/g and 3.4 mg/g respectively. Bone marrow biopsy was negative for disease. The patient was diagnosed with stage M or stage IV neuroblastoma 20.5 years after initial diagnosis, a very late recurrence.
She was initiated on high-risk neuroblastoma therapy per ANBL0532 protocol. Aggressive biopsy of retroperitoneal mass demonstrated neuroblastic tumor with histologic evidence of early treatment response versus ganglioneuromatous stroma with foci of maturing ganglions. She underwent tandem autologous stem cell transplant and radiation with a total of 2160 cGy to the vertebral bodies, right femoral head, and right adrenal gland. Patient tolerated treatment well with reimaging demonstrating stable 123I-MIBG uptake. Due to severe VZV-esophagitis, TPN initiation was indicated, ultimately delaying immunotherapy initiation. After stabilization of nutritional status, she was treated per ANBL0032 with clearance of bone disease on immunotherapy. End of treatment scans demonstrated no evidence of metastatic disease and stabilization of retroperitoneal mass with minimal 123I-MIBG positivity.
Patient’s clinical course was complicated by severe liver fibrosis secondary to transfusion-related iron overload. She endured recurrent episodes of abdominal pain and ascitic fluid accumulation with eventual peritoneovenous shunt placement. She unfortunately passed due to septic shock and peritonitis suspected to be due to shunt dysfunction. This was 23 months and 19 days from achieved clinical remission of neuroblastoma without evidence of disease progression.