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.