Case report
A 15-year-old female had been investigated for a three-week history of fatigue, epigastric and right upper quadrant pain, non-bilious vomiting, progressive jaundice and weight loss of 15 pounds. As liver enzymes and lipase were elevated, a presumptive diagnosis of viral hepatitis was made. After worsening of her symptoms, an ultrasound was obtained, showing a pancreatic mass, leading to her transfer to our institution.
Initial investigations demonstrated elevated ALT (360 mmol/L; normal 1–40), AST (464 mmol/L; normal 8–32), GGT (637 U/L; normal 8–35), total (104 mol/L; normal 0–24) and direct (72 mol/L; normal 0–7) bilirubin and lipase (1329 U/L; normal 0–60); CBC, albumin, INR and PTT were normal. An MRI showed a well circumscribed 3.3 × 2.3 × 2.5 cm mass, most consistent with SPN (Figure 1), leading to mass effect on adjacent structures, with dilation of the bile duct, cystic duct, intrahepatic biliary radicles and pancreatic duct. There were no lymph node or other metastases noted.
A stent was inserted in her common biliary duct through an ERCP, temporarily resolving her symptoms. She subsequently underwent a PD with retroperitoneal lymph node dissection. Pathology was consistent with a FOXO1 fusion-positive RMS. The tumor arose from the pancreatic parenchyma and invaded the duodenum, with no involvement of the biliary tract (Figure 2). One of three lymph nodes was positive for disease. She was ultimately diagnosed with a stage III, group II fusion-positive RMS. Treatment consisted of cycles of vincristine, dactinomycin and cyclophosphamide (VAC) alternating with vincristine and irinotecan (VI)14. Radiation therapy completed local control.
Early in her treatment, she developed debilitating upper and lower gastrointestinal symptoms. Initially, they presented as abdominal discomfort, early satiety, nausea and vomiting. Use of antiemetic agents, acid suppression therapy, gastroprokinetic agents and antibiotic therapy did not alleviate these symptoms. Upper gastrointestinal imaging showed no strictures or stenosis. She was diagnosed as having delayed gastric emptying secondary to the PD.
She later developed diarrhea, which did not improve with loperamide. Investigations showed exocrine pancreatic insufficiency. Despite pancreatic enzyme replacement, she had long-standing grade 3 diarrhea, with bowel movements exceeding seven per day. This was thought to be multifactorial, including exocrine pancreatic insufficiency, irinotecan toxicity, post-radiation enteritis and C. difficile infection. We discontinued VI cycles, and she thereafter received only VAC chemotherapy. The symptoms resolved over a period of months.
At diagnosis, her BMI was 20.7 (50th percentile). Through her treatment, her BMI declined rapidly, secondary to insufficient caloric intake and malabsorption due to ongoing nausea, vomiting and diarrhea. Once her BMI dropped to 15.7 (<3rd percentile), a nasojejunal (NJ) feeding tube was inserted, which helped increase her BMI to 16.3 (3rd percentile). After a few weeks, she discontinued her NJ feeds and went on a regular diet with supplements. Her BMI again declined to 15.2, leading to a prolonged hospitalization. Her weight stabilized with NJ feeding and total parenteral nutrition (TPN). An increase in her symptoms led to discontinuation of feeds and prolonged TPN requirements. Her BMI ultimately reached a low of 13.7, and she refused any further investigations and hospitalizations.
Following completion of therapy, her abdominal symptoms improved, and her BMI increased to 18. Eighteen months later, she developed metastatic recurrence in both breasts, the mediastinum and right axilla. She declined further systemic therapy, and died five months later from progressive disease.