A 21-year-old woman with multiple cancers and a new brain lesion

Abstract

A 21-year-old right-handed woman, who was the product of a normal birth to nonconsanguineous parents and had normal early infantile development, was diagnosed with Burkitt lymphoma of the jaw, pelvis, and kidney at age 3 years. She was treated with 18 months of systemic cyclophosphamide, vincristine, methotrexate, and prednisolone (COMP) chemotherapy with good response. No recurrence was noted, and she remained active and well throughout her childhood and teenage years. At age 17 years, she was diagnosed with neurofibromatosis type 1 (NF1) when she presented with multiple subcutaneous tender nodules bilaterally over her shins, which had developed over months. She was found to have numerous cafe-au-lait skin lesions, axillary freckling, and Lisch nodules. Six months later, she presented with abdominal pain, cramping, hematochezia, and vomiting. Abdominal imaging revealed bowel obstruction and a mass in the descending colon. Colonic resection was performed, and pathology confirmed invasive grade 2 colonic adenocarcinoma, with one positive lymph node, in addition to an abnormal number of tubuloadenomas with low-grade dysplasia (T3N1M0). Tumor analysis suggested normal human MutS homolog (hMSH) protein expression, but an absence of human MutL homolog 1 (hMLH1) DNA mismatch repair expression. She completed a standard regimen of postoperative adjuvant 5-fluorouracil (5-FU) and leucovorin. One year after her initial colon cancer diagnosis, she presented with recurrent abdominal pain and multiple pelvic and peritoneal nodules. Peritoneal biopsy and left salpingo-oophorectomy confirmed recurrent metastatic colonic adenocarcinoma. At the patient's request, chemotherapy was deferred; however, due to continued pain and progressive disease, chemotherapy was initiated with irinotecan, 5-FU, and leucovorin. Her chemotherapy was again changed to oxaliplatin, 5-FU, and leucovorin (FOLFOX) because of continued disease. Despite an initial favorable response, she developed continued peritoneal nodules, a periaortic mass, and increased small bowel disease, leading to resection of portions of the ilium and jejunum, and, ultimately, a …