A Case Report of Aggressive Adult Neuroblastoma Mimicking Acute Leukemia with Fulminant Course and Fatal Outcome

Abstract

<jats:title>Abstract</jats:title> <jats:p>Neuroblastoma is an embryonic neoplasm of the sympathetic nervous system derived from the primitive neural crest cells. It is the second most common extra cranial malignant tumor of childhood and the most common solid tumor of infancy, comprising 8 to 10 percents of pediatric cancers. Forty percent of patients who present with clinical symptoms at diagnosis are under 1 year of age, and less than 5% with clinical symptoms are over the age of 10 years. The tumor very rarely occurs in adult patient (defined as 20 years of age and older) and usually has an indolent course with poor survival. Up until June 2008, no more than 65 neuroblastomas in adults had been reported in the literature. Majority of the reports describe an indolent and longer course of the disease among adults with different biological characteristics when compared to children, but ultimately poor outcome regardless of the initial stage of the disease. Here, we report a case of aggressive adult neuroblastoma mimicking acute leukemia with fulminant course and fatal outcome. The patient, a previously healthy 38 years old Caucasian male, presented at our department with a 4 months history of hip pain, headaches, malaise, weakness, persistent diarrhea, poor appetite and weight loss. On admission he was febrile, prostrated, pale, fixed in bed. His abdomen was distended with present bowel movements. The liver and spleen were 3 cm and 5 cm below the costal margins respectively. No abdominal mass was palpable. Neurological examination showed right Horner’s syndrome, reduction of the superficial sensitivity on the Th1 and Th2 level and loss of the tendon-muscle reflexes of the lower limbs. He had paraplegia, indicating possible spinal cord compression. The complete blood counts revealed pancytopenia and presence of 11 % peculiar circulating blastoid cells. The LDH was 3552U/l. Under suspicion of acute leukemia bone marrow aspirate and biopsy was performed. Immunophenotyping of the bone marrow mononuclear cells showed presence of around 50% CD45negative, CD56 and CD9 positive cells, indicating a possible involvement of the bone marrow with neuroblastoma. A routine second opinion from a reference pathologist was also interpreted as neuroblastoma and confirmed with positive immunohistochemical staining for NSE, chromogranin, synaptophysin and negative for LCA. A work-up for neuroblastoma was done and investigations confirmed disseminated stage 4 neuroblastoma. In spite of the appropriate treatment with intensive chemotherapy regimen, the patient failed to improve and died of progressive disease. Our case report illustrate the usefulness of including CD56 marker in flow-cytometry acute leukemia assays, especially in cases when CD45 expression is absent, as initial screening tool for recognizing cases of neroblastoma which simulate acute leukemia.</jats:p>