Cases occurring in infants raise the question of a germline mutation (such as in the p53 gene) 5 or an underlying syndrome (Costello, Beckwith-Wiedmann, neurofibromatosis). Failure to define a primary site occurs in only 1% to 2% of cases. 6 Although the lung is the most common site for metastases, the tumor may spread to almost any area.
PYRITES CASEA 2-month-old girl presented with a right upper lip mass which had been enlarging since birth (Fig. 1). She did not have fever, bruising, abdominal distention, or bleeding. She was active and growing normally.Physical examination showed normal vital signs. There was a slightly red firm right upper lip mass (Fig. 2). The liver was 2 cm, and spleen 3 cm below the costal margins. Hemangioma was suspected. No labs were obtained before a tissue biopsy was performed.
An 11-year-old boy presented with enlarging bilateral cervical lymph nodes for 5 months. A local clinic and Khmer healer did not help. During the last 2 months, he had intermittent fevers.Physical examination showed fatigue, pallor, and bilateral huge (10 × 8 cm) firm matted cervical masses (Fig. 1). There was a buccal ulcer, thrush, and hepatomegaly (4 cm).Laboratory studies included: Hgb 5.0 mg/dL, white blood cell 98.6 × 109/L (neutrophils 89.4 × 109/L, lymphocytes 4.6 × 109/L, eosinophils 0.3 × 109/L, and monocytes 4.3 × 109/L), and platelets 843 × 109/L. Hepatic and renal functions, uric acid, and electrolytes were normal. Blood culture was negative.A neck ultrasound showed enlarged cervical lymph nodes with the internal cystic formation and probable small calcifications.A biopsy was performed. What is your diagnosis?FIGURE 1. The patient at presentation.
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