Purpose: This report describes an extremely rare case of an infant with neuroblastoma involving MYCN amplification found through mass screening (MS).
Patient: An 8-month-old boy was referred to our hospital after screening for neuroblastoma showed positive results. A firm tumor was found above his left kidney and completely resected.
Results: The tumor arose from the left adrenal gland. The disease was classified as stage I according to the International Neuroblastoma Staging System. Although the tumor showed a favorable histology, MYCN was amplified to 20 copies. After surgery, the infant underwent chemotherapy, but a new mass in the right adrenal gland was found. After chemotherapy, the tumor was excised. Despite several courses of chemotherapy, multiple metastases in both lung fields appeared. More intensive chemotherapy and allogenic peripheral blood stem cell transplantation were performed, but the infant died from pulmonary hemorrhage after the transplantation.
Conclusions: The majority of patients with neuroblastoma found through MS have a good outcome. However, some patients have poor prognostic factors, like our patient with MYCN amplification. There is a need to develop a suitable protocol for babies with high risk features younger than 1 year of age found through MS.