Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec neuroblastoma screening project

Neuroblastoma is a malignant, bleeding tumor consisting of neuroblasts, which are cells that produce cells of the sympathetic nervous system. This malignancy is the most common solid cancer in young children, affecting almost 28 million children per year for the first five years of life, in the United States. The outcome and treatment of this cancer depends on the stage of the disease and the age of the patient at diagnosis. One-third of patients are diagnosed at an early stage of the disease, and they have a survival rate of 85 percent. The other two-thirds are patients with advanced disease; those with metastasis (spreading of the cancer to other areas) have a survival rate of less than 20 percent. Thus, early diagnosis of neuroblastoma is associated with improved survival. Age is also a factor; infants diagnosed with widespread disease have a 50 percent or greater survival rate, whereas older children with metastases have a survival rate of less than 10 percent. It remains unclear whether screening for neuroblastoma before the age of one year is effective, medically or economically. The Quebec Neuroblastoma Screening Project is assessing the effectiveness of screening infants for neuroblastoma in reducing the death rate due to this cancer. All infants born in Quebec within a five-year period will be screened at three weeks and six months of age. The methods used to screen for neuroblastoma are described, and are based on the detection of homovanillic acid and vanillylmandelic acid, which are secreted by the tumor. During the first six months of screening at the three-week stage, nine of 41,673 screened infants had positive results and were referred for further evaluation. The tumor was confirmed in four of the nine infants, no tumor was found in another four, and one infant instead had a calcified adrenal gland. Another three infants were diagnosed with neuroblastoma before they reached three weeks of age. There was one confirmed case of neuroblastoma in which the tumor did not secrete homovanillic acid and vanillylmandelic acid, and screening results from this patient were negative. (Consumer Summary produced by Reliance Medical Information, Inc.)