ABSTRACT
OBJECTIVE: To establish reference ranges for serum α-fetoprotein (AFP) at various ages in patients with Beckwith-Wiedemann spectrum (BWSp), to better predict the risk for hepatoblastoma in this population. STUDY DESIGN: A retrospective analysis of AFP measurements collected from patients with BWSp was performed. Factors including sex, prematurity, molecular diagnosis of patients, and performing laboratory were evaluated for significant differences. In total, 1372 AFP values were collected from 147 patients and the predictive AFP values at various ages were calculated to establish reference ranges. Mixed-effects polynomial regression models were used to study various potential factors affecting log(AFP) values. RESULTS: Overall, predicted AFP values declined to normal range for age (<10 ng/mL) by 14 months old. Patient sex and performing laboratory were found not to influence values. A significant difference was demonstrated between premature and nonpremature patients, and separate reference values were established. Significant differences in the predicted AFP value were not broadly apparent between molecular subtypes; however, interpretation was limited due to the small sample size of some of these subtypes. CONCLUSIONS: Predictive AFP values were created for premature and nonpremature patients with BWSp to aid with interpretation and monitoring of the risk for hepatoblastoma. Further analysis is needed to determine whether AFP values differ within the less common molecular subtypes of patients with BWSsp.
Subject(s)
Beckwith-Wiedemann Syndrome/blood , alpha-Fetoproteins/analysis , Beckwith-Wiedemann Syndrome/complications , Child, Preschool , Female , Hepatoblastoma/epidemiology , Hepatoblastoma/etiology , Humans , Infant , Infant, Newborn , Liver Neoplasms/epidemiology , Liver Neoplasms/etiology , Male , Predictive Value of Tests , Reference Values , Retrospective Studies , Risk AssessmentABSTRACT
El hepatoblastoma en el recién nacido tiene una baja incidencia, sin embargo es el tumor hepático maligno más común. Solo un 4 por ciento se diagnostica al momento del nacimiento y es muy raro el diagnóstico prenatal. El hepatoblastoma se asocia a malformaciones o condiciones genéticas como el síndrome de Beckwith-Wiedemann, también con el muy bajo peso al nacer. La quimioterapia preoperatoria mejora las posibilidades de resección y trasplante, así como se reporta mejoría de la sobrevida de un 40 por ciento a un 90 por ciento. Se describe el caso de un recién nacido con un hepatoblastoma de tipo epitelial, en estadio IV dada la imposibilidad de resección primaria.
Subject(s)
Humans , Adult , Female , Infant, Newborn , Cesarean Section/methods , Liver Neoplasms/diagnosis , Liver Neoplasms/etiology , Liver Neoplasms/pathology , Drug Therapy/methods , Ultrasonography , Biopsy/methods , Carcinoma/diagnosis , Carcinoma/pathology , Hepatoblastoma/etiology , Hepatoblastoma/pathologyABSTRACT
Hepatoblastoma is associated with familial adenomatous polyposis (FAP). In a series of 93 patients with hepatoblastoma,8 (8.6%) reported family histories suggestive of FAP. These and a review of reported FAP kindreds with hepatoblastoma may provide information helpful in counseling families with FAP.
Subject(s)
Adenomatous Polyposis Coli/complications , Genes, APC , Hepatoblastoma/etiology , Liver Neoplasms/etiology , Adenomatous Polyposis Coli/genetics , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , MutationABSTRACT
Hepatoblastoma, a malignant hepatic tumor in children, is thought to be an embryonal tumor resulting from developmental disturbances during organogenesis. Although factors that might be involved in the tumorigenesis have been suggested, an association between hepatoblastoma and the patient's birth weight has not been reported. We have accessed the data in the Japan Children's Cancer Registry and have analyzed patients' diagnoses and birth weights. During the 9 years from 1985 to 1993, 38 (0.38%) patients with tumors who weighted less than 1500 gm at birth were identified among 9923 registered patients. Hepatoblastoma was diagnosed in 9 patients of very low birth weight, representing 3.9% of the 231 patients with hepatoblastoma registered. A significant linear trend toward an increase in the percentage of patients with a birth weight of less than 1500 gm was observed specifically in hepatoblastoma (p = 0.0047). The percentage rose from 0.7% (1/138) in the 5-year period of 1985 to 1989 to 8.6% (8/93) in the next 4-year period (1990 to 1993). This increase was attributed to the significant increase in the percentage of patients who weighed less than 1000 gm at birth (p = 0.0028). A separate peak in the number of patients in the birth weight range of less than 1000 gm suggests that the cause of hepatoblastoma related to very low birth weight may be different from that of other patients. Full analysis of the patients' data is an urgent matter.