Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases

Abstract

Alpha-fetoprotein (AFP) is a protein commonly found during fetal development, but its role extends beyond birth. Throughout the first year of life, AFP levels can remain high, which can potentially mask various conditions from the neurological, metabolic, hematological, endocrine, and early childhood cancer groups. Although AFP reference values and clinical utility have been established in adults, evaluating AFP levels in children during the diagnostic process, treatment, and post-treatment surveillance is still associated with numerous diagnostic pitfalls. These challenges arise from the presence of physiologically elevated AFP levels, inconsistent data obtained from different laboratory tests, and the limited population of children with oncologic diseases that have been studied. To address these issues, it is essential to establish updated reference ranges for AFP in this specific age group. A population-based study involving a statistically representative group of patients could serve as a valuable solution for this purpose.

Hepatocellular Carcinoma with Inferior Vena Cava Thrombus in a Child

“…The level AFP of this patient was 1,439 ng/ml. In pediatric patients, HCC levels of AFP are high in 50-92% of cases (Czauderna et al, 2002;Głowska-Ciemny et al, 2023). In this case, the diagnosis of HCC was established based on history of chronic hepatitis B with HbsAg positive.…”

A case of pancreatoblastoma in a child with Simpson‐Golabi‐Behmel syndrome: Highlighting the importance of alpha fetoprotein monitoring

“…This has been debated for children with Beckwith-Wiedemann syndrome (BWS) 2,6 ; however, most concerns raised about routine AFP surveillance are applicable to SGBS as well. 9 European guidelines for hepatoblastoma screening in BWS highlight challenges with AFP test interpretation, lack of precise reference ranges (AFP levels are increased in a number of genetic disorders, [10][11][12][13][14][15] with established reference range only for BWS), 10 the invasiveness of frequent blood draws, and unproven utility compared with imaging. 7,8 In contrast, North American guidelines argue that AFP elevation may precede detection of a mass on imaging, leading to a more timely diagnosis, 16 lower stage, and improved prognosis.…”

Alpha-fetoprotein level in fetuses, infants, and children with ovarian masses: a literature review

“…In many studies, confirmation of AFP as a useful marker of various pathologies could be found. In clinical practice, AFP is used as a tumor and gestational marker; however, more and more research studies have indicated a relationship between AFP levels and ovarian masses ( 1 , 2 ).…”