Serum alpha fetoprotein levels in Fanconi anaemia

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

“…Regarding the source of elevated AFP in patients, there is uncertainty. Studies by Salem et al and Blanche et al demonstrated significantly higher AFP levels in patients with FANCD1/BRCA2 mutations compared to other types of mutations [36,38]. Aslan et al propose that impaired postnatal suppression of the AFP gene and/or a shift in production from AFP to albumin may be contributing factors [35].…”

“…In this disease, AFP levels are elevated from birth, remain constant, and are independent of concurrent liver conditions and androgen treatment (originally, AFP measurement was used to detect liver adenomas resulting from androgen treatment). Studies have shown that other bone marrow disorders with a genetic basis, such as Blackfan-Diamond syndrome, Shwachman-Diamond anemia, or congenital dyskeratosis congenital, exhibit normal AFP levels [36]. Until recently, AFP was used as a simple diagnostic tool for Fanconi anemia (FA), with studies indicating varied sensitivity: 93% sensitivity and 100% specificity (Cassinat et al, 2000) [37]; 46% sensitivity (Aslan et al, 2002) [19]; and 71% sensitivity (Salem et al, 2019) [17].…”

“…Until recently, AFP was used as a simple diagnostic tool for Fanconi anemia (FA), with studies indicating varied sensitivity: 93% sensitivity and 100% specificity (Cassinat et al, 2000) [37]; 46% sensitivity (Aslan et al, 2002) [19]; and 71% sensitivity (Salem et al, 2019) [17]. However, a recent study by Alter et al suggests a sensitivity of approximately 25%, although their study included a group of FA patients with a higher median age [36]. The primary treatment for FA is bone marrow transplantation, which does not completely normalize AFP levels, but may slightly reduce them [29,30,38].…”

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.…”