Elevations in serum alpha fetoprotein levels in patients with Fanconi anaemia

Serum alpha fetoprotein levels in Fanconi anaemia

“…We read with interest the recent report of alpha fetoprotein (AFP) in patients with Fanconi anaemia (FA) (Salem et al , ), in which 71% of 138 patients had an elevated level of AFP; similar to an earlier report of 93% of 61 patients (Cassinat et al , ); both higher than the 46% of 33 patients described by Aslan et al (). These three publications expressed the upper limits of normal with different units, kIU/l, IU/ml, and ug/l, but all were a value of 8.…”

“…We were puzzled by the high frequency of elevated AFP reported by others, and sought differences between our cohort and those of the others. The patients reported by Cassinat et al () had a median age of 13 years (range 1–53); those reported by Aslan et al () had a median of 10 years (range 1–28) and the Salem et al () cohort had a median of 5.1 years (range <1–43). The median age of 16 years (range 1–57) in our cohort was older than in the other studies, and there were 24 adults among the 51 patients, with only 2 patients below 4 years of age (1 and 3 years).…”

“…The Minnesota cohort also demonstrated elevated AFP in all 7 patients with FANCD1/BRCA2 , compared with 69% of those with other genotypes (Salem et al (); the P value for this is 0.18, and thus it may be premature to conclude that elevated AFP is diagnostic of FANCD1 / BRCA2 . Our one patient with this genotype did have elevated AFP, but not nearly as high and at a very young age (17.9 μg/l in our patient at age 1 year, compared with a range of 43.5–147 μg/l in the Minnesota group, in which the ages were not identified).…”

“…These three publications expressed the upper limits of normal with different units, kIU/l, IU/ml, and ug/l, but all were a value of 8. In addition, Salem et al () suggested that high AFP values were seen in patients who had higher levels of diepoxybutane (DEB)‐induced breaks per cell, and they observed that all 7 patients with mutations in FANCD1/BRCA2 had very high levels of AFP. Cassinat et al () had earlier demonstrated inter‐method discordance between 5 different immunoassays for AFP, identifying bona fide patients with FA with sensitivities ranging from 50% to 100%.…”

Persistently elevated alpha-fetoprotein associated with chronic hepatitis B during chemotherapy for malignant ovarian germ cell tumors: a case series and a review of the literature

“…Dieckmann et al reported approximately 2% of pure seminoma patients had a non-pathologic AFP elevation, and this proportion was not different from that of controlled patients with non-malignant urologic diseases [32]. In addition, AFP can be expressed in other malignancies, of which HCC is the most frequent, and some nontumor diseases, such as Fanconi anemia and ataxiatelangiectasia [39,40]. The concanavalin A and Lens culinaris agglutinin (LCA) affinity assays are two methods that have been reported to be used in determining the etiology of the AFP [29,30].…”