Solid tumor screening recommendations in trisomy 18

Abstract

The purpose of this study was to determine whether trisomy 18 patients are at an increased risk of tumor development and require formal tumor screening recommendations. A literature search of trisomy 18 patients with reports of tumors or malignancies, and compilation of all previously reported as well as new unreported cases was performed. 67 patients with trisomy 18 were found to have documented malignancies. 44 patients had hepatoblastomas, 21 patients had Wilms tumors, one patient had a functional neurogenic neoplasia, and one patient had Hodgkins lymphoma. The increasing numbers of reported malignancies in patients with trisomy 18 supports the indication for an early screening process. Specific screening recommendations are outlined consisting of imaging exams and laboratory values performed at specific intervals.

Surveillance guidelines for children with trisomy 18

“…The most common tumor presenting in patients with trisomy 18 is hepatoblastoma (Bove et al, 1996;Dasouki & Barr, 1987;Farmakis et al, 2019;Maruyama et al, 2001;Satgé et al, 2016). Nearly 66% of malignancies present in trisomy 18 are hepatoblastoma (Farmakis et al, 2019). Presentation of these tumors ranges from 3 months to 10 years of age (Farmakis et al, 2019 (Kalish et al, 2017).…”

“…Nearly 66% of malignancies present in trisomy 18 are hepatoblastoma (Farmakis et al, 2019). Presentation of these tumors ranges from 3 months to 10 years of age (Farmakis et al, 2019 (Kalish et al, 2017). An MRI is then recommended if there are successive increases in AFP to ensure proper diagnosis (Kalish et al, 2017).…”

Interdisciplinary care of children with trisomy 13 and 18

“…The increased risk of hepatoblastoma in children with trisomy 18 prompted the recommendation for baseline serum alpha fetoprotein (AFP) levels for newborns and serial AFP levels followed every 3 months until age 3 months (Farmakis, Barnes, Carey, & Braddock, 2019). Complete abdominal ultrasounds should be performed every 3 months until 4 years of age for children with trisomy 18 due to the higher incidence of hepatoblastoma and Wilms tumor (Farmakis et al, 2019). Given the variety of tumors in children with trisomy 13 and similar incidence to the general population, there are currently no cancer screening recommendations for children with trisomy 13.…”

Molecular Mechanisms of Hepatoblastoma

“…3 Although most often HB is sporadic, occasionally it can be associated with other conditions, including Beckwith-Wiedemann syndrome, 4 familial adenomatous polyposis, 5 isolated hemihyperplasia, 6 type 1a glycogen storage disease, 7 and trisomy 18. 8 These associations emphasize the importance of an extended genetic evaluation in children with HB, and a careful tumor screening in patients at risk of HB. In this regard, it remains unclear whether low birth weight (i.e., less than 2,500 g) represents a higher risk of developing HB or is a marker of other exposures.…”