Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith–Wiedemann syndrome

Abstract

Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith-Wiedemann syndrome. Prenatal and post-natal features and management of this very rare tumour are discussed. Molecular investigation disclosed a mosaic paternal 11p15 uniparental disomy in the tumoral cells. The prognosis of a congenital pancreatoblastoma is good if complete surgical excision is achieved. However, the association with Beckwith-Wiedemann syndrome requires a prolonged follow-up because of the increased risk of developing malignant tumours.

Diagnosis, treatment and outcome of pancreatoblastoma

“…Pancreatoblastoma has been reported in 4 infants with Beckwith-Wiedemann syndrome [25,52,74,75], which presents with visceromegaly and macroglossia and is usually associated with abnormalities of chromosome 11p15.5, characterised by epimutations affecting both transcription and methylation of imprinted genes [60]. All four pancreatoblastomas were partially or totally cystic.…”

“…One patient with pancreatoblastoma was identified in a patient with familial adenomatosis polyposis [12] and another 4 patients in association with the Beckwith-Wiedemann syndrome [25,52,74,75].…”

Pancreatoblastoma – A Rare Pediatric Pancreatic Tumor.

“…Pancreatoblastoma contains pluripotent cells capable of differentiating along the pathway of all three pancreatic cell types. Molecular investigation has disclosed a mosaic paternal 11p15 uniparental disomy in the tumor cells of pancreatoblastoma, [2]. Recently genetic alterations also have been characterised and the commonest change is allelic loss of 11p, [3] .…”

Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature

“…Allelic loss on chromosome 11p is the most common genetic alteration in PB, present in 86% [21]. Loss of heterozygote of 11p, which includes 11p15 BWG gene region and IGF2, restricted to the cells of the limb showing hypertrophy [19], has been described in one BWS-associated PB and a mosaic paternal 11p15 uniparental disomy in the tumoral cells in another case [22].…”

“…Mean age at diagnosis is 4.3 years, ranging from 3 weeks to 8 years of age. It may be occasionally congenital [22][23][24][25][26]. Patients usually present with an upper abdominal mass and either no symptoms or with nonspecific complaints including epigastric pain (40%), failure to thrive (20%), and vomiting.…”