Congenital Pancreatoblastoma in Beckwith Wiedemann Syndrome

Abstract

We present a male newborn (weight 4000 g) who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia. Clinical examination disclosed somatic hemihypertrophy (left side), a large umbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy. Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet cell hyperplasia of the pancreas, and persistent glomerulogenesis. The tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas. Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong relationship between both conditions.

Nonductal neoplasms of the pancreas

“…Some pancreatoblastomas have occurred in patients with Beckwith-Weidemann syndrome, and these cases were congenital and cystic. [147][148][149][150] A single case was reported in an adult patient with Familial Adenomatous Polyposis. 151 Presenting symptoms are usually nonspecific; jaundice is uncommon, and the paraneoplastic syndromes of PENs and acinar cell carcinoma have not been reported.…”

Diagnosis, treatment and outcome of pancreatoblastoma

“…The median age of presentation was 5 years and the oldest reported patient was a 68-year-old woman [57]. Only 6 neonates with pancreatoblastoma have been reported [10,25,45,52,75,76]. The age distribution of pancreatic neoplasms in childhood is bimodal, with one peak before 5 years mainly affecting boys and corresponding to pancreatoblastoma and the other peak in the teens mainly affecting girls and corresponding to solid pseudopapillary tumour [72].…”

“…The pancreatic head was the site of origin in 48 (39%) patients [7-10, 13, 20-22, 24, 27, 29, 31, 33, 34, 38, 42, 45, 49, 54, 56, 58, 62-64, 66, 76, 80, 85, 87-90, 92, 93], the head and body in 5 (4%) [5,65,70,80], the body in 16 (13%) [10,16,21,24,25,38,52,63,64,71,88,93], the body and tail in 16 (13%) [14, 18, 24, Histology showing recurrent pancreatoblastoma with acinar formation in the patient presenting to the Royal Liverpool University Hospital. 32,37,47,48,53,57,63,68,79,81], the tail in 29 (24%) [10,20,24,26,35,36,38,43,44,46,47,50,56,59,61,63,67,75,77,78] and whole organ involvement in 9 (7%) patients …”

“…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].…”

Beckwith-Wiedemann Syndrome, Pancreatoblastoma, and the Wnt Signaling Pathway

“…The molecular association between pancreatoblastoma and other embryonal tumors such as hepatoblastoma and Wilm's tumor has been previously suggested by the presentation of Beckwith-Wiedemann in children with these tumors. [2][3][4] However, the study of Abraham et al 1 did not describe any case of pancreatoblastoma presenting with Beckwith-Wiedemann syndrome.…”