Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome: A Case Study Including DNA Ploidy Profiles of Tumor and Adrenal Cytomegaly

Orozco, Roberto; Ja, McBride; Be, Favara; Steele, Ann; Sj, Brown; Steele, Peter

doi:10.3109/15513819109064749

Cited by 21 publications

(6 citation statements)

References 13 publications

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“…Its association with BWS is well known but, besides the description of two cases with a prenatal diagnosis of hepatic tumor [9,14,21], we found no other detailed descriptions of such a precocious occurrence and rapid growth of a hepatoblastoma in a BWS newborn. The high cancer risk motivates the tumor surveillance protocol aimed at a precocious detection of nephro-and hepatoblastomas.…”

Section: Discussionmentioning

confidence: 67%

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Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

et al. 2011

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Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone of the tumor surveillance for its early detection. In this report, we describe the outstanding case of a Beckwith-Wiedemann syndrome (BWS) newborn with severe phenotype and paternal chromosome 11 uniparental disomy (UPD11) associated with a high tumor risk. Based on the clinical picture and previous reports, a close monitoring of αFP was commenced. The marker was normal immediately after birth, but rapidly raised in 20 days, leading to the diagnosis of an extremely aggressive hepatoblastoma. The latter was successfully treated with pre-surgical reductive chemotherapy, gross total mass resection, and subsequent chemotherapy. Based on this observation, the tumor surveillance routinely suggested every 3 months should be more intense and with closer time intervals in newborns with severe BWS phenotype. We suggest monitoring neonatal αFP every 20 days in such cases.

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Section: Discussionmentioning

confidence: 67%

“…More than 90% of hebatoblastomas occur before the fourth year of life [14]. Its association with BWS is well known but, besides the description of two cases with a prenatal diagnosis of hepatic tumor [9,14,21], we found no other detailed descriptions of such a precocious occurrence and rapid growth of a hepatoblastoma in a BWS newborn.…”

Section: Discussionmentioning

confidence: 86%

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

et al. 2011

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“…[1][2][3][4] A review of the scientific literature indicates a significant association between hepatoblastoma and certain conditions such as Beckwith-Wiedemann syndrome, familial adenomatous polyposis coli, trisomy 18, and fetal alcohol syndrome. [5][6][7][8] Alpha-fetoprotein (AFP), liver imaging including ultrasound (U/S), computerized tomography (CT), or magnetic resonance imaging (MRI) are all well-described screening tools for hepatoblastoma, antenatally, during the neonatal period, and in infancy and early childhood. However, the sensitivity and specificity of these diagnostic tests is limited and the results are not always conclusive, especially in the early diagnosis of congenital hepatoblastoma.…”

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confidence: 99%

Neonatal Hepatoblastoma: Two Cases Posing a Diagnostic Dilemma, with a Review of the Literature

Sallam¹,

Paes²,

Bourgeois³

2005

Am J Perinatol

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Hepatoblastoma accounts for less than 1% of all pediatric malignancies. However, it remains the most common malignant tumor of the liver in newborns. Less than 10% of hepatoblastoma cases are diagnosed in the neonatal period. The diagnosis can be very difficult due to the wide spectrum of presentation and differences in the size of the lesion at the time of detection either antenatally or during an infant's neonatal course. In this review, we describe the current investigations used to establish the diagnosis of congenital hepatoblastoma and the role of a nuclear red cell scan as an additional strategy in the evaluation of this malignant condition. The report uses two cases of neonatal hepatoblastoma to highlight both the clinical and pathologic findings, and the problems encountered in the evaluation of this disorder.

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“…The Beckwith-Wiedemann syndrome, a congenital overgrowth disorder characterized by a high risk of development of childhood tumors, is also distinguished by a high incidence of adrenocortical carcinoma (47). This syndrome, which is associated with overproduction of insulin-like growth factor II or loss of the cyclin-dependent kinase inhibitor p57 KIP2 , is often accompanied by nonneoplastic enlargement of the adrenal gland caused by cytomegalic hyperplasia of the fetal cortex (34). The majority of adrenocortical cancers in children, however, occur sporadically with no defined underlying disorder.…”

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confidence: 99%

Activin Induces x-Zone Apoptosis That Inhibits Luteinizing Hormone-Dependent Adrenocortical Tumor Formation in Inhibin-Deficient Mice

Beuschlein

Looyenga

Bleasdale

et al. 2003

Molecular and Cellular Biology

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Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome: A Case Study Including DNA Ploidy Profiles of Tumor and Adrenal Cytomegaly

Abstract: A case of fatal congenital hepatoblastoma is described in which the autopsy provided the first evidence of Beckwith-Wiedemann syndrome. Aneuploid quantitative DNA patterns were found by image analysis of the tumor and the cytomegalic adrenal gland.

Cited by 21 publications

References 13 publications

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Neonatal Hepatoblastoma: Two Cases Posing a Diagnostic Dilemma, with a Review of the Literature

Activin Induces x-Zone Apoptosis That Inhibits Luteinizing Hormone-Dependent Adrenocortical Tumor Formation in Inhibin-Deficient Mice

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