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

Sullivan, Michael J.; Abraham, Susan C.; Hruban, Ralph H.

doi:10.1016/s0002-9440(10)62580-1

Cited by 30 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…121,122 Loss of this chromosome arm has also been reported in other embryonal neoplasms, suggesting the possibility of a common genetic pathway in embryonal neoplasms. 123 The majority of pancreatoblastomas have somatic alterations in the APC/β-catenin pathway, including activating mutations in CTNNB1 as well as inactivating mutations in APC .…”

Section: Pancreatoblastomamentioning

confidence: 88%

Pathology and Molecular Genetics of Pancreatic Neoplasms

2012

Self Cite

View full text Add to dashboard Cite

Cancer is fundamentally a genetic disease caused by the ac cumulation of somatic mutations in oncogenes and tumor suppressor genes. In the last decade, rapid advances in sequencing and bioinformatic technology led to an explosion in sequencing studies of cancer genomes, greatly expanding our knowledge of the genetic changes underlying a variety of tumor types. Several of these studies of cancer genomes have focused on pancreatic neoplasms, and cancers from the pancreas are some of the best characterized tumors at the genetic level. Pancreatic neoplasms encompass a wide array of clinical diseases, from benign cysts to deadly cancers, and the genetic alterations underlying neoplasms of the pancreas are similarly diverse. This new knowledge of pancreatic cancer genomes has deepened our understanding of tumorigenesis in the pancreas and has opened several promising new avenues for novel diagnostics and therapeutics.

show abstract

Section: Pancreatoblastomamentioning

confidence: 88%

Pathology and Molecular Genetics of Pancreatic Neoplasms

2012

Self Cite

View full text Add to dashboard Cite

show abstract

“…Loss of chromosome 11p (at the locus affected in Beckwith–Wiedemann syndrome) occurs in more than 80% of pancreatoblastomas—this loss of 11p has also been reported in other embryonal neoplasms (such as hepatoblastoma and Wilms tumor), suggesting the possibility of a common genetic pathway in embryonal tumors. 11,21–23 Although loss of 11p also occurs in almost 50% of acinar cell carcinomas, it is not clear whether this region is unique among the numerous regions recurrently lost in this tumor type. 12 Pancreatoblastomas also have frequent alterations of the APC-β-catenin pathway; unlike acinar cell carcinomas (which more frequently have inactivating APC mutations), pancreatoblastomas more frequently have activating CTNNB1 mutations, though mutations in both genes have been identified.…”

Section: Genetic Featuresmentioning

confidence: 99%

Pathology and genetics of pancreatic neoplasms with acinar differentiation

Wood

Klimstra

2014

Seminars in Diagnostic Pathology

View full text Add to dashboard Cite

Pancreatic neoplasms with acinar differentiation, including acinar cell carcinoma, pancreatoblastoma, and carcinomas with mixed differentiation, are distinctive pancreatic neoplasms with a poor prognosis. These neoplasms are clinically, pathologically, and genetically unique when compared to other more common pancreatic neoplasms. Most occur in adults, although pancreatoblastomas usually affect children under 10 years old. All of these neoplasms exhibit characteristic histologic features including a solid or acinar growth pattern, dense neoplastic cellularity, uniform nuclei with prominent nucleoli, and granular eosinophilic cytoplasm. Exocrine enzymes are detectable by immunohistochemistry and, for carcinomas with mixed differentiation, neuroendocrine or ductal lineage markers are also expressed. The genetic alterations of this family of neoplasms largely differ from conventional ductal adenocarcinomas, with only rare mutations in TP53, KRAS, and p16, but no single gene or neoplastic pathway is consistently altered in acinar neoplasms. Instead, there is striking genomic instability, and a subset of cases has mutations in the APC/β-catenin pathway, mutations in SMAD4, RAF gene family fusions, or microsatellite instability. Therapeutically targetable mutations are often present. This review summarizes the clinical and pathologic features of acinar neoplasms and reviews the current molecular data on these uncommon tumors.

show abstract

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum

Lee

Tung

Hwu

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later. She survived after partial excision of the tumor

show abstract

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

Cited by 30 publications

References 6 publications

Pathology and Molecular Genetics of Pancreatic Neoplasms

Pathology and Molecular Genetics of Pancreatic Neoplasms

Pathology and genetics of pancreatic neoplasms with acinar differentiation

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum

Contact Info

Product

Resources

About