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pancreatoblastoma

 

Cytogenetics: #7889500#

-  add(1)(q42)
-  t(13;22)(q10;q10) (#7889500#)
-  t(13;13)(q10;q10), i(6p)(p10), and del(1) (#7889500#)

Molecular biology

-  11p LOH (86%) (#12116082#, #11696422#)
-  IGF2 overexpression (#12116082#)

-  activating mutations of the beta-catenin gene CTNNB1 (67%) (#11696422#)

-  germline truncating mutation combined with loss of the wild-type allele in familial adenomatous polyposis-associated pancreatoblastoma (#11696422#)

Predisposition

-  Beckwith-Wiedemann syndrome
-  familial adenomatous polyposis (FAP)

References

-  Klimstra DS, Wenig BM, Adair CF, Heffess CS. Pancreatoblastoma. A clinicopathologic study and review of the literature. Am J Surg Pathol. 1995 Dec;19(12):1371-89. PMID: #7503360#



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