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Review
. 2023 Dec 27;15(1):44.
doi: 10.3390/genes15010044.

Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case

Andrea Remo  1 , Silvia Negro  2 , Riccardo Quoc Bao  2 , Edoardo d'Angelo  2 , Rita Alaggio  3 , Gino Crivellari  4 , Isabella Mammi  4 , Rossana Intini  5 , Francesca Bergamo  5 , Matteo Fassan  6 , Marco Agostini  2 , Marco Vitellaro  7 , Salvatore Pucciarelli  2 , Emanuele Damiano Luca Urso  2
Affiliations
Review

Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case

Andrea Remo et al. Genes (Basel). .

Abstract

Background: Adult pancreatoblastoma (PBL) is a rare pancreatic malignancy, with recent evidence suggesting a possible link to familial adenomatous polyposis (FAP). This study aims to review the latest evidence and explore a possible association between adult PBL and FAP.

Methods: Two independent literature reviews were conducted: (1) on PBL and FAP, and (2) on PBL in the adult population not diagnosed with FAP.

Results: Out of 26 articles on PBL and FAP screened, 5 were selected for systematic review, including 1 additional case. We identified eight FAP-related PBL cases, with a median age of 40 (IQR: 34-50). Of these, seven (87%) occurred in adults. We found 65 cases of adult PBL not FAP-related; thus, 7 out of 65 cases (10.7%) of adult PBL reported in the literature are associated with a clinical diagnosis of FAP or were carriers of APC germline pathogenic variants (GPVs).

Conclusion: Data suggest a non-random association between adult PBL and FAP. Further research is essential to optimise surveillance protocols and develop more effective treatment strategies.

Keywords: familial adenomatous polyposis; inherited tumours syndromes; pancreatoblastoma.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
CT scan of the case report.
Figure 2
Figure 2
(A). Microscopic examination revealed a hypercellular neoplasm with a solid and acinar growth pattern admixed with pale/roundish areas with a whorled aspect, representing the so-called squamoid nestes (hematoxylin-eosin). (B). The neoplasm showed strong and diffuse cytoplasmic and nuclear β-catenin staining.
Figure 3
Figure 3
Selection of studies for review “PBL and FAP”.
See this image and copyright information in PMC

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