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Case report: Two cases of metastatic pancreatoblastoma in adults: efficacy of Folfirinox and implication of the wnt/β-catenin pathway in genomic analysis

Abstract : Pancreatoblastomas are unfrequent tumors usually found in children. We report two cases of metastatic pancreatoblastomas observed in young women. A systemic chemotherapy (FOLFIRINOX regimen) was associated with a disease control in one case and a partial response in the second with an improvement of general status for both. A high-throughput sequencing of the tumor described in both cases alteration in the Wnt/β-catenin pathway: a mutation in CTNNB1 (exon 3, c.110C>G, p.S37C, reported as a hotspot in COSMIC) in one case and a homozygous loss associated with breakage targeting APC (5q22.2) in the second.
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https://hal-amu.archives-ouvertes.fr/hal-03623119
Contributor : François Bertucci Connect in order to contact the contributor
Submitted on : Tuesday, March 29, 2022 - 2:48:53 PM
Last modification on : Tuesday, April 12, 2022 - 4:12:13 PM

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Jean-Luc Raoul, Sandrine Oziel-Taieb, Thierry Lecomte, José Adelaide, Arnaud Guille, et al.. Case report: Two cases of metastatic pancreatoblastoma in adults: efficacy of Folfirinox and implication of the wnt/β-catenin pathway in genomic analysis. Frontiers in Oncology, Frontiers, 2021, 11, pp.1-8. ⟨10.3389/fonc.2021.564506⟩. ⟨hal-03623119⟩

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