Frontiers in Oncology (Mar 2021)

Case Report: Two Cases of Metastatic Pancreatoblastoma in Adults: Efficacy of Folfirinox and Implication of the Wnt/β-Catenin Pathway in Genomic Analysis

  • Jean-Luc Raoul,
  • Sandrine Oziel-Taieb,
  • Thierry Lecomte,
  • José Adelaide,
  • Arnaud Guille,
  • Max Chaffanet,
  • Flora Poizat,
  • Marie-Françoise Heymann,
  • Louise Barbier,
  • François Bertucci,
  • François Bertucci

DOI
https://doi.org/10.3389/fonc.2021.564506
Journal volume & issue
Vol. 11

Abstract

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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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