期刊
FRONTIERS IN ONCOLOGY
卷 11, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fonc.2021.564506
关键词
pancreatoblastoma; adult; genomics; chemotherapy-oncology; Wnt/beta-catenin
类别
Pancreatoblastomas, uncommon tumors typically found in children, were observed in two young women with metastases. Treatment with the FOLFIRINOX regimen resulted in disease control in one case and partial response in the other, improving the general status of both patients. High-throughput sequencing of the tumors revealed alterations in the Wnt/beta-catenin pathway, including a mutation in CTNNB1 in one case and a homozygous loss associated with breakage targeting APC in the second case.
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/beta-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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