病例报告：两例成人转移性胰腺母细胞瘤：Folfirinox方案的疗效及Wnt/β-连环蛋白通路在基因组分析中的意义
Case Report: Two Cases of Metastatic Pancreatoblastoma in Adults: Efficacy of Folfirinox and Implication of the Wnt/β-Catenin Pathway in Genomic Analysis.
作者信息
Raoul Jean-Luc, Oziel-Taieb Sandrine, Lecomte Thierry, Adelaide José, Guille Arnaud, Chaffanet Max, Poizat Flora, Heymann Marie-Françoise, Barbier Louise, Bertucci François
机构信息
Department of Medical Oncology, Institut de Cancérologie de l'Ouest, Saint-Herblain, France.
Department of Medical Oncology, Institut Paoli-Calmettes, Marseille, France.
出版信息
Front Oncol. 2021 Mar 16;11:564506. doi: 10.3389/fonc.2021.564506. eCollection 2021.
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 (exon 3, c.110C>G, p.S37C, reported as a hotspot in COSMIC) in one case and a homozygous loss associated with breakage targeting (5q22.2) in the second.
胰腺母细胞瘤是一种罕见的肿瘤，通常在儿童中发现。我们报告了两例在年轻女性中观察到的转移性胰腺母细胞瘤病例。在其中一例中，全身化疗（FOLFIRINOX方案）实现了疾病控制，另一例则出现部分缓解，且两例患者的一般状况均有所改善。对这两例病例中所描述肿瘤进行的高通量测序显示，Wnt/β-连环蛋白信号通路存在改变：一例发生了（外显子3，c.110C>G，p.S37C，在COSMIC中被报告为热点突变）突变，另一例则出现与靶向（5q22.2）断裂相关的纯合缺失。
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