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与 SPINK-1 基因突变相关的遗传性胰腺炎。是否会增加患胰腺癌的风险?

Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?

机构信息

Hospital Universitario Severo Ochoa, Leganes, Madrid, Spain.

Hospital Universitario del Henares, Coslada, Madrid, Spain.

出版信息

J Gastrointest Cancer. 2023 Mar;54(1):268-269. doi: 10.1007/s12029-021-00729-4. Epub 2021 Nov 22.

Abstract

It is thought that many of the idiopathic pancreatitis could have a genetic base. Approximately 50% of them correspond to CFTR (cystic fibrosis transmembrane conductance regulator gene) and SPINK-1 (serine protease inhibitor Kazal type 1) mutations. A recent study compares patients with acute pancreatitis and SPINK-1 mutation with patients with idiopathic acute pancreatitis. The study highlights a 12-fold increased risk of developing pancreatic cancer with SPINK-1 mutation versus the control group. Nonetheless, authors conclude that only specific pN34s mutation is related to pancreatic cancer. This relation is controversial, and international consensus guidelines for the follow-up in chronic pancreatitis with pancreatic cancer still do not recommend follow-up in SPINK-1 p. N34S mutation. We believe that developing prospective studies in which subgroups of patients with SPINK-1 mutation benefit from closer follow-ups would be necessary.

摘要

据认为,许多特发性胰腺炎可能有遗传基础。其中约 50%与 CFTR(囊性纤维化跨膜电导调节因子基因)和 SPINK-1(丝氨酸蛋白酶抑制剂 Kazal 型 1)突变有关。最近的一项研究比较了急性胰腺炎和 SPINK-1 突变患者与特发性急性胰腺炎患者。该研究强调了 SPINK-1 突变患者发生胰腺癌的风险比对照组增加了 12 倍。然而,作者得出结论,只有特定的 pN34s 突变与胰腺癌有关。这种关系存在争议,国际慢性胰腺炎伴胰腺癌随访指南仍不建议对 SPINK-1 p.N34S 突变进行随访。我们认为,有必要开展前瞻性研究,确定 SPINK-1 突变患者亚组是否从更密切的随访中获益。

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