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纪念保罗·格罗斯、奥尔德雷德·沃辛和亨利·林奇在描述和识别结直肠癌遗传中的历史贡献的综述。

A REVIEW TO HONOR THE HISTORICAL CONTRIBUTIONS OF PAULINE GROSS, ALDRED WARTHIN, AND HENRY LYNCH IN THE DESCRIPTION AND RECOGNITION OF INHERITANCE IN COLORECTAL CANCER.

机构信息

Universidade de São Paulo, Faculty of Medicine, Gastroenterology Department, Colorectal Surgery Division - São Paulo (SP), Brazil.

AdventHealth Central Florida, Research Fellow of Colorectal Surgery - Sanford, Florida, USA.

出版信息

Arq Bras Cir Dig. 2024 Jul 1;37:e1812. doi: 10.1590/0102-6720202400019e1812. eCollection 2024.

DOI:10.1590/0102-6720202400019e1812
PMID:38958348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11216406/
Abstract

The present manuscript aimed to review the historical development and most important contributions regarding Lynch Syndrome since its first description, more than a century ago. In 1895, a reputed pathologist from Michigan University, Dr. Aldred Scott Warthin, got intrigued by the family history of a local seamstress called Pauline Gross. According to her prevision, she would present an early death due to cancer, which actually happened (from the uterus). Historically, her family was designated "Family G", comprising a group recognized as the longest and most detailed cancer genealogy that has ever been studied. Warthin concluded that its members had genetic susceptibility for cancer, and they are, nowadays, considered the first reported Lynch Syndrome family. At that time, however, the medical cancer community was far less receptive to the association between heredity and cancer, despite the description of other families with similar heredograms. Unfortunately, this historical fact remained somewhat dormant until another investigator inaugurated a new era in the understanding of family cancer clusters. After reports and studies from this family and many others, the condition initially called Cancer Family Syndrome was changed to the eponym Lynch Syndrome. This was a recognition of the extensive and dedicated work developed by Dr. Henry Lynch in describing various characteristics of the disease, and his efforts to establish the correct recommendations for its diagnosis and treatment. Although the future announces there is still far to go for a complete understanding of Lynch Syndrome, the remarkable contributions of Pauline's intuition, Warthin's perseverance, and Lynch's work consistency must never be forgotten by those who already have or will still benefit from this knowledge.

摘要

本文旨在回顾自一个多世纪前首次描述林奇综合征以来的历史发展和最重要的贡献。1895 年,密歇根大学的一位著名病理学家 Aldred Scott Warthin 博士对当地一名女裁缝 Pauline Gross 的家族史产生了兴趣。根据她的预测,她会因癌症而早逝,而这实际上确实发生了(来自子宫)。从历史上看,她的家族被称为“G 家族”,由一组被认为是有史以来研究过的最长、最详细的癌症家族史的人组成。Warthin 得出结论,其成员具有癌症遗传易感性,现在被认为是第一个报道的林奇综合征家族。然而,当时的医学癌症界对遗传与癌症之间的联系远不那么接受,尽管已经描述了其他具有类似遗传图谱的家族。不幸的是,这一历史事实在另一位研究人员开创了家族癌症群集理解的新时代之前一直处于休眠状态。在这个家族和其他许多家族的报告和研究之后,最初被称为癌症家族综合征的病症更改为林奇综合征。这是对 Henry Lynch 博士在描述疾病的各种特征以及他为其诊断和治疗制定正确建议方面所做的广泛而专注的工作的认可。尽管未来仍有很长的路要走才能完全理解林奇综合征,但我们永远不能忘记 Pauline 的直觉、Warthin 的毅力和 Lynch 的工作一致性的卓越贡献,那些已经或仍将从这些知识中受益的人。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c7c7/11216406/20e4b0da51df/0102-6720-abcd-37-e1812-fg06.jpg
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Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions.结直肠癌活检的林奇综合征泛肿瘤筛查会影响手术治疗决策。
Fam Cancer. 2023 Jan;22(1):71-76. doi: 10.1007/s10689-022-00302-3. Epub 2022 Jun 23.
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Aldred Scott Warthin: Ann Arbor's Erudite, Outspoken, and Academically Transformative Early 20th Century Pathologist.
Arq Bras Cir Dig. 2025 Feb 10;37:e1869. doi: 10.1590/0102-6720202400075e1869. eCollection 2025.
奥尔德雷德·斯科特·沃辛:安阿伯博学、直言不讳、极具学术影响力的 20 世纪早期病理学家。
Arch Pathol Lab Med. 2021 Oct 1;145(10):1297-1306. doi: 10.5858/arpa.2020-0474-HP.
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On the road with Henry Lynch.与亨利·林奇同行。
Hered Cancer Clin Pract. 2020 Jan 27;18:2. doi: 10.1186/s13053-020-0134-4. eCollection 2020.
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Henry Lynch and the Power of Observation in Individual Patients.亨利·林奇与个体患者中的观察之力。
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Somatic Mutation Theory - Why it's Wrong for Most Cancers.体细胞突变理论——为何它不适用于大多数癌症。
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Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome.临床怀疑林奇综合征的接受手术治疗的结直肠癌患者中DNA修复基因的熟练度和微卫星不稳定性
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A Historical and Contextual Argument for Keeping the Name of a Major Syndrome.保留一种主要综合征名称的历史与背景论证
Dis Colon Rectum. 2015 Oct;58(10):1017-8. doi: 10.1097/DCR.0000000000000445.
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Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12.
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Defining HNPCC and Lynch syndrome: what's in a name?定义遗传性非息肉病性结直肠癌和林奇综合征:名称意味着什么?
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