当你缝…

I continue our annual focus on colorectal cancer by writing about a little-known physician who contributed greatly to the growth in knowledge over the past century of family patterns of cancer development. 如果你没听说过奥尔德雷德·斯科特·沃辛, a University of Michigan pathologist who worked in the early part of the 20th century, 你有很多同伴, 但它们可能不是耳朵, 鼻子, 喉部外科医生. Warthin managed to get his name attached to an uncommon tumor of the major salivary gland. 这是他今天出名的主要原因. He deserves more recognition for the largely unsung role he played in the early history of colorectal cancer genetics.

绝大多数癌症是零星发生的, meaning that they occur with seeming randomness within the general population. 这太简单化了, but it serves to distinguish a much smaller number of cancer cases that display a definite pattern of higher and more predictable occurrence within certain families. Roughly ten percent of all colorectal cancers cluster within families, and we can link an even smaller percentage of these cases to a proven inherited genetic change or mutation. 这些, the most common goes by the mouth-filling rubric of hereditary nonpolyposis colorectal cancer, mercifully abbreviated to HNPCC or often just called the 林奇 syndrome, 以博士命名. 亨利T. 林奇, the widely-acknowledged father of modern cancer genetics who updated and refined the available information about certain families with cancer clusters and identified a specific pattern of inheritance. 但也许，给予应有的信任. 林奇 himself gave in 1985, we should think about calling this condition the Warthin-林奇 syndrome.

和我一起回到1895年的安娜堡. Warthin plied his skills in the University of Michigan pathology laboratories, investigating the various causes of diseases that afflicted the good people of southeastern Michigan. 在那些日子, clothing came less frequently off the rack in large chain department stores and more often from local tailors and seamstresses. Dr. Warthin employed one such woman to keep his clothes in good repair. 那一年, she confided to him her concerns—and those of her family as a whole—that cancer seemed to occur with uncomfortable and mysterious frequency among her relatives. No one could fault her for worrying; indeed, 她这样做是对的, 因为她最终死于子宫内膜癌. 出于好奇,博士. Warthin performed an oft-underutilized clinical investigation by completing an extensive family history. Questions about disease within your extended family may seem nosy and the information can be difficult to obtain in detail, but often it conveys invaluable insight otherwise elusive. 按我们的标准，这位女裁缝出身于一个大家庭, 这可能有助于揭示问题, 10个兄弟姐妹中有一半得了癌症. 两姐妹得了子宫癌, 兄妹俩都得了胃癌, 其中一人患有一种不明确的“腹部”癌. 此外, descendants of these five persons themselves had multiple cancers, whereas none of the progeny of the five unaffected siblings developed the disease.

Dr. Warthin went back to his offices armed with this information. 许多年以后, 积累了更多的经验, he set out to examine records at the university hospital. He found about 1600 cases of malignant tumors in the span of years from 1895 to 1912. 这些病例中约有15%表现为家族型. In 1925, he updated his original findings from the family of the seamstress, documenting a remarkable increased incidence of cancers of the gastrointestinal tract and the uterus, as well as a younger-than-average age of onset for affected individuals. There were three particularly impressive cases in younger persons who presented for appendicitis care and were found instead to have advanced cancer involving the lower right colon.

哮喘突然夺去了医生的生命。. 沃辛1931年的生活. Colleagues published an update on the family of the seamstress (then known as “family G” because of their German heritage) with longer follow up of the various individuals within it, confirming the strong pattern of gastrointestinal cancers. 在一段时间没有进一步的进展之后. 林奇 picked up the threads of this investigation in the mid 1960s, even going so far as to arrange a “family G” reunion near Ann Arbor and accomplishing an extensively detailed genetic investigation on his guests. Of the more than 650 family members, 95 had developed cancer, chiefly of the colon and uterus. Dr. 林奇 discerned the dominant pattern of inheritance that characterizes this particular cancer syndrome. Further updates published in 2005 included specific information on one of the genetic mutations subsequently linked to the increased risk of cancer in affected persons, 回想起来，这确实是, 一直, 遗传疾病. It is now possible—and commonly done—to have blood testing to identify at-risk family members, who may then undergo more intensive screening or even have certain preventative procedures done.

I wrote in an earlier piece about the risk factors that should prompt screening for colorectal cancer. 当然, informing your health care provider of a suspicious family history imparts an important impetus to appropriate risk reduction intervention. 癌症总是这样的, early recognition and treatment produces the most favorable outcomes. 几乎可以说，一针及时省九针.