林奇综合征相关的结直肠癌研究进展
Research Progress on Colorectal Cancer Associated with Lynch Syndrome

林奇综合征(Lynch syndrome)是一种罕见的遗传性癌症易感综合征，其特征是易患多种癌症，包括消化道、泌尿道、肾脏、子宫内膜、卵巢、脑和前列腺的肿瘤、以及皮脂腺皮肤肿瘤，具体取决于所涉及的基因。肿瘤可能发生在任何年龄段，但往往发生在年轻人，具有发病早、多原发、遗传性等特点。遗传方式是常染色体显性遗传。结直肠癌(Colorectal Cancer, CRC)，又称大肠癌，是指大肠上皮来源的原发性恶性肿瘤，包括结肠癌和直肠癌，是癌症死亡的第二大原因。其中遗传性CRC占所有CRC患者的5%~6%，根据结直肠内息肉的数量，遗传性CRC通常被分为非息肉病性(包括无息肉或少量息肉)和息肉病性(通常数十，数百或更多)，前者包括Lynch综合征、家族性CRCX型，后者则包括家族性腺瘤性息肉病、MUTYH相关性息肉病、黑斑息肉综合征和幼年性息肉病综合征等。Lynch综合征，约占所有CRC患者中的2%~4%，是最常见的遗传性CRC综合征，以常染色体显性遗传，可引起结直肠及其他部位(如子宫内膜、卵巢、胃等)发生肿瘤的风险显著高于一般风险人群。遗传性CRC的尽早诊断并寻找血缘亲属中尚未发病的突变携带者，可以帮助临床医师及时采取干预措施，从而改善遗传性CRC患者及其家庭的预后。
Lynch syndrome is a rare hereditary cancer predisposition syndrome characterized by a high susceptibility to multiple cancers, including tumors of the digestive tract, urinary tract, kidneys, endometrium, ovaries, brain, and prostate, as well as sebaceous skin tumors, depending on the involved genes. Tumors can occur at any age but often in young people, with early onset, multiple primary tumors, and hereditary characteristics. The mode of inheritance is autosomal dominant. Colorectal cancer (CRC), also known as large intestine cancer, refers to primary malignant tumors derived from the epithelium of the large intestine, including colon cancer and rectal cancer, and is the second leading cause of cancer death. Among them, hereditary CRC accounts for 5% to 6% of all CRC patients. According to the number of polyps in the colorectum, hereditary CRC is usually divided into non-polyposis (including no polyps or a small number of polyps) and polyposis (usually dozens, hundreds or more), the former including Lynch syndrome and familial CRCX type, and the latter including familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome, etc. Lynch syndrome, accounting for 2% to 4% of all CRC patients, is the most common hereditary CRC syndrome, which is inherited in an autosomal dominant manner and significantly increases the risk of developing tumors in the colorectum and other sites (such as endometrium, ovaries, stomach, etc.) compared to the general population. Early diagnosis of hereditary CRC and identification of asymptomatic mutation carriers among blood relatives can help clinicians take timely intervention measures, thereby improving the prognosis of hereditary CRC patients and their families.