Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.
Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.
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黑斑息肉综合征患者异常早期出现小肠腺癌。
DOI：
10.1097/mph.0b013e318282db11
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Thompson,PatrickA
中科院分区：
文献类型：
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作者：
Wangler,MichaelF;Chavan,Rishikesh;Hicks,MJohn;Nuchtern,JedG;Hegde,Madhuri;Plon,SharonE;Thompson,PatrickA
Peutz-Jeghers综合征（PJS）是一种常染色体显性遗传的癌症易感综合征，其特征在于黑色素斑和错构瘤性息肉。在儿科PJS人群中进行小肠监测并不是为了识别小肠恶性肿瘤，因为小肠恶性肿瘤被认为是在成年期出现的。一个13岁的男孩提出了铅点肠套叠，需要紧急手术切除。粘液腺癌是由息肉内的高度异型增生引起的。根据这些发现和粘膜色素沉着，他被诊断为PJS。DNA测序结果显示为杂合子c。921-1G> T STK 11突变。该病例是PJS中最早发生的小肠癌，这是一项与监测指南相关的观察结果。PJS是一种常染色体显性遗传的癌症易感综合征，其特征是黑色素斑、错构瘤性息肉和癌症风险增加。[1]自从英国医生康纳（Connor）和哈钦森（Hutchinson）报道了“哈钦森双胞胎”以来，人们就在临床上知道了嘴唇上的不寻常色素沉着及其遗传性质。[1]然而，当这对双胞胎中的一个随后死于肠梗阻，另一个死于乳腺癌时，它与癌症风险的关系就被提出了。1949年，Jeghers等提出，一个单一的多效性基因可能是这种癌症易感综合征的原因。PJS的诊断标准是基于临床表现，需要存在错构瘤和以下两种情况：（1）PJS家族史;（2）粘膜皮肤色素沉着过度;或（3）小肠息肉病。1 PJS导致危及生命的并发症，包括由于息肉和一系列实体瘤的存在而导致的导联点肠套叠。
Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic macules and hamartomatous polyps. Small-bowel surveillance in the pediatric PJS population is not designed to identify small-bowel malignancy, which is thought to arise in adulthood. A 13-year-old boy presented with lead-point intussusception, requiring emergent surgical resection. A mucinous adenocarcinoma was found arising from high-grade dysplasia within a polyp. On the basis of these findings and mucosal pigmentation, he was diagnosed with PJS. DNA sequencing revealed a heterozygous c. 921-1G> T STK11 mutation. This case is the earliest onset of small-bowel carcinoma in PJS, an observation relevant to surveillance guidelines.BACKGROUNDPeutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic pigmented macules, hamartomatous polyps, and an increased risk of cancer. 1 The unusual pigmentation on the lips and its inherited nature has been clinically known since the report of “Hutchinson’s twins” by British physicians Connor and Hutchinson, a finding which was assumed to be a curiosity. 1 However, its relationship to cancer risk was suggested when one of these twins subsequently died of intestinal obstruction and the other of breast cancer. In 1949, Jeghers et al 2 proposed that a single pleiotropic gene was likely responsible for this cancer predisposition syndrome. The diagnostic criteria of PJS are based on the clinical findings and require the presence of hamartomas and 2 of the following:(1) family history of PJS;(2) mucocutaneous hyperpigmentation; or (3) small-bowel polyposis. 1 PJS leads to life-threatening complications including lead-point intussusception because of the presence of the polyps and an array of solid tumors.