Peutz-Jephers综合征8例临床分析

Peutz-Jephers综合征又称黑斑息肉综合征,临床表现为皮肤黏膜黑色素斑及胃肠道多发性息肉,息肉组织学表现为错构瘤.这是一种罕见的常染色体显性遗传性疾病.     

1例黑斑息肉综合征的诊断及治疗

目的 总结黑斑息肉综合征（PJS）的有效诊断及治疗方法,为该病的临床诊治提供参考。方法 对1例PJS患者的临床资料进行回顾性分析。结果 该患者为16岁男性,因“腹痛伴黏液血便2 d”入院。患者有典型口唇及鼻周黑斑,以肠套叠为主要首诊症状,接受急诊剖腹探查术并切除病变段结肠,病理提示错构瘤性息肉,基因检测证实存在丝/苏氨酸蛋白激酶（STK11）突变,本例患者排除阳性家族史。结论 皮肤黏膜黑斑、胃肠道多发性息肉及家族遗传史可诊断为PJS,定期内镜监测胃肠道息肉状况有助于减少该类患者急腹症的发生及降低息肉癌变风险,内镜下息肉切除和（或）外科手术切除为其有效治疗方法。     

敬告读者

黑斑息肉综合征(PJS)是一种少见的染色体遗传疾病，以消化道息肉和皮肤粘膜、肢端色素沉着为基本特征。约50％病人20岁以前出现症状，表现为腹痛、肠套叠及胃肠出血。2002年3月我院收治黑斑息肉综合征并肠套叠1例，经积极治疗和护理病人痊愈出院。现报告如下。     

黑斑息肉综合征患者临床特点调查分析

黑斑息肉综合征,又称为Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS),是以口唇黏膜及四肢末梢皮肤色素沉着、胃肠道多发息肉为临床特征的常染色体显性遗传病.我们回顾性分析了1994年至2009年国内报告的155例PJS病例.现将调查分析结果汇报如下.     

Peutz-Jeghers综合征小肠息肉的诊治技术现状和药物治疗进展

Peutz-Jeghers综合征具有特征性的皮肤、黏膜黑斑和胃肠道多发息肉,本征的息肉最常出现在小肠,可导致消化道出血、肠梗阻、肠套叠、癌变等并发症,常需手术治疗。对小肠息肉的及时检出和治疗,不仅有利于减少各种并发症,而且可以减少手术干预。本文将对Peutz-Jeghers综合征小肠息肉的各种检测和治疗方法的优劣性及最新的药物治疗进行阐述。     

黑斑息肉病研究进展

黑斑息肉病最早于1921年和1944年分别由Peutz和Jeghera报告,故又称Peutz-Jeghers综合征(PJS)。是一少见的常染色体显性遗传性疾病,以消化道错钩瘤性息肉和皮肤粘     

黑斑-胃肠息肉综合征18例分析

黑斑--息肉综合征(Peutz-Jeghers syndrome，PJS)是一种少见的显性遗传性疾病。南方医院1998年1月至2003年4月共经胃肠镜检查及病理检查确诊为错构瘤、P-J息肉27例，符合PJS18例，现总结报道如下。     

Peutz-Jeghers综合症7例诊治分析

目的分析Peutz-Jeghers综合征的临床特点,探讨其诊断及治疗方法。方法收集Peutz-Jeghers综合征的临床资料7例,对临床表现、内镜治疗等进行回顾性分析。结果 7例患者中,表现为不同程度的皮肤或黏膜黑斑,伴有胃和/或肠息肉,分别行内镜下息肉切除,病理结果为错构瘤性息肉,PJS以青少年多见,首次发病年龄为14～22岁。结论 Peutz-Jeghers综合征患者的息肉多发且形态多样,其中结肠息肉以直肠及乙状结肠为著,需积极的内镜下处理,并且需密切随访和筛查全身肿瘤的发生。     

黑斑息肉综合征并肠套叠1例

黑斑息肉综合征(PJS)是一种少见的染色体遗传疾病，以消化道息肉和皮肤粘膜、肢端色素沉着为基本特征。约50％患者在20岁以前出现症状，表现为腹痛、肠套叠以及胃肠道出血。2002年3月，我院收治黑斑息肉综合征并肠套叠患者1例，经积极治疗和护理患者痊愈出院。现报告如下。     

黑斑息肉综合征6例临床分析

黑斑息肉综合征（PJS）是一种少见的家族性显性遗传病,以皮肤黏膜黑色素沉着、胃肠道多发性息肉和家族性遗传史为特征。1995年9月-2008年1月,我们收治6例PJS患者,现结合相关文献对其临床资料进行回顾性分析。     

内镜下黏膜切除术治疗Peutz-Jeghers巨大十二指肠息肉71例临床研究北大核心CSCD

目的评估内镜下黏膜切除术(EMR)治疗Peutz-Jeghers综合征(PJS)巨大十二指肠息肉的安全性及有效性。方法收集2013年2月至2020年8月在空军特色医学中心确诊为PJS十二指肠息肉并经EMR治疗的病例资料,统计EMR治疗PJS十二指肠巨大息肉的完整切除率、并发症发生率。比较巨大息肉组(直径≥3 cm)与普通息肉组(直径<3 cm)患者EMR手术完整切除率和并发症发生情况,并分析EMR治疗PJS十二指肠息肉手术并发症发生的影响因素。结果共71例患者纳入研究,男44例,女27例,中位年龄为26岁(5~58岁)。内镜下切除息肉最大中位直径为2.0 cm(0.6~13.0 cm),所有患者均成功实施EMR手术,63例患者EMR治疗PJS十二指肠息肉实现完整切除(63/71,88.7%),巨大息肉组EMR手术完整切除率低于普通息肉组(77.4%比97.5%),差异有统计学意义(P=0.023)。EMR手术相关并发症总发生率5.6%(4/71),1例患者同时存在术中创面渗血和术后胰腺炎。巨大息肉组与普通息肉组间并发症发生率(9.7%比2.5%)差异无统计学意义(P>0.05)。内镜下EMR切除十二指肠息肉有无并发症发生在患者性别、年龄、有无PJS家族史、手术史、息肉数量、切除方式上的差异均无统计学意义(P值均>0.05),而息肉位于乳头部位者并发症发生率(50%,3/6)显著高于非乳头部位者(1.5%,1/65),差异有统计学意义(P=0.001)。结论EMR治疗PJS巨大十二指肠息肉总体安全有效的,可作为PJS十二指肠息肉的首选治疗方案。息肉部位是EMR手术相关并发症发生的重要影响因素。     

Peutz–Jeghers syndrome: case reports and update on diagnosis and treatment

OBJECTIVE: To analyze the etiology and diagnostic methods of Peutz–Jeghers syndrome (PJS) and thus establish a treatment strategy. METHODS: Clinical data from six patients with PJS were evaluated from the aspect of familial history, carcinogenesis and recurrence of polyps. RESULTS: The fathers of four and the mother of one of the six patients had PJS. The grandfather of three of the six patients had PJS. There was a history of cancer in three of the five families. Case 4 underwent two laparotomies for intussusceptions caused by recurrent polyps of the small intestine. Case 5 also had recurrent small intestinal polyps and required a laparotomy after 1 year of initial treatment. Polyps in cases 1 and 4 showed adenomatous changes and those in case 2 were associated with gastric cancer. CONCLUSIONS: Patients with PJS have a strong family history of cancer and a high incidence of recurrence of small intestinal polyps. Malignant changes of polyps may follow the hamartoma–adenoma–carcinoma sequence. Careful follow‐up is mandatory for gastrointestinal tract symptoms, and other solid organs that are susceptible to malignant change.     

Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature

Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in the gastrointestinal tract and typical pigment lesions. Extraintestinal polyps have rarely been reported. Possible sites include the respiratory tract, urogenital tract, and gallbladder. We here describe four cases of extraintestinal polyps in PJS patients and review the literature on the need for operative therapy of extraintestinal polyps in PJS. Three nonrelated patients were examined who had PJS and polyps in the gallbladder; the fourth patient had PJS and recurrent choanal polyps. Surgery has so far been performed only for symptomatic polyps: one laparoscopic cholecystectomy and removal of the choanal polyps for recurrent infections of the respiratory tract. The remaining two patients reported no symptoms from the extraintestinal polyps. No malignant transformation was found in these patients, nor has such been reported in the literature on PJS. The frequent observation of this manifestation in our patients raises the question of clinical management: Is prophylactic surgery indicated? Since malignant transformation of PJS polyps in the intestine is extremely rare we see no reason for operative therapy as long as the polyps are small and asymptomatic. Regular sonographic controls are recommended since the risk of malignant transformation cannot be ruled out at present.     

Brg1在Peutz-Jeghers综合征息肉组织中的蛋白表达及基因突变

目的:研究Brg1(Brahma-related gene1)基因在Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)息肉组织中蛋白表达及基因突变的意义,探讨其与肿瘤发生的关系.方法:应用免疫组织化学技术分析72例PJS息肉组织Brg1蛋白的表达,同时应用PCR-DNA技术检测39例PJS息肉和2例癌变组织中Brg1基因第4和10外显子的基因突变,初步探讨其和PJS发生、发展及预后的关系.结果:Brg1蛋白在PJS息肉中的表达率为54.17%(39/72),与小肠腺癌的表达率(76.67%)相比明显降低,与正常组织的表达率(16.67%)相比明显增高;PJS息肉组和正常小肠黏膜组Brg1蛋白阳性表达差异有统计学意义(P<0.05);PJS息肉组和小肠癌组Brg1蛋白阳性表达差异有统计学意义(P<0.05).39例PJS息肉标本和2例癌变标本中,Brg1第4和10外显子的基因突变率为零.结论:Brg1蛋白在PJS息肉中高表达并对PJS的发生发展起着重要作用,但Brg1基因突变在PJS中少见,Brg1蛋白的表达可作为判断PJS息肉恶变及预后的重要指标.     

我国Peutz-Jeghers综合征患者合并恶性肿瘤的临床分析

背景：Peutz-Jeghers综合征（PJS）为一种常染色体显性疾病,可合并多种恶性肿瘤,但肿瘤风险仍未阐明。目的：总结我国PJS患者合并恶性肿瘤的临床特征。方法：以黑斑息肉、Peutz-Jeghers为关键词在万方和中国知网两个数据库中检索1979年1月～2008年10月发表的有关PJS的271篇文献,对合并恶性肿瘤患者的临床特征进行分析。结果：共纳入PJS患者1504例,其中207例（13．8％）合并恶性肿瘤,男女比例约1：1．05。PJS合并的恶性肿瘤中,以消化系肿瘤和妇女相关肿瘤最为常见,分别为155例（74．9％）和24例（11．6％）。PJS患者发生恶性肿瘤频率最高的年龄段为31～50岁,13～50岁PJS患者合并恶性肿瘤的频率达90．9％。PJS合并恶性肿瘤的发生率明显高于普通人群。结论：PJS患者合并恶性肿瘤的发生率明显增高,应积极处理胃肠道息肉和筛查全身肿瘤。     

Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes

OBJECTIVES: At present, surveillance of premalignant small bowel polyps in hereditary polyposis syndromes has a number of limitations. Capsule endoscopy (CE) is a promising new method to endoscopically assess the entire length of the small bowel. METHODS: We prospectively examined 40 patients with hereditary polyposis syndromes (29 familial adenomatous polyposis (FAP), 11 Peutz-Jeghers syndrome (PJS)). Results were compared with push-enteroscopy (PE) results in FAP and with esophagogastroduodenoscopy, PE, (MR)-enteroclysis, and surgical specimen in PJS patients. RESULTS: A total of 76% of the patients with FAP with duodenal adenomas (n = 21) had additional adenomas in the proximal jejunum that could be detected by CE and PE. Moreover, 24% of these FAP patients had further polyps in the distal jejunum or ileum that could only be detected by CE. In contrast, in FAP patients without duodenal polyps (n = 8), jejunal or ileal polyps occurred rarely (12%). CE detected polyps in 10 of 11 patients with PJS, a rate superior to all other reference procedures employed. Importantly, the findings of CE had immediate impact on further clinical management in all PJS patients. CONCLUSIONS: Our results suggest that CE may be of clinical value in selected patients with FAP, whereas in PJS, CE could be used as first line surveillance procedure.     

The utility of capsule endoscopy small bowel surveillance in patients with polyposis

BACKGROUND: Small intestinal (SI) surveillance is recommended for polyposis patients. The utility and safety of capsule endoscopy (CE) for surveillance of SI neoplasia in patients with familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS) is unknown. METHODS: CE was offered to consecutive FAP and PJS patients due for routine upper endoscopic surveillance. The prevalence, location (jejunum, ileum), size (1-5 mm, 6-10 mm, >10 mm) and number (1-5, 6-12, >20) of polyps detected by CE was assessed. RESULTS: 19 subjects (15 FAP/4 PJS) with a mean age of 43 were included. All subjects had previous intestinal surgery. No complications occurred with CE. CE in FAP: 9/15 (60%) of subjects with FAP had SI polyps. The prevalence of SI polyps was related to the duodenal polyposis stage and subject age. The location, size and number of polyps progressed as duodenal polyposis stage advanced. CE in PJS: 3/4 (75%) of subjects with PJS had SI polyps. The polyps were diffuse in 2/4 and only in the ileum in one subject. CE findings led to laparotomy with intra-operative endoscopic polypectomy in two PJS patients. CONCLUSION: SI polyps are common in FAP but their importance is unknown. CE should be performed in FAP patients with stage III and IV duodenal disease. Clinically significant polyps are commonly detected by CE in PJS and lead to change in management in 50% of PJS subjects. CE should replace radiographic SI surveillance for PJS patients. CE is safe in polyposis patients who have undergone major intestinal surgery.     

Laparoscopic-assisted double-balloon enteroscopy for small-bowel polyp surveillance and treatment in patients with Peutz-Jeghers syndrome

BACKGROUND: Surveillance and treatment of small-bowel polyps in patients with Peutz-Jeghers syndrome (PJS) can be challenging and may require intraoperative enteroscopy. While initial reports that used double-balloon enteroscopy (DBE) for the resection of small-bowel polyps in patients with PJS appear promising, complete enteroscopy when using this technique may require multiple procedures or may not be possible at all. OBJECTIVE: To develop a single-procedure approach to the surveillance and the treatment of small-bowel polyps in patients with PJS. DESIGN: Retrospective review. SETTING: Single, North American tertiary-care center. PATIENTS: Individuals with PJS and small-bowel polyps identified by other modalities. INTERVENTIONS: DBE was combined with laparoscopy as a single-procedure surveillance and therapeutic strategy for small-bowel PJS polyps. MAIN OUTCOME MEASUREMENTS: Completion of enteroscopy, number of polyps resected, procedure duration, complications. RESULTS: Three patients with a history of PJS and known small-bowel polyps underwent laparoscopic-assisted DBE (LADBE). Complete enteroscopy was performed, and all polyps larger than 0.5 cm were resected endoscopically. No cases of cancer or dysplasia were noted; procedure times lasted from 1 to 4 hours. Postoperative complications included ileus in 2 patients. LIMITATIONS: Small sample size, single-center experience. CONCLUSIONS: LADBE holds promise as a new technique that can be used as both a surveillance and a therapeutic tool for small-bowel polyps in patients with PJS.     

An Incidentally Discovered Asymptomatic Para-Aortic Paraganglioma with Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal (GI) tract hamartomatous polyps and an increased risk of malignancy. In addition to polyposis, previous studies have reported increased risk of GI and extraGI malignancies in PJS patients, compared with that of the general population. The most common extraintestinal malignancies reported in previous studies are pancreatic, breast, ovarian and testicular cancers.We report the case of a 17-year-old boy who presented with generalized weakness, recurrent sharp abdominal pain and melena, had exploratory laparotomy and ileal resection for ileo-ileal intussusception. Pigmentation of the buccal mucosa was noted. An abdominal computed tomography scan (CT) revealed multiple polyps in small bowel loops. Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborization, compatible with Peutz-Jeghers polyps. CT scan guided left para-aortic lymph node biopsy revealed the characteristic features of extra-adrenal para-aortic paraganglioma. Although cases of various GI and extra GI malignancies in PJS patients has been reported, the present case appears to be the first in literature in which the PJS syndrome was associated with asymptomatic extraadrenal para-aortic paraganglioma. Patients with PJS should be treated by endoscopic or surgical resection and need whole-body screening.     

Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis

Inactivating germ-line mutations of LKB1 lead to Peutz-Jeghers syndrome (PJS). We have generated mice heterozygous for a targeted inactivating allele of Lkb1 and found that they develop severe gastrointestinal polyposis. In all cases, the polyps arising in the Lkb1+/- mice were found to be hamartomas that were histologically indistinguishable from polyps resected from PJS patients, indicating that Lkb1+/- mice model human PJS polyposis. No evidence for inactivation of the remaining wild-type Lkb1 allele in Lkb1+/- -associated polyps was observed. Moreover, polyps and other tissues in heterozygote animals exhibited reduced Lkb1 levels and activity, indicating that Lkb1 was haploinsufficient for tumor suppression. Analysis of the molecular mechanisms characterizing Lkb1+/- polyposis revealed that cyclooxygenase-2 (COX-2) was highly up-regulated in murine polyps concomitantly with activation of the extracellular signal-regulated kinases 1 and 2 (Erk1/2). Subsequent examination of a large series of human PJS polyps revealed that COX-2 was also highly up-regulated in the majority of these polyps. These findings thereby identify COX-2 as a potential target for chemoprevention in PJS patients.