黑斑息肉综合征52例内镜与外科治疗

目的探讨黑斑息肉综合征(PJS)的内镜与外科手术治疗方案及随访计划。方法回顾分析我院1980~2003年间收治的52例PJS患者的临床资料。结果小肠息肉的发生率最高,达95%,其次为大肠息肉和胃息肉。大部分息肉为错构瘤性,部分为腺瘤性,恶性肿瘤发生率为13.5%(7/52)。大部分息肉行内镜下切除,不能内镜下切除的息肉行外科手术治疗,部分患者进行术中内镜配合治疗。术后内镜复查,随访时间越长,息肉的再检出率越高(P<0.05)。结论PJS患者胃肠道息肉首选内镜下治疗,其次选择剖腹探查手术治疗和配合手术中的内镜治疗。患者应定期行内镜复查,终生进行随访治疗。     

Peutz-Jeghers综合征1例报道并浅析

探讨Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)的临床特点及诊治方法。回顾性分析长安医院收治的1例PJS患者临床资料。患者临床表现以腹痛、便血为主。行胶囊内镜检查发现全胃肠道多发息肉、回盲部占位及簇状息肉。最终行剖腹探查手术切除部分肠段明确诊断。PJS患者患恶性肿瘤风险增加,目前内镜下息肉切除及手术治疗仍为主要治疗方法。     

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。     

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。     

中国小肠镜诊治Peutz‑Jeghers综合征的专家共识意见（2022年）

黑斑-息肉综合征（Peutz?Jeghers syndrome,PJS）是一种常染色体显性遗传疾病,以皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉和肿瘤易感性为主要特征。小肠是PJS息肉好发部位之一,易伴发肠套叠、肠梗阻、消化道出血、癌变等并发症。随着小肠内镜技术的迅速发展,小肠镜已经成为PJS诊治的关键技术,在小肠息肉诊断及治疗中发挥重要作用。近年来,随着对PJS临床实践和认识的不断深入,我国消化内镜医师对PJS诊治有了较为丰富的经验积累。为进一步促进小肠镜技术在该领域的推广应用,有必要制定中国小肠镜诊治PJS的专家共识意见。本共识基于循证依据及专家经验对PJS的流行病学、遗传特征、临床表现、诊断标准、内镜治疗、外科手术、息肉监测及随访等方面进行梳理,以便于指导专科医师、内镜医师加强对PJS患者全生命周期的规范诊治和管理,从而更好地发挥小肠镜在PJS患者小肠息肉诊治中的作用。     

术中内镜治疗黑斑息肉综合征小肠息肉疗效观察

目的探讨小切口开腹术配合内镜治疗黑斑息肉综合征（PJS）小肠多发息肉的疗效。方法对临床诊断为PJS的患者进行小肠多发息肉的术中内镜治疗,主要观察指标包括内镜下息肉治疗的完成情况、小肠息肉切除的数量、大小以及与内镜下治疗相关的并发症等。结果8例患者共在术中切除812枚息肉,直径〈10mm384枚;10～30mm 356枚;〉30mm 72枚,其中最大者45mm×38mm。术后出现肠功能障碍1例,腹部隐痛不适1例,未引起血色素下降的出血及其他严重并发症发生。结论术中内镜治疗能安全可靠地切除PJS患者深部小肠息肉,对小肠息肉的治疗损伤小、恢复快,具有重要的临床应用价值。     

双气囊小肠镜黏膜切除术中小肠穿孔一例

黑斑息肉综合征（PJS）因消化道多发息肉及巨大息肉,导致肠梗阻、肠套叠的发生率显著增加,既往外科手术是其主要治疗方法。随着内镜技术的不断进展,双气囊小肠镜对PJS患者小肠息肉的内镜下切除是安全有效的,可以有效降低开腹手术的需要。而在治疗小肠息肉尤其是巨大息肉的过程中,需警惕穿孔的风险。既往的穿孔多表现为迟发性穿孔,而术中即时穿孔罕有报道。本文报道双气囊小肠镜内镜黏膜切除术中封闭小肠穿孔1例。通过对本例患者引起穿孔的原因的分析,以及正确的术中处理的经验小结,旨在为今后推广小肠疾病的内镜治疗提供借鉴。     

中国大陆黑斑息肉综合征临床荟萃分析

目的 探讨黑斑息肉综合征的临床表现、诊断、治疗及预后.方法 汇总分析了1995～2006年期间252篇国内文献报道的1133例黑斑息肉综合征患者的临床资料.结果 全国各省市自治区均有病例报道,黑斑分布以头部及手足为常见,以大肠息肉最为常见,病理以错构瘤性息肉和腺瘤性息肉为主,易合并恶性肿瘤.结论 黑斑息肉综合征近年来报导有明显增多的趋势,值得重视.     

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.     

STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia

Peutz-Jeghers syndrome (PJS) is characterized by number of hamartomatous polyps in the gastrointestinal tract and by mucocutaneous hypermelanocytic lesions at different sites. Older patients have an increased risk of the cancers of small intestine, stomach, pancreas, colon, esophagus, ovary, testis, uterus, breast and lung. In majority of PJS cases, the germline mutations in serine/threonine kinase STK11/LKB1 gene were found to be associated with disease. Here we report the results of a first mutational screen of STK11/LKB1 in PJS patients characterized in Slovak population. The first patient with unusual carcinoma of duodenum was a sporadic case and carried c.842delC change residing in a mutational C6 repeat hotspot. Neither the polyp nor the tumor of the patient displayed the loss of heterozygosity at the site of mutation suggesting different mechanism involved in the formation of polyp and tumor in this case. The second patient belonged to a three-generation family with typical PJS features but not cancers. Interestingly, the patient displayed concomitant occurrence of adenomatous and hamartomatous polyps. Molecular analysis revealed an IVS2+1A>G mutation that alters the second intron 5' splice site and was shown to lead to aberrant splicing mediated by the U12-dependent spliceosome. The same mutation was present in the 9 affected members of the family but in none of their normal relatives. We also observed novel c. IVS2+61G>A unclassified variant, and recurrent IVS2+24G>T and 3UTR+129C>T polymorphisms. Based on the achieved results, we could offer predictive genetic testing and counseling to other members of the patient's families.     

A survey on eight patients and one family history of Peutz-Jeghers syndrome

Eight patients with Peutz-Jeghers Syndrome (PJS) have been diagnosed by fiber light colonoscope in recent ten years in our hospital. Four of them coming from the same family. It was called "Gao family". We made a survey on 42 members in 5 generation of the family including 13 definite patients and 3 suspicious patients. The specification of PJS, the malignant change of polyps and the misdiagnosis of hamartoma are discussed in this paper.     

Peutz-Jeghers syndrome： Diagnostic and therapeutic approach

Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions.Prevalence of PJS is estimated from 1 in 8300 to 1 in 280 000 individuals.PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors).Bleeding, obstruction and intussusception are common complications in patients with PJS.Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel.Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome.Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients.Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era.Both DBE and IOE facilitate exploration and treatment of the small intestine.DBE is less invasive and more convenient for the patient.Both procedures are generally safe and useful.An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men).Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.     

Laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis for Peutz-Jeghers syndrome with synchronous rectal cancer

We report on a patient diagnosed with PeutzJeghers syndrome(PJS) with synchronous rectal cancer who was treated with laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis(IPAA). PJS is an autosomal dominant syndrome characterized by multiple hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation, and increased risks of gastrointestinal and nongastrointestinal cancer. This report presents a patient with a 20-year history of intermittent bloody stool, mucocutaneous pigmentation and a family history of PJS, which together led to a diagnosis of PJS. Moreover, colonoscopy and biopsy revealed the presence of multiple serried giant pedunculated polyps and rectal adenocarcinoma. Currently, few options exist for the therapeutic management of PJS with synchronous rectal cancer. For this case, we adopted an unconventional surgical strategy and ultimately performed laparoscopic restorative proctocolectomy with IPAA. This procedure is widely considered to be the first-line treatment option for patients with ulcerative colitis or familial adenomatous polyposis. However, there are no previous reports of treating PJS patients with laparoscopic IPAA. Since the operation, the patient has experienced no further episodes of gastrointestinal bleeding and has demonstrated satisfactory bowel control. Laparoscopic restorative proctocolectomy with IPAA may be a safe and effective treatment for patients with PJS with synchronous rectal cancer.     

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。     

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.     

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.     

Peutz-Jeghers综合征预防性治疗的研究

Peutz-Jeghers综合征(PJS)又称黑斑息肉病,以皮肤黏膜色素斑、消化道错构瘤息肉和遗传性为临床特征。PJS消化道息肉可产生梗阻、出血、套叠、恶变等严重并发症;目前其临床治疗以手术和内镜治疗为主,都是局部、被动的治疗手段,而无法达到预防息肉发生发展的作用。随着针对PJS的转化医学的进步,针对细胞信号通路及其关键酶的分子靶向药物使PJS消化道息肉的预防性治疗成为可能,其代表是环氧合酶-2的选择性抑制剂和哺乳动物雷帕霉素靶蛋白抑制剂。而以"济生乌梅丸"为代表的中药也为PJS息肉的预防性治疗提供另一个选择。本文总结近年来国内外学者在PJS研究中所取得的共识与进展的基础上,结合自身临床诊治经验,提出了中西医结合预防性治疗PJS胃肠道息肉的思路和方法。以提高临床医生对PJS胃肠道息肉的诊治能力,从而使PJS患者能得到最大的临床获益。     

A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysis

BACKGROUND/AIMS: We report a case of solitary Peutz-Jeghers-type hamartomatous polyp of the duodenum in a 22-year-old Japanese woman along with the results of genomic analysis. METHODS/RESULTS: The patient was almost asymptomatic, though endoscopic examination revealed a solitary lobular polypoid lesion measuring 3 cm in diameter in the first portion of the duodenum. The lesion was resected endoscopically. Histopathological examination showed hyperplasia with a tree branch-like extension of the lamina propria derived from the muscularis mucosae, consistent with histological features of polyps of Peutz-Jeghers syndrome (PJS). No mucocutaneous pigmentation of the skin was evident and family history was negative. Analysis of the loss of heterozygosity at the locus of 19p 13.3 and mutation analysis of the STK11/LKB1 gene, which has recently been recognized as a susceptible gene in PJS, were performed. However, no evidence of genomic abnormality was found. CONCLUSION: The clinical and investigative findings in our case suggest that the solitary Peutz- Jeghers-type hamartomatous polyp can be regarded as a clinical entity separate from PJS.     

结核性脑膜炎患者入住急诊重症监护室后其家属的心理需求评估

对2016年4月至2017年5月入住新疆维吾尔自治区胸科医院急诊重症监护室、确诊为重症结核性脑膜炎(tuberculous meningitis, TBM)的62例患者的97名家属在患者入院时、治疗期间、出院前实施心理需求评估。患者家属存在严重的心理应激反应[100.0%(97/97)的家属希望陪伴在患者身边]、对知晓疾病相关知识的需求较高[81.4% (79/97)的家属希望提供此类疾病相关的健康教育资料、100.0%(97/97)的家属希望了解出院后的注意事项]、存在强烈的社会经济支持需求[97.9%(95/97)担心经济困难会中断治疗]及渴望被关注的心理需求[100.0%(97/97)的家属希望医生能详细耐心说明患者的病情及预后]。医护人员应该重视入住监护室重症TBM患者家属的心理需求,通过个体化、有针对性的干预措施满足重症患者家属的需求。