儿童胃肠道息肉的超声检查诊断分析

目的探讨超声检查在儿童胃肠道息肉诊断中的应用价值。方法选取超声检查诊断胃肠道息肉患儿681例,所有患儿均经消化道内镜、腹腔镜或开腹手术行息肉摘除术,将超声检查与手术、病理对照。结果超声检查诊断胃肠道息肉的总的敏感度、特异度、阳性预测值、阴性预测值、Youden指数及准确度均在97.00%以上,Kappa值为0.975,P<0.001,超声检查诊断与术后病理对照具有高度一致性。息肉病理类型最多见的是幼年性息肉647例(95.00%)、其次Peutz-Jeghers综合征肠息肉25例(3.67%)、幼年性息肉病4例(0.59%),三种病理类型的胃肠道息肉均具有典型的临床特征和声像图表现。结论不同病理类型的儿童胃肠道息肉声像图各具特点,超声检查诊断与病理具有高度一致性,可为临床诊断和治疗提供可靠的影像学依据。

儿童Peutz-Jeghers综合征研究现状

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种以皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉为主要特征的肿瘤易感性常染色体显性遗传病,临床发病罕见,19号染色体短臂(19p13.3)上的丝氨酸/苏氨酸激酶11/肝激酶B1(serine/threonine kinase 11/liver kinase B1,STK11/LKB1)是目前唯一确定的致病基因。该病可导致多种并发症,如消化道出血、肠套叠、肠梗阻、癌变等。儿童期以合并肠套叠危害最大,而反复肠套叠易增加外科手术风险,从而对患儿生长发育及生活质量产生巨大影响。该文对儿童PJS的临床特征、病因、发病机制、诊断及治疗等方面的研究现状作一概述。

Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant

AIM: To investigate multiple polyps in a Chinese PeutzJeghers syndrome(PJS) infant. METHODS: A nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained. Serine threonine-protein kinase 11(STK11) gene analysis was also performed using a DNA sample from this infant.RESULTS: Here we describe the youngest known Chinese infant with PJS. Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine. Laparotomy was performed to repair a perforation caused by pneumoperitoneum. The pathological results showed that this child had PJS. Molecular analysis of the STK11 gene further revealed a novel frameshift mutation(c.64_65het_del AT) in exon 1 in this PJS infant.CONCLUSION: The appropriate treatment method for multiple polyps in an infant must be carefully considered. Our results also show that the STK11 gene mutation is the primary cause of PJS.

Update on imaging of Peutz-Jeghers syndrome

Peutz-Jeghers syndrome(PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients affected by PJS have an increased risk of developing gastrointestinal and extra-digestive cancer. Malignancy most commonly occurs in the smallbowel. Extra-intestinal malignancies are mostly breast cancer and gynecological tumors or, to a lesser extent, pancreatic cancer. These polyps are also at risk of acute gastrointestinal bleeding, intussusception and bowel obstruction. Recent guidelines recommend regular smallbowel surveillance to reduce these risks associated with PJS. Small-bowel surveillance allows for the detection of large polyps and the further referral of selected PJS patients for endoscopic enteroscopy or surgery. Video capsule endoscopy, double balloon pushed enteroscopy,multidetector computed tomography and magnetic resonance enteroclysis or enterography, all of which are relatively new techniques, have an important role in the management of patients suffering from PJS. This review illustrates the pathological, clinical and imaging features of small-bowel abnormalities as well as the role and performance of the most recent imaging modalities for the detection and follow-up of PJS patients.

Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation?A case report and review of the literature

Peutz-Jeghers syndrome(PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19 p13.3 is considered to be the hereditary cause of PJS. However, must a patient with PJS have the LKB1/STK11 gene mutation? We here report a case of a male patient who had typical manifestations of PJS and a definite family history, but did not have LKB1/STK11 gene mutation. By means of high-throughput sequencing technology, only mutations in APC gene(c.6662 T > C: p.Met2221 Thr) and MSH6 gene(c.3488 A > T: p.Glu1163 Val) were detected. The missense mutations in APC and MSH6 gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PJS. This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation.

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.

Peutz-Jeghers syndrome with small intestinal malignancy and cervical carcinoma

We report a case of 30-year-old woman with Peutz- Jeghers syndrome (PJS). Because of small intestinal obstruction, she received the small intestinal polypectomy in 2001, and the pathological diagnosis was Peutz-Jeghers polyp canceration (mucinous adenocarcinoma, infiltrating full-thickness of the intestine). The patient did not feel uncomfortable after 6 mo of chemotherapy and other management. We kept a follow-up study on her and found that she suffered from cervical cancer in 2007, with a pathological diagnosis of cervical adenosquamous carcinoma.The patient presented with typical features of PJS, but without a family history. The PJS accompanied with both small intestinal and cervical malignancies has not been reported so far in the world.

Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyposis in the gastrointestinal tract and melanin-pigmented macules on the skin mucosa. The responsible gene is a tumor suppressor, STK11/LKB1, on chromosome 19p13.3. PJS complicates with benign and malignant tumors in various organs. In gynecology, there has been a particular focus on complications of PJS with sex cord tumor with annular tubules (SCTAT) and minimal deviation adenocarcinoma (MDA), which are rare diseases. Approximately 36% of patients with SCTAT are complicated with PJS and these patients are characterized by multifocal, bilateral, small and benign lesions that develop into tumors with mucinous to serous ratios of 8:1. In addition, 10% of cases of MDA are complicated with PJS and mutation of STK11, the gene responsible for PJS, has a major effect on onset and prognosis. The disease concept of lobular endocervical glandular hyper-plasia (LEGH) has recently been proposed and LEGH is thought to be a potential premalignant lesion of MDA, however, the relationship between PJS and LEGH remains unclear. Several case reports of PJS patients complicated with gynecological tumors have been published and further studies are needed to determine the underlying

Novel serine/threonine kinase 11 gene mutations in PeutzJeghers syndrome patients and endoscopic management

AIM:To explore mutations in serine/threonine kinase 11(STK11) gene in Peutz-Jeghers syndrome(PJS) with gastrointestinal(GI) hamartomatous polyps.METHODS:Six Japanese PJS patients in 3 families were enrolled in this study.Each of the cases had hamartomatous polyposis in the gastrointestinal tract,including the small intestine,along with mucocutaneous hyperpigmentation.Narrow-band imaging(NBI)-magnification endoscopy was employed to detect microvascular and microsurface irregularities in the GI lesions.NBI magnification findings could be classified into three groups(type A,type B,or type C).Endoscopic polypectomy was performed using double-balloon enteroscopy or colonoscopy.Genomic DNA was extracted from a whole blood sample from each subject.All of the coding exons of STK11 gene,its boundary regions,and the promoter region containing the polymorphic regions were amplified by polymerase chain reaction,and direct sequencing was performed to assess the germline mutations.RESULTS:NBI-magnification endoscopic observation could detect the abnormalities in microvessels and microsurface structures of GI polyps.Overall,we found 5 cases of type A and one case without the examination for the gastric polyps,while there were 4 cases of type B and 2 case of type A for the colorectal polyps.Seventy-nine small-bowel and 115 colorectal polyps over 27 sessions for each were resected endoscopically without significant complications.The only delayed complication included the occurrence of bleeding in a case,and this was successfully managed with hemoclips.Resected polyps contained no malignant components.Based on mutation analysis,all 3 cases in Family I exhibited the +658C>T nonsense mutation in exon 5,which resulted in the production of a truncated protein(Q220X).In Family II,a case had-252C>A and-193C>A in the promoter region.In Family III,a case was found to have the +1062C>G(F342L) mutation in exon 8.CONCLUSION:We found two novel mutations of STK11 in association with PJS.Endoscopic polypectomy of GI polyps in PJS patients appears to be useful to prevent emergency laparotomies and reduce the cancer risk.

Peutz-Jeghers syndrome with mesenteric fibromatosis: A case report and review of literature

BACKGROUND Peutz-Jeghers syndrome(PJS) and mesenteric fibromatosis(MF) are rare diseases,and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Emergency computed tomography showed multiple soft tissue masses in the abdominal and pelvic cavity, and adhesions in the small bowel and peritoneum. Partial intestinal resection and excision of the recurrent MF were performed to relieve the symptoms.CASE SUMMARY A 36-year-old male patient underwent total colectomy for PJS with MF. No regular reexamination was performed after the operation. Two years later, due to intestinal obstruction caused by MF enveloping part of the small intestine and peritoneum, the patient came to our hospital for treatment. Extensive recurrence was observed in the abdomen and pelvic cavity. The MF had invaded the small intestine and could not be relieved intraoperatively. Finally, partial bowel resection, proximal stoma, and intravenous nutrition were performed to maintain life.CONCLUSION Regular detection is the primary way to prevent deterioration from PJS. Although MF is a benign tumor, it has characteristics of invasive growth and ready recurrence. Therefore, close follow-up of both the history of MF and gastrointestinal surgery are advisable. Early detection and early treatment are the main means of improving patient prognosis.

Peutz-Jeghers Syndrome的X线诊断和监测

目的 探讨X ray消化系造影在纤维内窥镜配合下对Peutz Jeghers综合征的诊断和监测方法及意义。方法 对近 15年面部、黏膜部多发黑斑者行X ray消化系低张气钡双重造影、纤维内窥镜、病理及CT检查。结果 10例伴有消化道多发息肉 ,确诊为Peutz Jeghers综合征。 结论 X ray消化系低张气钡双重造影对诊断与监测Peutz Jeghers综合征具有重要价值。

Malignant tumors associated with Peutz-Jeghers syndrome: Five cases from a single surgical unit

BACKGROUND Peutz-Jeghers syndrome(PJS) is an autosomal dominant inherited disease easily causing secondary malignant changes without effective treatments.AIM To assess the clinical characteristics, diagnosis, and treatment of malignant changes secondary to PJS.METHODS The clinical data of five patients with malignant changes secondary to PJS diagnosed and treated at Beijing Friendship Hospital from June 2014 to January 2017 were retrospectively analyzed;the follow-up ended in May 2018.RESULTS There were three male and two female patients with an average age of 43.6 years.Intestinal obstruction, intussusception, and abdominal pain were the first symptoms. Computed tomography and gastrointestinal imaging combined with endoscopy helped evaluate the depth of tumor infiltration and determine the need for radical resection. Three patients underwent surgery. Postoperative pathology confirmed adenocarcinoma, genetic test indicated STK11 mutation,and the patients received chemotherapy, including one who succumbed to tumor progression 6 months post-surgery. Other two patients underwent endoscopic resection, and postoperative pathology confirmed high grade intraepithelial neoplasia. The surviving patients had no recurrence by May 2018.CONCLUSION Endoscopy combined with computed tomography and gastrointestinal imaging is of great significance in the diagnosis and treatment of PJS, and pathological examination and gene detection are the gold standards for detecting malignant changes secondary to PJS. Some malignant polyps can be removed under endoscopy, and surgery is feasible when malignant polyps cannot be remove dunder an endoscope. For patients unable to achieve R0 resection, clinical symptoms should be relieved, and postoperative adjuvant chemotherapy could improve long-term prognosis. Meanwhile, close and regular surveillance should be conducted to prevent severe complications.

内镜下切除儿童Peutz-Jeghers综合征巨大息肉效果及安全性分析

目的探讨Peutz-Jeghers综合征(PJS)患儿的临床特点及内镜下切除患儿PJS巨大息肉的有效性及安全性。方法回顾性分析自2019年1月至2022年8月于儿童消化科住院治疗的11例PJS患儿的临床资料。结果患儿首次入院平均年龄为(8.7±3.0)岁,所有患儿均有口唇、指、趾端黑斑(100%)。双气囊小肠镜(DBE)检查16次,2例患儿完成全消化道检查,发现>3 cm息肉共18枚,小肠12枚(66.7%)、胃1枚、结肠5枚,分别于胃镜、DBE、结肠镜下切除。经口小肠镜患儿术后均有咽痛(100%),腹胀2例次,呕吐1例次,迟发性出血1例次,未出现严重并发症。结论DBE可有效清除消化道息肉,对儿童PJS的治疗具有一定安全性。

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentations in the mouth, facial skin, hands & feet. Small bowel obstruction, intussusception, bleeding, intestinal and extra-intestinal malignancies are the major complications of PJS. The aim of this study is to analyze the clinical characteristics, preoperative diagnosis, and surgical management of PJS associated-intussusception in adults. Patients and Methods: This study included 5 cases with intussusception in PJS patients presented to Surgical Oncology Unit, General Surgery Department, Tanta University Hospital, Egypt and Hamad General Hospital, Hamad Medical Corporation, Qatar, between October 2011 and March 2016. Patients’ demographics were collected. After thorough clinical examination, abdominal X-ray, US, & CT scan were done. All the patients were submitted to midline laparotomy with resection anastomosis of the affected bowel segment. Results: The mean age was 28.4 years. Female: male ratio was 3:2. Abdominal pain was the most common presenting complaint with or without intestinal obstruction manifestations. Palpable abdominal mass was found in 3 patients (60%). Intussusception was proved pre-operatively in all the cases by abdominal ultrasound and CT scan. The intussusception was found in the jejunum in 3 patients, ileum in 1 patient, & in 1 patient, there was double intussusception (one jejunal & one ileo-cecal). Histopathological examination revealed the presence of typical Peutz-Jeghers hamartomatous polyp. No morbidity or mortality was reported at a mean follow-up period of 32 months. Conclusion: Family history, physical examination, abdominal ultrasound and CT scan were important in the diagnosis of acute intussusception caused by PJS. Surgical management of PJS associated intussusception is the recommended treatment to relieve patient’s symptoms and to avoid missing underlying malignancy. Patients with PJS should be followed up throughout their lives because of the increased risk of malignant changes.

儿童Peutz-Jeghers综合征内镜下治疗策略

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)在儿童时期的危害主要是息肉相关并发症,消化道反复生长的、多发的、巨大息肉引起肠套叠或肠梗阻,往往需要多次外科开腹手术治疗。随着儿童消化内镜技术的发展,预防性切除胃肠道息肉,极大地降低了PJS患者在儿童时期的开腹率。文章对儿童PJS患者内镜术前诊断、检查时机、术前评估、治疗原则、治疗技巧及术后管理等进行概述,以期为儿童PJS内镜治疗提供参考。

Peutz⁃Jeghers综合征伴宫颈腺癌及神经内分泌癌1例并文献复习

Peutz⁃Jeghers综合征(Peutz⁃Jeghers syndrome,PJS)是一种罕见的常染色体显性遗传疾病,以多发性胃肠道错构瘤型息肉和黏膜皮肤黑素细胞斑为特征[1]。绝大多数PJS病例中发现丝氨酸/苏氨酸激酶11(STK11/LKB1)种系突变(66%~94%)。因此,STK11/LKB1基因突变被确定为PJS的遗传异常。PJS患者发生胃肠道和肠外器官各种良性和恶性肿瘤的风险增加。多种女性生殖系统疾病与PJS相关,包括卵巢环状小管性索肿瘤、宫颈微小偏离型腺癌等,但宫颈腺癌合并小细胞神经内分泌癌很少被报道,东南大学附属中大医院诊治1例Peutz⁃Jeghers综合征合并宫颈腺癌及小细胞神经内分泌癌患者,现结合文献复习报道如下。

93例罕见病黑斑息肉综合征编码错误分析与改进

目的:通过核查某院近10年黑斑息肉综合征ICD-10编码,分析编码错误原因,探讨改进思路,提高罕见病编码正确率。方法:利用病案统计系统以及病理质控与管理系统,调取某院2012年1月1日-2021年12月31日黑斑息肉综合征病例进行回顾性分析,经病理科质控员和临床医师确认为黑斑息肉综合征93例,由编码员对编码进行审核。结果:93份病历中正确编码68例,占比73.1%;错误编码25例,占比26.9%。其中错编成息肉14例,占比56%;编成良性肿瘤3例,占比12%;编成后天性小肠畸形2例,占比8%;漏编码2例,占比8%;其它4例(编成错构瘤病、家族性息肉病、消化道多发息肉综合征、胃结石各1例),占比16%。结论:黑斑息肉综合征编码具有一定的难度,准确编码需要编码员和临床医师们共同完成。临床医师和编码员应该有此疾病相应的知识储备,积极与病理科及时沟通。编码员应熟练掌握编码技能和具备独立思考的职业习惯,提高编码正确率。

Peutz-Jeghers综合征1例

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传病,以胃肠道息肉病和皮肤黏膜色素沉着为特征。患者可表现为腹痛、腹胀、贫血等非特异性症状。本文报道1例21岁女性患者,结肠有多发性息肉,口唇、手掌、足底等部位有皮肤色素斑;光镜下息肉呈绒毛状结构,表面被覆正常黏膜腺体,轴心由树枝状平滑肌构成。通过对该患者的分析,总结PJS的临床病理学特征、组织形态、诊断与鉴别诊断以及基因改变的研究进展,以提高对该综合征的认识。

注水小肠镜下黏膜切除术治疗Peutz-Jeghers综合征息肉的临床应用

目的探讨注水小肠镜下治疗Peutz-Jeghers综合征(PJS)肠道息肉的有效性及安全性。方法选取2021年4月至2022年10月空军特色医学中心由一名特定医师完成的小肠镜下治疗PJS息肉的患者为研究对象,将患者分为注水小肠镜组和普通注气小肠镜组,对两组患者年龄、性别、肠道息肉切除情况、术中术后并发症、住院天数及住院费用等进行比较。结果共84例PJS患者纳入分析,注水小肠镜组49例患者,普通注气小肠镜组35例患者。两组患者在年龄、性别、切除息肉情况、住院天数及住院费用方面均没有统计学差异。注水组小肠镜治疗术中及术后总并发症发生率明显低于注气组,差异有统计学意义(0%vs 20%,P=0.001)。结论注水法小肠镜可降低Peutz-Jeghers综合征肠道息肉治疗并发症的发生,值得临床应用及推广。