Contrast-enhanced ultrasound of polyp malignant transformation with multiple metastases in a patient with Peutz-Jeghers syndrome.

Multi-systemic metastasis in patients with Peutz-Jeghers syndrome (PJS) is very rare, and there are nearly no relevant imaging reports, especially in contrast-enhanced ultrasound (CEUS). We present here a 40-year-old male patient who underwent several partial small bowel resections and endoscopic polypectomy for intestinal polyps. After reviewing the patient's clinical diagnosis and treatment process, CEUS with sulfur hexafluoride microbubbles (SonoVue, Bracco, Milan, Italy) in the liver and gastrointestinal tract was performed. We imaged multiple abnormal masses with sonographic features consistent with malignancies. Combined with other imaging examinations and 18 gauge core-needle puncture biopsy of liver masses, multiple metastases outside the gastrointestinal tract were considered. This case report suggests CEUS may be an easy, effective, and supplementary method for evaluating PJS patients with suspected multi-systemic malignant lesions including the gastrointestinal tract.

68 Ga-FAPI-04 Versus 18 F-FDG PET/CT in a Case of Peutz-Jeghers Syndrome.

ABSTRACT: Peutz-Jeghers syndrome is a rare inherited hamartomatous polyposis syndrome. We describe 68 Ga-FAPI-04 and 18 F-FDG PET/CT findings in a case of Peutz-Jeghers syndrome with primary duodenal clear cell sarcoma, peritoneal metastases, and multiple intestinal polyps varying in size. The duodenal tumor and its metastases showed increased FDG and FAPI uptake. The peritoneal metastases were delineated more clearly on FAPI PET/CT compared with FDG PET/CT. More interestingly, the intestinal polyps showed increased FDG uptake and no FAPI uptake.

Solitary peutz-jeghers type hamartoma in a Nigerian: A case report of a rare finding and review of literature.

Background: We report a case of solitary Peutz-Jeghers (P-J) type hamartomatous polyp in the sigmoid colon of an asymptomatic Nigerian without other diagnostic criteria for full-blown P-J syndrome. Case Report: During colonoscopy for a 58-year-old man, a solitary, pedunculated polyp was seen in the sigmoid colon. Histopathological examination of the endoscopically resected mass revealed the classical features of P-J type hamartoma. A search for lentigines on the skin or mucous buccal membranes was negative. There is no family history of such findings. Conclusion: The case here presented is truly rare as a review of the scientific literature appears, to the best of our knowledge, not to contain such a unique presentation from our locality nor indeed from among Black Africans. We conducted a review of the literature and wished to highlight the evolving concept that solitary P-J polyps be considered a distinct disease entity when it appears in the absence of other features of the syndrome complex.

RésuméContexte: Nous rapportons un cas de polype hamartomateux solitaire de type Peutz ­ Jeghers (P J) dans le côlon sigmoïde d'un Nigérian asymptomatique sans autres critères diagnostiques du syndrome P J complet. Rapport de cas: Au cours de la coloscopie d'un homme de 58 ans, un polype solitaire pédonculé a été observé dans le côlon sigmoïde. L'examen histopathologique de la masse réséquée par voie endoscopique a révélé les caractéristiques classiques de l'hamartome de type PJ. Une recherche de lentigines sur la peau ou les muqueuses buccales a été négative. Il n'y a pas d'antécédents familiaux de telles découvertes. Conclusion: Le cas présenté ici est vraiment rare car une revue de la littérature scientifique semble, à notre connaissance, ne pas contenir une présentation aussi unique de notre localité ni même des Noirs africains. Nous avons effectué une revue de la littérature et avons souhaité mettre en évidence le concept évolutif selon lequel les polypes P J solitaires doivent être considérés comme une entité pathologique distincte lorsqu'ils apparaissent en l'absence d'autres caractéristiques du complexe du syndrome. Mots clés: Coloscopie, pigmentation mucocutanée, Nigéria, syndrome de Peutz ­ Jeghers, hamartome de Peutz ­ Jeghers solitaire.

[A case of adult intussusception in the transverse colon with an advanced ileal Peutz-Jeghers type polyp associated with cancer].

A man in his thirties was admitted to the hospital because of upper abdominal pain. Computed tomography showed intussusception in the ascending and transverse colon. After spontaneous discontinuation, endoscopy revealed a 25-mm 0-I tumor in the ileum. An emergency operation was performed the next day due to intussusception recurrence. The tumor was hyperplastic intestinal epithelium with dendritic smooth muscle fascicles and partly cancerous. The patient had no clinical features of Peutz-Jeghers syndrome. Therefore, the patient was diagnosed with Peutz-Jeghers type polyps based on pathological findings. This case is considered to be a rare case of intussusception in the transverse colon due to Peutz-Jeghers type polyp with canceration.

Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.

BACKGROUND: Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised. AIMS: To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs. METHODS: This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Age, gender, history of familial polyposis syndromes, DP/SML characteristics were recorded. Histopathological, immunohistochemical and molecular analyses were performed. RESULTS: 399 non-ampullary DP/SMLs from 345 patients (60.6% males; median age 67 years) were identified. Gastric foveolar metaplasia represented the most frequent histotype (193 cases, 48.4%), followed by duodenal adenomas (DAs; 77 cases, 19.3%). Most DAs (median size 6 mm) were sessile (Paris Is; 48%), intestinal-type (96.1%) with low-grade dysplasia (93.5%). Among syndromic DAs (23%), 15 lesions occurred in familial adenomatous polyposis 1, two were in MUTYH-associated polyposis and one was in Peutz-Jeghers syndrome (foveolar-type, p53-positive, low-grade dysplasia). Only one (3.3%) tubular, low-grade DA showed mismatch repair deficiency (combined loss of MLH1 and PMS2, heterogeneous MSH6 expression), and it was associated with a MLH1 gene germline mutation (Lynch syndrome). CONCLUSION: DPs/SMLs are heterogeneous lesions, most of which showing foveolar metaplasia, followed by low-grade, intestinal-type, non-syndromic DAs. MMR-d testing may identify cases associated with Lynch syndrome.

Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.

Device-assisted enteroscopy: An update on techniques, clinical indications and safety.

After more than 15 years since its introduction into clinical practice, indications for device-assisted enteroscopy have greatly expanded. Alongside the consolidated indications such as the diagnosis and treatment of small bowel bleeding, Crohn's disease, hereditary polyposis, small-bowel tumors and complicated celiac disease, device-assisted enteroscopy is nowadays largely used to perform endoscopic retrograde cholangiopancreatography in patients with altered anatomy, stent placement, retrieval of foreign bodies, direct insertion of jejunal feeding tubes, and in selected cases of incomplete colonoscopy. This has been made possible by the technical improvements of the enteroscopes and accessories and by the widespread use of the method. Device-assisted enteroscopy endotherapy currently offers a safe and effective alternative to major surgery and often represents the preferred option for treatment of small-bowel pathology. Its safety profile is favourable even in the elderly patient, provided that it is performed in high-volume and experienced centers. The evolution of the enteroscopy technique is a challenge for the future and could be facilitated by the new enteroscopes models. These prototypes need a thorough clinical and safety assessment especially for the complex therapeutic procedures. Large prospective, multicenter studies should be performed to assess whether the use of device-assisted enteroscopy leads to improved patients' long-term outcomes.

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. CASE PRESENTATION: A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. CONCLUSIONS: We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.

Safety and efficacy of small bowel polypectomy using a balloon-assisted enteroscope in pediatric patients with Peutz-Jeghers syndrome. / Seguridad y eficacia de la polipectomía en intestino delgado utilizando enteroscopio asistido por balones en pacientes pediátricos con síndrome de Peutz-Jeghers.

INTRODUCTION AND AIMS: Peutz-Jeghers syndrome is an autosomal dominant inherited pathology characterized by gastrointestinal hamartomatous polyps, predominantly in the small bowel, and pigmented mucocutaneous lesions. Guidelines suggest polypectomy with a balloon-assisted enteroscope when polyps are larger than 10mm. Complications in adults can be as high as 6.8%, but there is little information on pediatric populations. Our aim was to describe the safety and efficacy of polypectomy in a group of pediatric patients with Peutz-Jeghers syndrome using balloon-assisted enteroscopy. MATERIALS AND METHODS: A retrospective study was conducted at the Hospital de Especialidades del Centro Médico Nacional Siglo XXI on pediatric patients with Peutz-Jeghers syndrome that required balloon-assisted enteroscopy and polypectomy within the time frame of January 2010 and December 2015. Patients that underwent polypectomy with a push enteroscope were excluded from the study. RESULTS: A total of 35 polypectomies were performed on 4 patients (female/male: 3/1). The mean age of the patients was 13.7 years (range:11-16). Twelve enteroscopies were carried out, 8 of which were anterograde. A single-balloon enteroscope was used in 7 procedures and a double-balloon enteroscope in 5. The mean size of the polyps was 1.6cm (range: 1-4cm). A major complication (acute pancreatitis) presented in only one case (8.3%). No other major complications associated with the procedures were observed. CONCLUSION: Balloon-assisted enteroscopy with polypectomy in children is a safe and effective procedure, with complications similar to those reported in adults.

A giant and extensive solitary Peutz-Jeghers-type polyp in the antrum of stomach: Case report.

RATIONALE: A solitary Peutz-Jeghers-type polyp is a hamartomatous polyp which without either mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome (PJS). It can occur in all of the gastrointestinal tract, but it is extremely rare in the stomach. PATIENT CONCERNS: A 53-year-old man was admitted to the local hospital with left upper abdominal pain lasting 2 weeks. A gastroscopy showed a giant and extensive bulging lesion on the greater curvature and posterior and anterior walls of the gastric antrum, involving three-quarters of the gastric wall. Endoscopic ultrasonography showed a muscularis mucosa lesion. DIAGNOSES: A solitary Peutz-Jeghers-type polyp in the antrum of stomach. INTERVENTIONS: The patient underwent an endoscopic submucosal dissection (ESD). OUTCOMES: The patient recovered quickly, without any complications. LESSONS: This is the second largest gastric solitary Peutz-Jeghers-polyp reported until now, and the largest gastric solitary Peutz-Jeghers type-polyp treated by endoscope.

Report of a case combining solitary Peutz-Jeghers polyp, colitis cystica profunda, and high-grade dysplasia of the epithelium of the colon.

BACKGROUND: Colitis cystica profunda is a rare nonneoplastic disease defined by the presence of intramural cysts that contain mucus, usually situated in the rectosigmoid area, which can mimic various malignant lesions and polyps. Its etiology still remains not fully elucidated, and several mechanisms such as congenital, post-traumatic, and infectious have been implicated in the development of this rare entity. CASE PRESENTATION: Herein, we describe a unique case of colitis cystica profunda in the setting of Peutz-Jeghers-type polyp of the sigmoid colon, associated with high-grade dysplasia of the overlying epithelium in a 48-year-old female patient, who presented to the emergency room with signs of intestinal obstruction. To the best of our insight, this is the first manifestation ever reported in the literature regarding the coexistence of solitary Peutz-Jeghers-type polyp, colitis cystica profunda, and high-grade dysplasia of the epithelium of the colon. CONCLUSIONS: The purpose of this case report is to highlight colitis cystica profunda and its clinical significance. An uncommon nonneoplastic entity, many times masquerading as malignant lesion of the rectosigmoid area of the colon. Clinicians and pathologists should be aware of this benign condition that is found incidentally postoperatively in patients undergoing colectomies, leading to unnecessary increase of morbidity and mortality in these patients, who otherwise could have been cured with conservative treatment only.

Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome.

Using narrow-band imaging (NBI), the micro morphology of polyp surfaces was visualized at high resolution when the contrast between the lesions and the surrounding tissue areas was intensified. The objective of the study was to compare NBI and conventional white light endoscopy (C-WLI) for diagnostic efficacy and treatment of children with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant-genetic disease.We retrospectively analyzed the clinical data of 18 patients diagnosed with PJS and 72 diagnosed with juvenile polyps during the same time period. Endoscopy was used to observe the morphology of polyps, which were classified according to the Kudo pit pattern. Eighty-two and 76 polyps were resected using endoscopy from PJS and juvenile polyp patients, respectively, and pathologically examined for comparison with NBI or C-WLI endoscopic observations.With NBI, 57 (69.5%) type I, 10 (12.2%) type II, and 13 (15.9%) type III polyps were identified in 82 (100%) polyps excised from 18 PJS patients, whereas 69 (88.5%) type I, 5 (6.4%) type II and 4 (5.1%) type III were identified in 78 (100%) of polyps removed from 72 juvenile polyp patients. The combined ratios of types II and III were higher in PJS (28.1%) than in juvenile polyp patients (11.5%). Pathological diagnosis identified 69 of 82 PJS polyps as hamartoma and 13 as adenoma, whereas NBI detected 10 adenomas and C-WLI only 4. The sensitivity, specificity, and accuracy of NBI in the diagnosis of adenoma were 76.9%, 97.1%, and 93.9%, respectively, whereas those of C-WLI were 30.8%, 94.2%, and 84.1%.NBI endoscopy had higher sensitivity and specificity than C-WLI for the diagnosis of adenomatous polyps and is recommended for the diagnosis, characterization, and resection of polyps in children with PJS.