Case Of Peutz-Jeghers Syndrome Research Articles

A case of Peutz-Jeghers syndrome presenting as multiple intussusception of small bowel – A rare surgical emergency

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterised by melanin pigment spots on the oral mucosa, lips, nasal alae, palm and soles, as well as hamartomatous polyps in the alimentary canal. Polyps are often a cause of intussusception in the affected patients. Cancers of the gastrointestinal system, uterus, and breast are common in patients with PJS. Long-term follow-up is required to prevent intussusception in children and cancer in adults. We report a classical case of PJS presenting with multiple intussusception of the small bowel in a 20-year-old male patient.

A RARE CASE OF PEUTZ-JEGHERS SYNDROME PRESENTING WITH MELENA

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps throughout the gastrointestinal tract and distinctive mucocutaneous pigmentation. We present a case of PJS in a 17-year-old male who presented with melena, which led to the discovery of multiple hamartomatous polyps in the small intestine, colon, and stomach. Despite the rarity of this syndrome, prompt recognition of its clinical manifestations, including gastrointestinal bleeding, is crucial for early diagnosis and management. This case underscores the importance of considering PJS in the differential diagnosis of patients presenting with melena, as timely intervention can prevent serious complications such as bowel ischemia and malignant transformation. Additionally, it highlights the significance of comprehensive surveillance and screening protocols for individuals with PJS to detect and manage associated malignancies and gastrointestinal complications effectively.

A rare case of cervical gastric-type adenocarcinoma mimicking bilateral ovarian malignancy in a genetically confirmed Peutz-Jeghers syndrome without known polyposis

Abstract Introduction/Objective Cervical gastric-type adenocarcinoma (GAS) is rare and accounts for 2-4% of cervical cancer. GAS is usually sporadic but can be associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder caused by germline STK11 mutations and characterized by hamartomatous polyposis in the gastrointestinal (GI) tract, mucocutaneous pigmentation, and cancer predisposition. Although cases of GAS may occur in patients with PJS associated with polyposis, our patient with GAS has an unusual and perhaps unique association with the PJS mutation that is unassociated with polyposis. Methods/Case Report A 33-year-old female presented with abdominal pain, abnormal uterine bleeding, vaginal discharge, weight loss, and fatigue for one year. Pigmentations were noted on lips, gum, tongue, and hands. She had a family history of maternal ovarian and pancreatic cancers. Computerized tomography revealed large bilateral multiloculated complex cystic adnexal masses, thickened endometrium extending into the endocervix, and ascites. Tumor markers showed increased CA19-9 and CA125, suggesting either a primary ovarian malignancy or possible metastatic GI tract cancer to both ovaries. Her PAP smear demonstrated atypical glandular cells that favored endocervical origin. HPV was not detected. A cervical biopsy showed bland gastric-type glands without obvious stromal invasion. Given the clinical concern for malignancy, a cervical cone biopsy was performed, demonstrating unequivocal invasion by gastric-appearing glands. The tumor cells were positive for CK7, CEA, and PAX8, and were negative for CK20, CDX2, and p16. The pathologic diagnosis confirmed a primary GAS with a spread to bilateral ovaries. Although the upper GI tract and left colon were free of polyps or masses by endoscopic exam, the genetic evaluation revealed a germline heterozygous STK11 mutation consistent with PJS. Results (if a Case Study enter NA) NA Conclusion To our knowledge, this is the first case of occult PJS (confirmed by genetic analysis) presenting with widely advanced metastatic GAS without known polyposis.

Cancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center.

Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.

Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases.

Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment. To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center. The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, frequency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant. Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%. The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.

Peutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis.

Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and oral mucosa. The incidence of this syndrome is approximately 1 in 1,20,000 births. In this article, we are presenting 11 cases of PJS which were misdiagnosed and patients were compelled to visit hospital repeatedly. All these cases were diagnosed based on clinical suspicion, family history, and histopathological examination of specimens. Most of the cases presented with intussusception and required emergency surgical management. PJS can be diagnosed by the presence of microscopically confirmed hamartomatous polyps and a minimum of two of the following clinical criteria: Family history, mucocutaneous melanotic spots, and small bowel polyps with bleeding per rectally. The diagnosis can be missed if the melanotic spots on the face are missed. Routine investigations, imaging, and endoscopy were done in all cases. PJS patients need regular follow-up due to chance of recurrence of symptoms and susceptibility to cancer. PJS needs a high index of suspicion for diagnosis in cases of recurrent abdominal pain with bleeding per rectum. Proper family history and meticulous clinical examination for melanosis are very important to prevent the misdiagnosis of these cases.

Altered Gut Microbiota in Patients With Peutz-Jeghers Syndrome.

BackgroundPeutz–Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of pigmented spots and gastrointestinal polyps and increased susceptibility to cancers. It remains unknown whether gut microbiota dysbiosis is linked to PJS.AimThis study aimed to assess the structure and composition of the gut microbiota, including both bacteria and fungi, in patients with PJS and investigate the relationship between gut microbiota dysbiosis and PJS pathogenesis.MethodsThe bacterial and fungal composition of the fecal microbiota was analyzed in 23 patients with PJS (cases), 17 first-degree asymptomatic relatives (ARs), and 24 healthy controls (HCs) using 16S (MiSeq) and ITS2 (pyrosequencing) sequencing for bacteria and fungi, respectively. Differential analyses of the intestinal flora were performed from the phylum to species level.ResultsAlpha-diversity distributions of bacteria and fungi indicated that the abundance of both taxa differed between PJS cases and controls. However, while the diversity and composition of fecal bacteria in PJS cases were significantly different from those in ARs and HCs, fungal flora was more stable. High-throughput sequencing confirmed the special characteristics and biodiversity of the fecal bacterial and fungal microflora in patients with PJS. They had lower bacterial biodiversity than controls, with a higher frequency of the Proteobacteria phylum, Enterobacteriaceae family, and Escherichia-Shigella genus, and a lower frequency of the Firmicutes phylum and the Lachnospiraceae and Ruminococcaceae families. Of fungi, Candida was significantly higher in PJS cases than in controls.ConclusionThe findings reported here confirm gut microbiota dysbiosis in patients with PJS. This is the first report on the bacterial and fungal microbiota profile of subjects with PJS, which may be meaningful to provide a structural basis for further research on intestinal microecology in PJS.

Histopathological spectrum of duodenal polyps in a retrospective ten-year study.

Duodenal polyps are rare in patients undergoing upper gastrointestinal endoscopy. The present study is an experience of the histopathological spectrum of the duodenal polyps and its correlation with the clinical and endoscopic findings in a tertiary care centre. The present study is a 10-year retrospective study from the year 2011 to 2020. All the relevant clinical, endoscopic and radiologic findings were retrieved from the hospital medical records. Old histopathology slides were restained, and wherever required, special stains and immunohistochemistry (IHC) were performed. All the cases were reviewed. The present study mainly included descriptive statistics with categorical and continuous variables. Total 81 cases of duodenal polyps were studied in the period of 10 years. The median age was 48 years. Male: female ratio was 2.2:1. The most common presenting system was abdominal pain. We experienced both solitary and multiple polyps. The majority of the duodenal polyps were non-neoplastic, with unremarkable mucosa or inflammatory type. Unlike previous studies the most common site for the hyperplastic polyp in the present study was the first part of the duodenum. Among the neoplastic polyps, adenomatous polyp was the most common type. Contrary to the previous studies, our study showed the first part of the duodenum as the most common site for the sporadic nonampullary adenomatous duodenal polyps. Of the rare entities, we encountered a single case each of lipomatous polyp and gangliocytic paraganglioma. Among the syndromes we encountered two cases of Peutz-Jeghers syndrome and one case of familial adenomatous polyp in our study population.CONCLUSION Duodenal polyps are a rare finding on endoscopic examinations, though most of them are non-neoplastic in nature, vigilant examination under the microcope is required to rule out any neoplastic pathology and identify the risk of malignancy.

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

BACKGROUNDDifferent types of pathogenic mutations may produce different clinical phenotypes, but a correlation between Peutz-Jeghers syndrome (PJS) genotype and clinical phenotype has not been found. Not all patients with PJS have detectable mutations of the STK11/LKB1 gene, what is the genetic basis of clinical phenotypic heterogeneity of PJS? Do PJS cases without STK11/LKB1 mutations have other pathogenic genes? Those are clinical problems that perplex doctors.AIMThe aim was to investigate the specific gene mutation of PJS, and the correlation between the genotype and clinical phenotype of PJS.METHODSA total of 24 patients with PJS admitted to the Air Force Medical Center, PLA (formerly the Air Force General Hospital, PLA) from November 1994 to January 2020 were randomly selected for inclusion in the study. One hundred thirty-nine common hereditary tumor-related genes including STK11/LKB1 were screened and analyzed for pathogenic germline mutations by high-throughput next-generation sequencing (NGS). The mutation status of the genes and their relationship with clinical phenotypes of PJS were explored.RESULTSTwenty of the 24 PJS patients in this group (83.3%) had STK11/LKB1 gene mutations, 90% of which were pathogenic mutations, and ten had new mutation sites. Pathogenic mutations in exon 7 of STK11/LKB1 gene were significantly lower than in other exons. Truncation mutations are more common in exons 1 and 4 of STK11/LKB1, and their pathogenicity was significantly higher than that of missense mutations. We also found SLX4 gene mutations in PJS patients.CONCLUSIONPJS has a relatively complicated genetic background. Changes in the sites responsible for coding functional proteins in exon 1 and exon 4 of STK11/LKB1 may be one of the main causes of PJS. Mutation of the SLX4 gene may be a cause of genetic heterogeneity in PJS.

Jejunal Polyps that Lead to Small Bowel Intussusception in Adults: A Rare Case Report

Small intestine polyps are very rare in adults. Incidental finding of those polyps; sending them for histopathology that comes out to be Peutz-Jeghers syndrome (PJS) is extremely rare. PJS is an inherited disease characterized with typical hamartomas polyps in intestine along with distinctive skin pattern and mucocutaneous pigmentation. Gene mutation is responsible for 93% of PJS cases, among which majority of cases occur due to mutation in STK11 gene. PJS patients have 15-fold higher risk of developing cancer, including intestinal, extra-intestinal, breast, lung, pancreatic and colorectal cancer. Although PJS incidence is very low but its early recognition is very important for lowering morbidity and mortality. In this study, we have reported a very rare case of PJS in adults that was operated for small bowel obstruction secondary to intussusception. These cases are very rare in literature.

An unusual case of Peutz–Jeghers syndrome with polyposis-associated adenomatous change

Introduction: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant syndrome associated with mucocutaneous pigmentation and hamartomatous gastrointestinal polyps. It is associated with increased risk of intestinal and extraintestinal malignancies. Case Report: This is a rare case of PJS with multiple polyps with features of villous adenoma and high grade dysplasia. A 48-year-old female presented with the complaints of bleeding per rectum since five months. Hyperpigmented spots were present on the buccal mucosa. On endoscopy, multiple polyps in distal colon, stomach, duodenum, and periampullary region were noted. Polypectomy was done and sent for histopathological evaluation. Grossly, the largest polyp was in sigmoid colon measuring 2.6 × 1.5 × 1 cm and smallest polyp was in stomach measuring 3 × 2 × 1 mm. On microscopy, polyps from transverse colon showed polypoidal tissue traversed by branching muscularis mucosae forming arborizing pattern. Polyps from sigmoid colon showed similar features with a focus of dysplasia and villous adenoma. Conclusion: Further the patient was advised to undergo mandatory periodic evaluation on follow-up.

Colon cancer of Peutz-Jeghers syndrome with gallolyticus endocarditis

We report a case of Peutz-Jeghers syndrome with gallolyticus endocarditis which has not yet been reported. Colon cancer was observed and implicated in Peutz-Jeghers syndrome. A 44-year-old female with fever and heart murmur was diagnosed as infective endocarditis caused by streptococcus gallolyticus. After treatment with antibiotics and mitral valbuloplasty, we performed gastrointestinal endoscopic studies and found polyps in stomach and colon. Histological findings of a large pedunculated colon polyp revealed hamartomatous polyp with a lesion of adenocarcinoma with adenoma. She had pigmentation of digits. Her father had also digits pigmentation and died of pancreas cancer. Peutz-Jeghers syndrome with colon cancer was incidentally diagnosed by infective endocarditis and subsequent colonoscopy.

Clinical characteristics and surgical outcome in children with intussusceptions secondary to pathologic lead points: retrospective study in a single institution.

Intussusception secondary to pathologic lead points (PLPs) is a potential surgical emergency and almost all cases need surgery. The aim of this study was to evaluate the clinical manifestations, physical examinations and surgical outcomes of secondary intussusception (SI) caused by PLPs, as well as to improve the diagnosis and treatment of PLPs in children and infants. We retrospectively reviewed the records of 83 children and infants who were diagnosed with intussusception secondary to PLPs in our institution. The ultimate diagnosis was dependent on histopathological findings under a microscope by a pathologist. Patients were divided into a younger group (< 2years old) and the older group (> 2years old) according to age. Patient demographics, clinical manifestations, duration of symptoms, auxiliary examinations, and the presence of pathological lead point were recorded. A total of 83 patients were found with intussusception secondary to PLPs in this study. Patients were aged from 4days to 14 years, with a mean age of 3.8years (median 1.5; range 0-14years). There were 47 cases in the younger group and 36 cases in the older group. The main clinical symptoms were intermittent crying or abdominal pain. PLPs were observed in only ten patients on US (12%). Ten patients underwent enteroscopy examination for further diagnosis, and all the patients had positive findings including seven cases of Peutz-Jeghers syndrome and three cases of benign polyps. Technetium-99m pertechnetate scans were performed in ten patients and five patients had positive results (50%). Based on the surgical findings, complex/compound is the most common type of intussusception, followed by small intestinal and ileo-colic type. The main types of PLPs were Meckel's diverticulum (n = 31), duplication cyst (n = 19) and benign polyps (n = 13). Meckel's diverticulum and intestinal duplication were the most common causes of secondary intussusception among children younger than 2years, accounting for 81% (38/47) of the cases. The most common causes of secondary intussusception in children older than 2years were intestinal polyps, Meckel's diverticulum and Peutz-Jeghers syndrome, accounting for 72% (26/36) of the cases. The presence of a pathological lead point is more likely in older children. The most common types of intussusception secondary to PLPs are complex/compound and small intestinal. Meckel's diverticulum and intestinal duplication were the most common causes of secondary intussusception among younger children and Peutz-Jeghers syndrome and intestinal polyps were commonly seen in older children.

Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation.

The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics. In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected. The coding region of STK11 was amplified by PCR and screened for mutation by Sanger sequencing. The families that were negative for STK11 mutation were further assessed by multiplex ligation-dependent probe amplification (MLPA). Initial presentation in affected children was at 1.6 to 14.2 years and included anemia in 8 patients whereas 6 presented for screening by virtue of family history. All patients underwent endoscopy, colonoscopy, and polypectomy. Polyps were distributed throughout the gastrointestinal (GI) tract, including the small intestine, stomach, colon, and rectum.In the 18 pediatric PJS families, STK11 mutations were detected in 8 families by Sanger sequencing, and large deletions were detected in 3 by MLPA, respectively. Nine of the 11 STK11 mutations were de novo, 3 were novel (c.419T>C:p.L140P, c.314T>G:p.L105X), and (c.488_489insACGG p.L164fs). Although the main clinical features of pediatric PJS were similar to those of PJS cases in adults, a high frequency of STK11 de novo mutations were encountered in our population of patients with PJS.

Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) caused by germline STK11 variants is a rare autosomal dominant cancer predisposition syndrome characterized by multiple gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation and a high inherited risk of developing GI, breast and other cancers. Despite GI and breast being the two most common PJS-associated cancer sites, the immunohistochemical (IHC) and molecular features of these tumors in carriers of STK11 variant is not known. Detailed phenotyping including tumor IHC and its correlation with comprehensive STK11 genotyping by full gene sequencing followed by large genomic rearrangement analysis was performed in an Indian PJS cohort. A total of 4 distinct STK11 pathogenic or likely pathogenic variants were identified in 10 PJS cases from 7 of the 19 families tested-in 4/5 classical PJS families and 3/14 suspected PJS families. The pathogenic STK11 variant identified was novel in 3/7 families. In addition, four distinct, likely benign variants identified in seven families were also novel. All of the four breast cancer cases in families with STK11 pathogenic variant were estrogen receptor (ER)-positive and Her2-negative. Several novel STK11 variants identified in this Indian PJS cohort highlight the need to study PJS in different populations across the world. This is the first report showing ER positivity in breast cancer in carriers of STK11 variants and needs confirmation in a larger pooled cohort of PJS associated breast cancers. This could help establish the role of chemoprevention or prophylactic oophorectomy in female carriers of STK11 pathogenic variants.

Peutz-Jeghers ポリープに発生した早期胃癌に対し，内視鏡的粘膜下層剥離術を施行した Peutz-Jeghers 症候群の1 例

Peutz-Jeghers ポリープに発生した早期胃癌に対し，内視鏡的粘膜下層剥離術を施行した Peutz-Jeghers 症候群の1 例

Peutz–Jeghers syndrome: An unusual cause of iron-deficiency anemia

Peutz–Jeghers syndrome (PJS) is a rare disorder, which is inherited as autosomal dominant. It is characterized by mucocutaneous melanotic spots and multiple hamartomatous polyps with an increased risk of cancer predispositions. PJS can present with complications such as iron-deficiency anemia as a result of bleeding from the gastrointestinal polyps and intestinal obstruction and/or intussusception if the polyps are of large size. We present a case of PJS with iron-deficiency anemia in a 16-year-old boy as a result of occult gastrointestinal bleeding from the hamartomatous gastrointestinal polyps.

Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome

To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS). Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017. Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. The pigmentation was first noticed often within 5 years old, and 14 cases had family history. The clinical manifestations mainly included black spots, abdominal pain, hematochezia, and anemia. Histological examinations showed that 20 patients were classified as hamartomatous polyps,18 as adenomatous polyps, 14 as inflammatory polyps, and 10 as zigzag polyps. Eleven patients sequenced a panel of 20 genes previously associated with colorectal cancer (CRC) by next-generation sequencing, and the results showed 5 patients with gene mutations, and 3 of them with intussusception and surgical histories were found to have pathogenic germline mutations in the STK11 gene. Endoscopic treatment was the main therapy, but endoscopy combined with laparoscopy or surgical treatment was performed when complications occurred or the polyp was too large. Malignant tumors were found in 3 patients during follow-up. Conclusion: PJS is a hereditary disease which is characterized by spots of the skin or mucosa and gastrointestinal multiple polyps. The main pathological features are hamartoma and adenoma. The risks for intussusception and surgical operation are found to be high in the patients with pathogenic germline mutations in the STK11 gene. Endoscopic treatment is the main therapy. PJS patients should be followed up regularly due to the increasing risk for cancer and being easily to relapse.

A Case of Peutz-Jeghers Syndrome in which 51 Polyps were Resected by Surgical and Intraoperative Mucosal Resection

A Case of Peutz-Jeghers Syndrome in which 51 Polyps were Resected by Surgical and Intraoperative Mucosal Resection

A Case of Peutz-Jeghers Syndrome and Eosinophilic Esophagitis: Pure Coincidence or is There a Link?

A Case of Peutz-Jeghers Syndrome and Eosinophilic Esophagitis: Pure Coincidence or is There a Link?