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Cureus Apr 2022A 20-year-old female patient with a family history significant for Peutz-Jeghers syndrome presented to the hospital multiple times with complaints of abdominal pain....
A 20-year-old female patient with a family history significant for Peutz-Jeghers syndrome presented to the hospital multiple times with complaints of abdominal pain. On the initial visit to the hospital, the patient underwent small bowel resection for small bowel obstruction secondary to intussusception, following which she visited the hospital again one year later for similar complaints and underwent reduction of multiple points of intussusception of the small bowel without any resection of the same. Eventually, the patient underwent resection of the small bowel for the second time, along with tumor resections. The importance of follow-up in patients with Peutz-Jeghers is particularly essential, in part, because it is vital to monitor the tumors, their size, and number to prevent surgical intestinal complications, anemia, and also to eventually monitor for carcinomatous changes.
PubMed: 35530863
DOI: 10.7759/cureus.23792 -
World Journal of Gastroenterology Aug 2014Peutz-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... (Review)
Review
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 small-bowel. 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 small-bowel 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.
Topics: Adult; Biopsy; Diagnostic Imaging; Endoscopy, Gastrointestinal; Humans; Intestine, Small; Magnetic Resonance Imaging; Male; Middle Aged; Multidetector Computed Tomography; Peutz-Jeghers Syndrome; Predictive Value of Tests; Young Adult
PubMed: 25152588
DOI: 10.3748/wjg.v20.i31.10864 -
International Journal of Surgery Case... Aug 2023Peutz-Jeghers syndrome is an inherited disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Treatment of the...
INTRODUCTION
Peutz-Jeghers syndrome is an inherited disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Treatment of the polyps is never definitive, with most patients needing several laparotomies. For this reason, surgeons should be economical in terms of surgical resection to prevent a short bowel syndrome in the long run. In this paper, we report two observations of patients presented a Peutz Jeghers syndrome (PJS).
CASES PRESENTATION
Case report 1: A 32-year-old women, who was operated on for an intestinal perforation related to a Peutz-jeghers hamartoma of the small bowel and was later re operated on for colonic intussusception, Case report 2: A 15-year-old patient that has been operated on three times already for small bowel intussusception and later for duodenal obstruction.
CLINICAL DISCUSSION
In an attempt to reduce complications, the 2010 guidelines updated in 2021 by the European Hereditary Tumor group introduced obligatory monitoring by fibroscopy and colonoscopy associated with an entero-MRI or a videocapsule from the age of 8 years. Laparotomy is indicated when endoscopic treatment is impossible or in emergency setting. When surgery is indicated, intestinal resection should be reserved for rare cases in order to avoid short bowel syndrome. The association of an intraoperative endoscopic treatment is recommended by some authors.
CONCLUSION
Peutz Jeghers syndrome is a rare entity with a complicated surveillance. Adequate polyp mapping is necessary for adequate planning of the treatment. The need for multiple laparotomies makes a comprehensive approach to surgery mandatory to prevent short bowel syndrome.
PubMed: 37506527
DOI: 10.1016/j.ijscr.2023.108511 -
Journal of Indian Association of... 2023Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disease presenting with hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on lips and...
INTRODUCTION
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.
MATERIALS AND METHODS
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.
RESULTS
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.
CONCLUSION
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.
PubMed: 37389385
DOI: 10.4103/jiaps.jiaps_197_21 -
The Surgical Clinics of North America Aug 2008Since the histologic description of the hamartomatous polyp in 1957 by Horrilleno and colleagues, descriptions have appeared of several different syndromes with the... (Review)
Review
Since the histologic description of the hamartomatous polyp in 1957 by Horrilleno and colleagues, descriptions have appeared of several different syndromes with the propensity to develop these polyps in the upper and lower gastrointestinal tracts. These syndromes include juvenile polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the phosphatase and tensin homolog gene (PTEN) hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. This article reviews the clinical aspects, the molecular pathogenesis, the affected organ systems, the risks of cancer, and the management of these hamartomatous polyposis syndromes. Although the incidence of these syndromes 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 patients at risk.
Topics: Diagnosis, Differential; Digestive System Surgical Procedures; Endoscopy, Gastrointestinal; Genetic Predisposition to Disease; Humans; Peutz-Jeghers Syndrome; Prognosis
PubMed: 18672141
DOI: 10.1016/j.suc.2008.05.002 -
BioMed Research International 2020Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the gene. It is characterized by mucocutaneous...
BACKGROUND
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.
AIMS
We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations.
METHODS
Thirty-eight patients clinically diagnosed with Peutz-Jeghers syndrome were included in this study from 2016 to 2019. Combined direct sequencing and multiplex ligation-dependent probe amplification tests were used to detect germline heterogeneous mutations. RNA sequencing was performed in polyps of PJS patients and control groups to evaluate the difference in expression of . The genotype-phenotype correlations were calculated by Kaplan-Meier analyses.
RESULTS
All 26 probands and 12 affected relatives had germline heterogeneous mutations among which 8 variants were novel. Individuals with missense mutations had their first surgery and other symptoms significantly later than individuals with null mutations.
CONCLUSION
This study expanded the spectrum of gene mutations and further elucidated individuals with null mutations of typically had an earlier onset of PJS symptoms and needed earlier management.
Topics: AMP-Activated Protein Kinase Kinases; Adolescent; Adult; Asian People; Child; Child, Preschool; China; Cohort Studies; Female; Germ-Line Mutation; Humans; Male; Middle Aged; Peutz-Jeghers Syndrome; Protein Serine-Threonine Kinases; Young Adult
PubMed: 32462036
DOI: 10.1155/2020/9159315 -
International Journal of Clinical and... 2023Female pathological tumors are easily misdiagnosed and missed in clinical practice. Especially in patients with Peutz-Jeghers syndrome (PJS) who often have a variety of...
Female pathological tumors are easily misdiagnosed and missed in clinical practice. Especially in patients with Peutz-Jeghers syndrome (PJS) who often have a variety of rare types of gynecological tumors. We reported a patient with a case of PJS with a lower abdominal mass as the clinical manifestation. Physical and auxiliary examinations showed a large pelvic and abdominal mass. According to the patient's PJS history, gastric adenocarcinoma (GAC) was diagnosed after timely cervical biopsy. The patient underwent abdominal and pelvic mass resection and extensive hysterectomy. The tumor extensively disseminated to the bilateral ovaries, endometrium, fallopian tubes and pelvis. The cyclin-dependent kinase inhibitor 2A gene mutation was demonstrated in cervical GAC samples using next-generation sequencing. We summarized the literature on PJS accompanied by GAC with metastases to bilateral ovaries and analyzed the clinical characteristics of female patients with PJS combined with multiple gynecological tumors. Being aware of the PJS history of the patient is helpful for the standardized diagnosis and treatment of PJS-related gynecological tumors.
PubMed: 38188351
DOI: No ID Found -
Clinics in Colon and Rectal Surgery Dec 2016Hamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical... (Review)
Review
Hamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz-Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.
PubMed: 31777464
DOI: 10.1055/s-0036-1582441 -
Gastroenterology Research and Practice 2013Objective. Balloon enteroscopy (BE) and capsule enteroscopy (CE) are enteroscopy methods that allow examination and treatment of the small bowel. Before the CE and BE...
Objective. Balloon enteroscopy (BE) and capsule enteroscopy (CE) are enteroscopy methods that allow examination and treatment of the small bowel. Before the CE and BE era, the small intestine was difficult to access for investigation. Small intestinal tumours are infrequent conditions, but about half of them are malignant. Materials and Methods. A total of 303 BEs were performed in 179 patients. Oral insertion was performed in 240 and anal in 63 BEs. Indications for the procedure in our patients with small bowel tumours were anaemia and/or bleeding, obstruction, suspicion of carcinoid tumour, or suspicion of Peutz-Jeghers syndrome. Results. In 50 of our 179 patients (28%), we diagnosed some small intestinal tumours: hamartomas in Peutz-Jeghers syndrome in 16 patients, adenocarcinoma in 7, lymphoma in 6, carcinoid tumour in 4, melanoma and stromal tumour in 3, adenoma, lipoma, and inflammatory polyps in 2, and granular cell tumour, cavernous lymphangioma, fibrolipoma, Cronkhite-Canada polyps, and metastatic involvement in individual cases. Conclusion. BE facilitates exploration and treatment of the small intestine. The procedure is generally safe and useful. BE and CE are essential modalities for the management of small intestinal diseases.
PubMed: 24348540
DOI: 10.1155/2013/702536 -
World Journal of Clinical Cases Feb 2020Peutz-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...
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.
PubMed: 32110669
DOI: 10.12998/wjcc.v8.i3.577