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International Journal of Surgery Case... Apr 2024Despite being the longest and containing a greater proportion of the gastrointestinal tract's mucosal surface area, the small bowel is where <2 % to 5 % of...
INTRODUCTION AND IMPORTANCE
Despite being the longest and containing a greater proportion of the gastrointestinal tract's mucosal surface area, the small bowel is where <2 % to 5 % of gastrointestinal cancers can occur. Peutz-Jeghers syndrome is the rarest risk factor for the development of small intestinal cancers. Here we report a case of perforated poorly differentiated adenocarcinoma of the jejunum for which Peutz-Jeghers syndrome is identified.
CASE PRESENTATION
A 25-year-old male patient presented to the emergency department with generalized peritonitis caused by a perforated jejunal mass. The patient underwent an emergency exploratory laparotomy. There was 800 ml of thin pus in the peritoneal cavity and 5 cm by 6 cm perforated mass over the jejunum which extends to the mesentery. Palpable intraluminal polyps with an inverted serosal surface for some of them were identified. The pus was sucked out, and the mass was resected with its mesenteric lymph nodes and segments containing polyps. Subsequently, end-to-end hand-sewn anastomosis was performed, and the abdomen was closed. The histopathology report showed poorly differentiated adenocarcinoma, stage IIIC (PT3, PN2), and Peutz-Jeghers polyps, suggesting Peutz-Jeghers syndrome.
CLINICAL DISCUSSION
Even though small bowel malignancy is a rare entity, early detection is a challenging issue, especially when it happens below the ligaments of the trietz. Surgical resection offers the only potential cure for small bowel malignancy.
CONCLUSION
We conclude that patients with long-term, nonspecific abdominal complaints are good candidates for evaluation and investigation without overlooking small bowel malignancy. Peutz-Jeghers syndrome was a potential risk factor in our case.
PubMed: 38471213
DOI: 10.1016/j.ijscr.2024.109519 -
Journal of Medical Case Reports Mar 2024Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding...
BACKGROUND
Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies.
CASE DESCRIPTION
We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well.
CONCLUSION
Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.
Topics: Female; Humans; Adolescent; Peutz-Jeghers Syndrome; Stomach; Duodenum; Intestine, Large; Polyps
PubMed: 38438911
DOI: 10.1186/s13256-023-04335-9 -
Hereditary Cancer in Clinical Practice Feb 2024Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal...
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review.
BACKGROUND
Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS.
CASE PRESENTATION
Here, we report a case of PJS in a 24-year-old female with multiple mucocutaneous black macules who complained of vaginal discharge and menorrhagia. Moreover, we first described the multimodal ultrasonographical manifestations of PJS-correlated G-EAC. The three-dimensional reconstructed view of G-EAC on 3D realisticVue exhibited a distinctive "cosmos pattern" resembling features on magnetic resonance imaging, and the contrast-enhanced ultrasound displayed a "quick-up and slow-down" pattern of the solid components inside the mixed cervical echoes. We reported the multimodal ultrasonographical characteristics of a case of PJS-related G-EAC, as well as reviewed PJS-related literature and medical imaging features and clinical characteristics of G-EAC to provide insight into the feasibility and potential of utilizing multimodal ultrasonography for the diagnosis of G-EAC.
CONCLUSIONS
Multimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS.
PubMed: 38419118
DOI: 10.1186/s13053-024-00275-7 -
ACG Case Reports Journal Feb 2024Endoscopic polypectomy is essential for the prevention of Peutz-Jeghers syndrome-associated complications, including intussusception, intestinal obstruction, and...
Endoscopic polypectomy is essential for the prevention of Peutz-Jeghers syndrome-associated complications, including intussusception, intestinal obstruction, and malignant transformation. Conventional polypectomy is the preferred approach, but it can be challenging to achieve in patients with Peutz-Jeghers syndrome because of the high polyp burden and polyps located in areas with difficult endoscopic access. This case report highlights 2 different techniques of ischemic polypectomy and its advantage compared with conventional polypectomy in this subset of patients.
PubMed: 38313383
DOI: 10.14309/crj.0000000000001272 -
Endoscopy International Open Jan 2024
PubMed: 38292589
DOI: 10.1055/a-2197-3953 -
Endoscopy International Open Jan 2024Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disorder characterized by the formation of hamartomatous polyps in the gastrointestinal tract. These...
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disorder characterized by the formation of hamartomatous polyps in the gastrointestinal tract. These polyps result in significant morbidity due to adverse events (AEs) including intestinal obstruction, bleeding, and malignancy. The aim of this study was to describe the role of device-assisted enteroscopy (DAE) in monitoring and prophylactic polypectomy within the small bowel. Electronic medical records were surveyed to identify all DAE procedures performed in patients with PJS at three US referral centers between January 1, 2007 and January 1, 2020. Individual charts were reviewed to collect and analyze specific data points. Primary end points included AEs associated with DAE-related polypectomy and the rate of laparotomy in PJS patients prior to, and following, index DAE. Secondary data points included patient characteristics, procedural details, and size/location/distribution of small bowel hamartomas. Twenty-three patients met our inclusion criteria. Of these, 18 (75%) had previously undergone small bowel surgery prior to index DAE. Between 2007 and 2020, 46 DAEs were performed in these patients with an average of one exam every 2.5 years. A total of 131 polypectomies were performed with an AE rate of 1.5%. None of our cohort required emergent surgery related to AEs of small bowel hamartomas over 336 years of aggregated follow-up. Endoscopic management of small bowel polyps in patients with PJS using DAE is an effective strategy for prophylactic removal of hamartomas. DAE surveillance and endoscopic polypectomy is safe and may decrease the need for repeated laparotomy in patients with PJS.
PubMed: 38292586
DOI: 10.1055/a-2197-8554 -
Clinical and Translational Medicine Jan 2024The understanding of the heterogeneous cellular microenvironment of colonic polyps in paediatric patients with solitary juvenile polyps (SJPs), polyposis syndrome (PJS)...
BACKGROUND
The understanding of the heterogeneous cellular microenvironment of colonic polyps in paediatric patients with solitary juvenile polyps (SJPs), polyposis syndrome (PJS) and Peutz-Jeghers syndrome (PJS) remains limited.
METHODS
We conducted single-cell RNA sequencing and multiplexed immunohistochemistry (mIHC) analyses on both normal colonic tissue and different types of colonic polyps obtained from paediatric patients.
RESULTS
We identified both shared and disease-specific cell subsets and expression patterns that played important roles in shaping the unique cellular microenvironments observed in each polyp subtype. As such, increased myeloid, endothelial and epithelial cells were the most prominent features of SJP, JPS and PJS polyps, respectively. Noticeably, memory B cells were increased, and a cluster of epithelial-mesenchymal transition (EMT)-like colonocytes existed across all polyp subtypes. Abundant neutrophil infiltration was observed in SJP polyps, while CX3CR1 CD8 T cells and regulatory T cells (Tregs) were predominant in SJP and JPS polyps, while GZMA natural killer T cells were predominant in PJS polyps. Compared with normal colonic tissues, myeloid cells exhibited specific induction of genes involved in chemotaxis and interferon-related pathways in SJP polyps, whereas fibroblasts in JPS polyps had upregulation of myofiber-associated genes and epithelial cells in PJS polyps exhibited induction of a series of nutrient absorption-related genes. In addition, the TNF-α response was uniformly upregulated in most cell subsets across all polyp subtypes, while endothelial cells and fibroblasts separately showed upregulated cell adhesion and EMT signalling in SJP and JPS polyps. Cell-cell interaction network analysis showed markedly enhanced intercellular communication, such as TNF, VEGF, CXCL and collagen signalling networks, among most cell subsets in polyps, especially SJP and JPS polyps.
CONCLUSION
These findings strengthen our understanding of the heterogeneous cellular microenvironment of polyp subtypes and identify potential therapeutic approaches to reduce the recurrence of polyps in children.
Topics: Humans; Child; Colonic Polyps; CD8-Positive T-Lymphocytes; Endothelial Cells; Cellular Microenvironment; Cell Communication
PubMed: 38264936
DOI: 10.1002/ctm2.1535 -
Annals of Medicine and Surgery (2012) Jan 2024In addition to extra gastrointestinal hamartomatous polyps, Peutz-Jeghers syndrome (PJS), a rare but well-known hereditary disorder, generates mucocutaneous lesions that...
INTRODUCTION AND IMPORTANCE
In addition to extra gastrointestinal hamartomatous polyps, Peutz-Jeghers syndrome (PJS), a rare but well-known hereditary disorder, generates mucocutaneous lesions that resemble certain coloured freckles and gastrointestinal symptoms. Intussusception or polyps blocking the gastrointestinal lumen are examples of PJS consequences. Additionally, the polyps may cause ongoing bleeding that causes anaemia.
CASE PRESENTATION
A 15-year-old male patient with generalized stomach discomfort, frequent vomiting, and decreased appetite reported to the hospital's ambulance department. A month and a half prior, the patient underwent a surgical laparotomy for intussusception. The clinical examination revealed many pigmentations near the mouth. The specialists decided to do an urgent laparotomy on the patient, during which a 60 mm necrotic intestinal intussusception was observed. The patient had an ileoileostomy and an amputation, and a pathology test discovered numerous benign hamartomatous polyps in the sample."Putz-Jeghers Syndrome" had been determined to be the ultimate diagnosis.
CLINICAL DISCUSSION
It is autosomal dominant and more prevalent in children and teenagers. According to some research, 30% of diseases are passed from parents to children while 70% may result from gene mutations.
CONCLUSION
There is no evidence that the transformation of hamartomatous polyps led to the neoplastic tumours in these patients. It is suggested to carry out a complete screening program and detect PJS early in order to prevent gastrointestinal problems and dangerous malignancies.
PubMed: 38222689
DOI: 10.1097/MS9.0000000000001618 -
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