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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 -
Case Reports in Gastroenterology 2023A 19-year-old man with a history of Peutz-Jeghers syndrome (PJS) and two previous partial small bowel resections because of intussusception presented with lower...
A 19-year-old man with a history of Peutz-Jeghers syndrome (PJS) and two previous partial small bowel resections because of intussusception presented with lower abdominal pain. Computed tomography (CT) showed concentric multilayer and cord-like structures in the transverse colon. Colo-colonic intussusception was suspected and he was hospitalized. After two therapeutic enemas were unsuccessful, a colonoscopy was performed. The intussusception was reduced and a 40-mm transverse colon polyp with a thick stalk was resected. After the procedure, his abdominal pain was relieved and he was discharged on the sixth hospital day. This case and several previous reports suggest that PJS polyps with tumor diameter exceeding 30 mm and location in the transverse or sigmoid colon can cause intussusception. Endoscopic treatment should be considered for these lesions.
PubMed: 38020466
DOI: 10.1159/000534201 -
World Journal of Gastrointestinal... Apr 2024Peutz-Jeghers syndrome (PJS) is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11 (/) gene mutations. Preimplantation genetic...
BACKGROUND
Peutz-Jeghers syndrome (PJS) is a rare hereditary neoplastic disorder mainly associated with serine/threonine kinase 11 (/) gene mutations. Preimplantation genetic testing can protect a patient's offspring from mutated genes; however, some variations in this gene have been interpreted as variants of uncertain significance (VUS), which complicate reproductive decision-making in genetic counseling.
AIM
To identify the pathogenicity of two missense variants and provide clinical guidance.
METHODS
Whole exome gene sequencing and Sanger sequencing were performed on the peripheral blood of patients with PJS treated at the Reproductive and Genetic Hospital of Citic-Xiangya. Software was employed to predict the protein structure, conservation, and pathogenicity of the two missense variation sites in patients with PJS. Additionally, plasmids were constructed and transfected into HeLa cells to observe cell growth. The differences in signal pathway expression between the variant group and the wild-type group were compared using western blot and immunohistochemistry. Statistical analysis was performed using one-way analysis of variance. 0.05 was considered statistically significant.
RESULTS
We identified two missense gene VUS [c.889A>G (p.Arg297Gly) and c.733C>T (p.Leu245Phe)] in 9 unrelated PJS families who were seeking reproductive assistance. The two missense VUS were located in the catalytic domain of serine/threonine kinase, which is a key structure of the liver kinase B1 (LKB1) protein. experiments showed that the phosphorylation levels of adenosine monophosphate-activated protein kinase (AMPK) at Thr172 and LKB1 at Ser428 were significantly higher in transfected variation-type cells than in wild-type cells. In addition, the two missense variants promoted the proliferation of HeLa cells. Subsequent immunohistochemical analysis showed that phosphorylated-AMPK (Thr172) expression was significantly lower in gastric, colonic, and uterine polyps from PJS patients with missense variations than in non-PJS patients. Our findings indicate that these two missense variants are likely pathogenic and inactivate the gene, causing it to lose its function of regulating downstream phosphorylated-AMPK (Thr172), which may lead to the development of PJS. The identification of the pathogenic mutations in these two clinically characterized PJS patients has been helpful in guiding them toward the most appropriate mode of pregnancy assistance.
CONCLUSION
These two missense variants can be interpreted as likely pathogenic variants that mediated the onset of PJS in the two patients. These findings not only offer insights for clinical decision-making, but also serve as a foundation for further research and reanalysis of missense VUS in rare diseases.
PubMed: 38660671
DOI: 10.4251/wjgo.v16.i4.1532 -
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 -
Clinical Case Reports Oct 2023Although solitary P-J type hamartomatous polyp in the duodenum is rare, the polyp has malignant potential. We should recognize the entity and resect it with a safety...
Although solitary P-J type hamartomatous polyp in the duodenum is rare, the polyp has malignant potential. We should recognize the entity and resect it with a safety margin in case the polyp exhibits an irregular form.
PubMed: 37808567
DOI: 10.1002/ccr3.7969 -
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 -
Stem Cell Research Sep 2023We established an iPSC line (TSHSUi001-A) from a patient with Peutz-Jeghers syndrome, carrying heterozygous c.290 + 1G > A mutation in STK11 gene. Peripheral blood...
We established an iPSC line (TSHSUi001-A) from a patient with Peutz-Jeghers syndrome, carrying heterozygous c.290 + 1G > A mutation in STK11 gene. Peripheral blood mononuclear cells were reprogrammed using non-integrating delivery of OCT4, SOX2, KFL4, BCL-XL and c-MYC. The iPSC line expressed pluripotency markers, could differentiate into cells of three germ layers in vitro, and displayed a normal karyotype.
Topics: Humans; Peutz-Jeghers Syndrome; Induced Pluripotent Stem Cells; Leukocytes, Mononuclear; Mutation; Heterozygote; AMP-Activated Protein Kinase Kinases
PubMed: 37392704
DOI: 10.1016/j.scr.2023.103152 -
Orphanet Journal of Rare Diseases Oct 2023
PubMed: 37821988
DOI: 10.1186/s13023-023-02949-2