Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome

Zhang, Zhi; Duan, Fu-Xiao; Gu, Guo-Li; Yu, Pengfei

doi:10.3748/wjg.v26.i16.1926

Cited by 9 publications

(8 citation statements)

References 23 publications

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“…Among them, Chen et al [ 10 ] found in the comparison of familial and sporadic cases of PJS, the LKB1 gene mutation rate was as high as 85.7% in familial PJS, and it was 63.2% in all PJS patients. Some studies have confirmed the LKB1/STK11 mutation in hereditary colorectal tumor-related genes in polyp tissue of PJS patients [ 11 ]. Therefore, looking at the current research reports on PJS, it is indicated that LKB1 gene mutation is the main factor leading to the occurrence of familial PJS.…”

Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

et al. 2022

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Peutz-Jeghers syndrome (PJS) is a relatively rare autosomal dominant genetic disease, often manifested as mucous membranes, skin pigmented spots and multiple polyps in the gastrointestinal tract. It can be followed by a variety of serious complications such as bleeding, obstruction, intussusception, and malignant transformation. We introduce the case of a 26-year-old male patient who was diagnosed with multiple polyps in the jejunum with intussusception caused by PJS. He was discharged after emergency surgery reduction and partial resection of the small intestine. Gastrointestinal polyps, hemorrhage, intussusception, intestinal obstruction, and increased risk of cancer occur in patients with PJS. Currently, polypectomy under endoscopic techniques, reexamination and follow-up are the main treatment options; surgical treatment is used for bleeding, intussusception, and cancer. Therefore, it is very necessary for us to have a correct understanding of it, actively prevent it, treat it and follow these patients closely.

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Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

et al. 2022

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“…The remaining 30% of cases are represented by rearrangements for deletions, insertions, or combined mutations of larger fragments of the STK11 sequence. Patients with clinical diagnosis of PJS and with wild-type STK11 , have shown heterozygous mutation in a great variety of other genes, including APC and DNA MMR genes [ 146 ]. Mutation type does not seem to correlate with cancer risk [ 147 ] while, more recently, it has been suggested that hypomethylation of STK11 promoter in PJS polyps might represent a risk factor for gastrointestinal malignancy development [ 148 ].…”

Section: Hamartomatous Lesionsmentioning

confidence: 99%

Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations

Vanoli

Grillo

Furlan

et al. 2021

IJMS

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The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their malignant counterparts, small intestinal glandular precursor lesions, which include adenomas and hamartomas, may arise sporadically or be associated with hereditary tumor syndromes, such as familial adenomatous polyposis, MUTYH-associated polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. In addition, dysplastic, preinvasive lesions have been observed adjacent to small bowel adenocarcinomas complicating immune-related disorders, such as celiac or Crohn’s disease. Adenomatous lesions may exhibit an intestinal-type, gastric-type, or, very rarely, serrated differentiation, related to different molecular pathogenetic mechanisms. Finally, in the background of multiple endocrine neoplasia 1 syndrome, precursor neuroendocrine growths have been described. In this review we offer a comprehensive description on the histo-molecular features of the main histotypes of small bowel epithelial precursors lesions, including: (i) sporadic adenomas (intestinal-type and gastric-type; non-ampullary and ampullary); (ii) syndromic adenomas; (iii) small bowel dysplasia in celiac and Crohn’s disease; (iv) serrated lesions; (v) hamartomatous lesions; and (vi) neuroendocrine precursor lesions.

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“…80% of PJS cases were found to have mutation in the serine threonine kinase (STK11) gene also known as liver kinase B1 (LKB1) gene on chromosome 19. 1 The incidence of the disease reported as 1 out of 50000-200000 individuals. 2 It was first described by Peutz in 1921 and Jeghers in 1944 and 1949.…”

Section: Introductionmentioning

confidence: 99%

Peutz–Jeghers Syndrome: A Rare Genetic Cause of Intestinal Obstruction

2023

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Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder. The mutation is found in the serine threonine kinase (STK11)/ liver kinase B1 (LKB1) gene on chromosome 19. It impacts 1 out of 50000–200000 individuals. Clinical menifestations include hyperpigmented lesion in oral cavity, lips, fingertips and perianal region. Abdominal pain, Anaemia, Gastrointestinal (GI) bleeding, GI polyp, Intestinal obstruction (mostly due to intussusception) and malignancy are closely interlinked with the disease. We present a 21 years old lady with characteristic hyperpigmented lesions in lips and fingertips with multiple polyps in the GI tract. The patient was presented in general emergency department with abdominal pain and vomiting. Detail workout revealed the diagnosis as PJS. We have plotted the diagnosis according to the WHO criteria due to the lacking of genetic analysis facility. Patients with PJS are at high risk of intestinal and extraintestinal malignancy. Early diagnosis and polypectomy along with surveillance for recurrence may prolong cancer free lifetime. CBMJ 2023 January: Vol. 12 No. 01 P: 115- 120

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Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome

Cited by 9 publications

References 23 publications

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception

Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations

Peutz–Jeghers Syndrome: A Rare Genetic Cause of Intestinal Obstruction

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