ArticleWorld journal of gastroenterology2016
Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant.
Article in World journal of gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 14 citations in OpenAlex.
- [Clinical features of intestinal polyps and risk factors for secondary intussusception in children: an analysis of 2 669 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.Orphanet journal of rare diseases · 2021Article
- A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report.Medicine · 2017Article
- Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis.American journal of translational research · 2017Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate multiple polyps in a Chinese Peutz-Jeghers syndrome (PJS) infant.
methodsA nine-month-old PJS infant was admitted to our hospital for recurrent prolapsed rectal polyps for one month. The clinical characteristics, a colonoscopic image, the pathological characteristics of the polyps and X-ray images of the intestinal perforation were obtained. Serine threonine-protein kinase 11 (STK11) gene analysis was also performed using a DNA sample from this infant.
resultsHere we describe the youngest known Chinese infant with PJS. Five polyps, including a giant polyp of approximately 4 cm × 2 cm in size, were removed from the infant's intestine. Laparotomy was performed to repair a perforation caused by pneumoperitoneum. The pathological results showed that this child had PJS. Molecular analysis of the STK11 gene further revealed a novel frameshift mutation (c.64_65het_delAT) in exon 1 in this PJS infant.
conclusionThe appropriate treatment method for multiple polyps in an infant must be carefully considered. Our results also show that the STK11 gene mutation is the primary cause of PJS.
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