Abstract
BackgroundPeutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP and intussusception in childhood are more frequent and severe than in adults.Case presentationWe report here a girl without a positive family history, who grew oral and fingertip MP at her age of 2 and got abdomen dull pain from 7 years old. Endoscopy revealed no obvious polyps in the stomach or the colon until 10 years old, when she received enteroscopy. Tens of polyps were resected during enteroscopy, and pathological examination confirmed them hamartomas. A heterozygous deletion in STK11, c.471_472delCT, was detected in the proband but not in her parents, which is not recorded in databases.ConclusionThe mutation we reported here is a novel one and a de-novo one, so our results enlarge the spectrum of STK11. We speculate close and regular endoscopy especially enteroscopy is necessary for complication prevention when the former endoscopy discovers no polyps temporarily in a child of suspect PJS.
Highlights
Peutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk
We speculate close and regular endoscopy especially enteroscopy is necessary for complication prevention when the former endoscopy discovers no polyps temporarily in a child of suspect PJS
We report a 11 year-old PJS girl without a positive family history characterized by MP and GI polyps, and Sanger sequencing confirmed a novel mutation in Serine/threonine kinase 11 (STK11) (c.471_472delCT) as the causative one
Summary
Evolutionary conservation analysis present the pathological effect of it, we conclude that this mutation is disease-specific and not a polymorphic variant of the STK11 gene. Among reported STK11 mutations (HGMD), most variants are located in the region of catalytic kinase domain (amino acids 49–309) which leads to the loss of kinase activity [11] In this case, the mutant protein lacks main functional domains compared to the wild type, so the novel mutation probably a pathogenic one. For children without a family history, PJS is hard to diagnose until they suffer from severe GI complications [12] On this condition, an open surgery is often unpreventable. Belsha et al [15] proved that polypectomy by DBE is effective in managing pediatric patients with PJS by a cohort of 16 patients with 6 years follow-up Another lesson brought by this case is that PJS polyps are easy to grow in children, which justifies the close followup after negative endoscopy.
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