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4 . 2022

Novel STK11 gene mutation causes Peutz–Jeghers syndrome

Abstract

Peutz–Jeghers syndrome is a rare hereditary disease characterized by gastrointestinal hamartomatous polyps with high risk of polyps malignancy and pigmented spots on the mucous membranes. Mutations in the STK11 gene, a tumor suppressor gene, are the leading genetic cause of the disease. Carriers of the genetic mutations have up to a 90% risk of developing cancer during average life expectancy. In this article we are describing a novel c.326dupA mutation in the STK11 gene found in a patient with Peutz–Jeghers syndrome. This works also discusses modern approaches to dynamic monitoring and surgical treatment of this disease.

Keywords:Peutz–Jeghers syndrome; familial hamartomatous polyposis; STK11; tumor suppressor genes; colon resection; endoscopic mucosal resection

Funding. The work was carried out within the framework of state funding for research work “Application of circulating tumor DNA in evaluation of surgical and drug treatment effectiveness in patients with colorectal cancer” (0394-2021-0011).
Conflict of interest. The authors declare no conflict of interest.
For citation: Islanov I.O., Bedzhanyan A.L., Zaklyazminskaya E.V. Novel STK11 gene mutation causes Peutz–Jeghers syndrome. Clinical and Experimental Surgery. Petrovsky Journal. 2022; 10 (4): 80–6. DOI: https://doi.org/10.33029/2308-1198-2022-10-4-80-86 (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
Sergey L. Dzemeshkevich
MD, Professor (Moscow, Russia)

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