Ann Surg Treat Res.  2014 Jun;86(6):325-330. 10.4174/astr.2014.86.6.325.

Peutz-Jeghers syndrome with germline mutation of STK11

• Chae HD
• Jeon CH

• KMID: 2167111
• DOI: http://doi.org/10.4174/astr.2014.86.6.325

Abstract

Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.

Keyword

Peutz-Jeghers syndrome; Intussusceptions; STK11

MeSH Terms

Child
Female
Germ-Line Mutation*
Humans
Incidence
Intestine, Small
Intussusception
Lentigo
Peutz-Jeghers Syndrome*
Polyps
Protein-Serine-Threonine Kinases
Protein-Serine-Threonine Kinases

Figure

• 

  Fig. 1 Pedigree of the family with Peutz-Jeghers syndrome. Circle, female; square, male; black symbol, affected; The proband is indicated by the arrow. Family history is significant for death from ovarian cancer at 41 years for maternal grandmother, death from colon cancer at 32 years for her mother, and colon cancer at 34 years for maternal aunt.

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  Fig. 2 Physical examination. The melanotic pigmentated macules are dark brown, 1-5 mm in size, and located on the lips (A), hands (B), and feet (C).

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  Fig. 3 Operative findings shows two jejuno-jejunal intussusceptions (arrows) invaginated over two polyps (A), and after intussusceptions are manually reduced, two polyps (arrowheads) are removed by enterotomy (B).

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  Fig. 4 The chromatogram of sequence analysis. The patient has a heterozygous missense mutation of codon 303 (c.303C > G, I303M). Panels A and B show the result of forward and reverse sequencing respectively. Mutation site is marked with an arrow.

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