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Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23

F S Dahdaleh1, J C Carr, D Calva

  • 1Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

Clinical Genetics
|August 13, 2011
PubMed

Insights

Juvenile polyposis (JP) is linked to colorectal cancer risk. This review explores microdeletions on chromosome 10q22-23 in JP patients, potentially involving PTEN and Cowden syndrome.

Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Juvenile polyposis (JP) is an autosomal dominant hamartomatous polyposis syndrome.
  • JP significantly increases the risk of colorectal cancer.
  • Severe JP, known as juvenile polyposis of infancy, is linked to BMPR1A microdeletions.

Purpose of the Study:

  • To review literature on microdeletions in chromosome 10q22-23.
  • To investigate the contiguous deletion of PTEN in JP patients.
  • To understand the genetic basis of JP and related polyposis syndromes.

Main Methods:

  • Literature review of microdeletions.
  • Analysis of genomic copy number variations.
  • Utilizing multiplex-ligation probe analysis (MLPA).

Main Results:

  • Microdeletions on chromosome 10q22-23 are found in JP patients.
  • Co-occurrence of BMPR1A and PTEN deletions is noted.
  • PTEN deletions link JP to Cowden syndrome.

Conclusions:

  • Microdeletions in 10q22-23 are implicated in JP.
  • Genetic overlap exists between JP and Cowden syndrome.
  • Further research into these deletions is warranted.

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