State of the art paper Juvenile polyposis syndrome

Abstract

Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor β pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis.

Juvenile polyposis syndrome with extraintestinal anomalies: report of a rare case with review of literature

“…An aberration in signal pathway controlling the structure of intestinal mucosa leads to the occurrence of hamartomatous polyps which are described as "incorrectly set" proper cells. 4 The development of juvenile polyposis is associated with mutations in one of the two genes connected with TGF-β/BMP signal pathway: BMPR1A and SMAD4 with a frequency of 20% each in JPS. 5 Hamartomatous polyposis syndromes include PeutzJeghers syndrome, JPS, Cowden's syndrome and Ruvalcaba-Myhre-Smith syndrome.…”

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer

“…JPS is diagnosed with numerous colon and rectum polyps or polyps with family history or juvenile polyps inside and outside of the intestine [103] . 20%-50% of JPS demonstrates familial pattern and the average disease onset of cases are 16 to 18 [103] . JPS may coexist with Osler-Weber-Rendu syndrome [hereditary hemorrhagic telangiectasia (HHT)].…”

“…These mutations include point mutations that are resulting with a stop codon or a change in the coded amino acid into another one, codons 361, 533 and 534 mutations, small deletions and insertions [103] . Specifically, Howe et al [106] determined the mutation, c. [75] MYC Gene activation Obrador-Hevia et al [79] AXIN2 Gene activation Obrador-Hevia et al [79] SFRP1 Gene activation Obrador-Hevia et al [79] GSTT1 Polymorphism Lamberti et al [74] MGMT Methylation Wynter et al [86] p14ARF Methylation Wynter et al [86] p16INK4 Methylation Wynter et al [86] IGSF4 Methylation Berkhout et al [85] TIMP3 Methylation Berkhout et al [85] ESR1 Methylation Berkhout et al [85] CDH13 Methylation Berkhout et al [85] miRNA miR-143 Down regulation Kamatani et al [87] miR-145 Down regulation Kamatani et al [87] miR-126 Down regulation Yamaguchi et al [88] miR-20b Down regulation Yamaguchi et al [88] c.231 C > T Japan Miyaki et al [99] c.934-2A > C Japan Miyaki et al [99] c.1376C > A Finland Alhopuro et al [100] c.933 + 3A > C North-Eastern Italy, Germany Pin et al [101] c.536A > G Caucasians Yamaguchi et al [92] c.1187 G > A Caucasians Yamaguchi et al [92] [103] . Yamaguchi et al [107] identified a BMPR1A mutation, which involves a duplication of coding exon 3 (c.230þ452_333þ441dup1995) that causes a frameshift mutation, producing a truncated protein (p.D112NfsX2) in a patient with JPS (Table 5).…”

A 15 year old girl presented with rectal bleeding, growth failure, digital clubbing and mental retardation

“…13 The prevalence of juvenile polyposis syndrome is estimated 1:100000. 5 Alam et al (2017) showed in a study of 326 Bangladeshi children presented with per rectal bleeding, the incidence of juvenile polyposis syndrome is 1.5%.…”