Juvenile polyposis syndrome: An overview

What is causing this child's rectal bleeding?

“…Juvenile polyposis syndrome is a rare autosomal dominant condition that causes the formation of multiple polyps along the gastrointestinal tract 1. About half of the patients with this syndrome have a mutation of the SMAD4 and or BMPR1A gene that inhibits apoptosis pathways, leading to hamartomatous polyps 1. In the United States, the incidence of juvenile polyposis syndrome is 1 in 100,000 and the average age of diagnosis is 18.5 years 1.…”

“…Other signs and symptoms include rectal prolapse, diarrhea, and abdominal pain due to obstruction. Patients with the SMAD4 mutation have extraintestinal manifestations combined with hereditary hemorrhagic telangiectasia (HHT) 1. Patients with HHT will have frequent epistaxis, iron deficiency anemia, and telangiectasia of the buccal mucosa and skin.…”

“…1 About half of the patients with this syndrome have a mutation of the SMAD4 and or BMPR1A gene that inhibits apoptosis pathways, leading to hamartomatous polyps. 1 In the United States, the incidence of juvenile polyposis syndrome is 1 in 100,000 and the average age of diagnosis is 18.5 years. 1 Patients with a family history of juvenile polyposis syndrome are at high risk of acquiring the disease at a young age and carry a 39% cumulative risk of developing colorectal cancer in their lifetime.…”

Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine

“…Juvenile polyposis syndrome (JPS) is also an inherited autosomal dominant syndrome driven by mutations in either BMPR1A (MIM: 601299) or SMAD4 (MIM: 600993) [ 19 ]. Patients with JPS are characterized by multiple hamartomatous polyps in the gastrointestinal tract, primarily colon polyps, occasionally stomach polyps, and infrequently small intestine polyps.…”

“…PTEN can negatively regulate the activity of the PI3K/AKT signaling pathway, thus inhibiting the occurrence and development of tumors. In total, 50–60% of JPS cases are caused by mutations in SMAD4 and BMPR1A , and both of them are implicated in TGFβ signaling, which regulates cell proliferation and differentiation [ 19 ]. Although there are no clear mutations detected in the remaining 40%–50% of patients, the mutation in ENG (MIM: 131195) and SMAD9 (MIM:603295) has been reported in a small number of patients, which are also involved in the TGFβ signaling.…”