Description

Hereditary Mixed Polyposis is a rare hereditary disorder with multiple types of polyps in the colon.


Inheritance: autosomal dominant

 

Chromosome location: 15q13-q14

Genetic locus: GREM1 (gremlin 1), which belongs to the bone morphogenic protein (BMP) antagonist family; also SCG5

Abnormality: duplication of GREM1

 

Additional implicated sites:

(1) mutations of BMPR1A at 10q23.2

(2) 6q

 

The key feature consists of multiple different types of polyps in the large colon:

(1) polyps that show mixed features of hyperplastic and inflammatory polyps. These may resemble juvenile polyp grossly.

(2) serrated adenomas

(3) other adenomas

(4) Peutz-Jegher type polyps

(5) other types of polyps (hyperplastic, prolapse-type)

(6) lymphoid aggregates

 

The patient is at risk for colon adenocarcinomas arising out of the polyps.


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