What causes DFSP?
Changes in chromosomes (genetic material) are a major cause of abnormal genetic conditions in humans. If a change involves a translocation, part of a chromosome breaks off and attaches to another chromosome. In rare cases, the broken parts can attach to themselves forming ring structures. Chromosomal translocations and/or ring chromosomes which fuse the collagen gene on chromosome 17 to the platelet-derived growth factor gene, known as PDGFR, on chromosome 22 are present in nearly all cases of DFSP. Abnormal activation of the platelet-derived growth factor receptor gene produces an abnormal protein that adversely impacts normal cellular processes, causing cells to multiply out of control.
