Ovarian Fibroma in Gorlin Syndrome
Image Description
Gorlin syndrome - Molecular Genetics: Gorlin syndrome is an autosomal dominant disorder with complete penetrance but variable expression. Mutations in three tumor suppressor genes in the sonic hedgehog pathway have been identified. The most common being mutations in PTCH1 (9q22.32), followed by PTCH2 (1p34.1) and SUFU (10q24.32).
Spontaneous mutations account for a significant proportion of the cases of Gorlin syndrome. In sporadic cases, about 25% of conventional fibromas and 50% of cellular fibromas show loss of heterozygosity at 9q22.3 near the location of PTCH gene. Sonic hedgehog pathway is involved in cell proliferation, embryological patterning, and development of neural tube, pharyngeal pouches, somites, and limb buds.
Case History: The image shows ovarian fibroma from a case of Gorlin syndrome. The patient was a 30 y/o female with a calcified unilateral ovarian fibroma, history of multiple basal cell carcinomas excised from face and trunk starting at age 20 years, odontogenic keratocysts causing facial asymmetry and dental abnormalities, and multiple skeletal abnormalities (micrognathism, kyphoscoliosis). The granular, yellow-white foci near the top of the image were calcified areas. The diagnosis of Gorlin syndrome was made on clinical features. There was no family history and no genetic testing was performed.
Spontaneous mutations account for a significant proportion of the cases of Gorlin syndrome. In sporadic cases, about 25% of conventional fibromas and 50% of cellular fibromas show loss of heterozygosity at 9q22.3 near the location of PTCH gene. Sonic hedgehog pathway is involved in cell proliferation, embryological patterning, and development of neural tube, pharyngeal pouches, somites, and limb buds.
Case History: The image shows ovarian fibroma from a case of Gorlin syndrome. The patient was a 30 y/o female with a calcified unilateral ovarian fibroma, history of multiple basal cell carcinomas excised from face and trunk starting at age 20 years, odontogenic keratocysts causing facial asymmetry and dental abnormalities, and multiple skeletal abnormalities (micrognathism, kyphoscoliosis). The granular, yellow-white foci near the top of the image were calcified areas. The diagnosis of Gorlin syndrome was made on clinical features. There was no family history and no genetic testing was performed.