Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit

We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastom...

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Veröffentlicht in:	American journal of medical genetics. Part A 2016-04, Vol.170A (4), p.1029-1034
Hauptverfasser:	Akizawa, Yoshika, Miyashita, Toshiyuki, Sasaki, Ryo, Nagata, Reiko, Aoki, Ryoko, Ishitani, Ken, Nagashima, Yoji, Matsui, Hideo, Saito, Kayoko
Format:	Artikel
Sprache:	eng
Schlagworte:	Basal Cell Nevus Syndrome - complications Basal Cell Nevus Syndrome - diagnosis Basal Cell Nevus Syndrome - genetics Chromosomes, Human, Pair 9 Comparative Genomic Hybridization DNA Mutational Analysis Female Fibroids Gorlin syndrome Heterozygosity Humans Immunohistochemistry Laparoscopy leiomyoma Leiomyoma - complications Leiomyoma - diagnosis Leiomyoma - genetics Leiomyoma - surgery LOH Loss of heterozygosity Magnetic Resonance Imaging Maxilla Miracles Mutation Ovarian Neoplasms - complications Ovarian Neoplasms - diagnosis Ovarian Neoplasms - genetics Ovarian Neoplasms - surgery ovarian tumor Patched-1 Receptor - genetics Peripheral blood PTCH1 second hit Young Adult
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