J Endocr Soc 2021 Jul 8;5(7):bvab087. Epub 2021 May 8.
Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Ossifying fibromas are very rare tumors that are sometimes seen as part of the hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is caused by inactivating mutations of the tumor suppressor gene mutations have been identified in a subset of sporadic cases but aberrant expression of the encoded protein, parafibromin, has not been demonstrated in ossifying fibroma. We sought to determine if loss of parafibromin regularly contributes to the development of sporadic, nonsyndromic ossifying fibroma. We examined a series of 9 ossifying fibromas, including ossifying, cemento-ossifying, and juvenile active variants, for parafibromin protein expression by immunohistochemistry and for sequence abnormalities by Sanger sequencing and/or targeted AmpliSeq panel sequencing. Read More