Parathyroid tumor development involves deregulation of homeobox genes

• DOI: 10.1677/erc-07-0191
• Publication Date: 2008-02-29T16:30:45Z
• Authors: H-C J. Shen; J. E Rosen; L. M Yang; S. A Savage; A L. Burns; C. M Mateo; S. K Agarwal; S. C Chandrasekha...; A. M Spiegel; F. S Collins; S. J Marx; S. K Libutti
• Keywords: MEN1

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome caused by mutations in the MEN1 tumor suppressor gene. Loss of functional second copy gene causes individuals to develop multiple tumors, primarily affecting parathyroid, pituitary, and pancreas. While it clear that protein encoded MEN1, menin, suppresses its biochemical functions direct downstream targets remain unclear. Recent studies have suggested menin may act as a scaffold coordinate transcription, oncogenic cofactor for homeobox (HOX) expression hematopoietic cancer. The role HOX genes adult cell differentiation still obscure, but growing evidence suggests they play important roles development Therefore, we hypothesized specific were regulated parathyroid development. Utilizing quantitative TaqMan RT-PCR, compared profiles 39 human familial (fMEN1) tumors sporadic adenomas with normal samples. We identified large set 23 whose deregulation fMEN1 only 5 misexpression are These findings provide first loss associated tumors. Our results strongly reinforce idea abnormal developmental can be critical cancer progression.