We report a clinical case of a diffuse thyroid lipomatosis, whose immunohistochemical study of succinate dehydrogenase - subunit B (SDHB) revealed loss of expression of this protein in the follicular or adipose cells. We detected the presence of a recently described SDHB gene large deletion. Loss ...
Unfortunately, there are still no markers that can reliably distinguish a benign from a malignant pheochromocytoma, although germline mutations in the SDHB gene, PASS (pheochromocytoma of adrenal gland scaled score) >4, size and pheochromocytoma weight, Ki-67 index >4%, and lack of pS100 appear...
Immuno- staining for SDHA and SDHB has recently been shown to be effective in identifying tumors deficient in succinate dehydrogenase activity,10 the signi- ficance of which is discussed below. Oncogenic mutations in GISTs KIT In 1998, Hirota et al7,8 published their breakthrough discovery of ...
Looking for online definition of SDH or what SDH stands for? SDH is listed in the World's most authoritative dictionary of abbreviations and acronyms
Loss of SDHB expression is regarded as a surrogate marker for some of the familial paraganglioma syndromes caused by SDHx mutations (36); therefore, immunohistochemical testing for SDHB has become a part of the routine assessment of these lesions in many centers. Protocol for the Examination of ...
Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach. Int J Oncol 2006;28:1361–1367. CAS PubMed Google Scholar Liu XH, Bai CG, Xie Q et al. Prognostic value of KIT mutation in gastrointestinal ...
VHLvon Hippel-Lindau gene VHLVista Higher Learning, Inc.(language program publisher; Boston, MA) VHLVirax Holdings Limited(finance company) VHLVan Hasseltlaan(Delft University of Technology, Netherlands) VHLVallejo-Henry-Lecuyer(French musical trio) ...
This is now recognized as a variant form of Brooke-Spiegler syndrome (spiradenoma, cylindroma, and trichoepithelioma) caused by germline mutation in the CYLD gene. Skin Adnexal Tumors in Plain Language: A Practical Approach for the General Surgical Pathologist Szell, "Phenotype-genotype correlation...
(VHL), which is due to a mutation in the VHL (von Hippel-Lindau tumor suppressor) gene; neurofibromatosis type 1 (NF1), caused by mutation in the NF1 (neurofibromin 1) gene; and mutations in succinate dehydrogenase (SDH) subunits B, C, and D, which are encoded by the SDHB [...
Looking for online definition of EPAS1 or what EPAS1 stands for? EPAS1 is listed in the World's most authoritative dictionary of abbreviations and acronyms