Introduction: Absence of SDH subunit D (SDHD) mutations were reported by Perren et al (Oncogene 2002) but loss of heterozigosity (LOH) was described in 29% of the PETs. Since SDHD gene may depict a form of genomic imprinting in neuroendocrine (NE) tissue, the reported LOH may drive activation of the hypoxia pathway. Taking advantage from the immunohistochemical (IHC) method for genetic triage we may deduce the mutational status of SDH subunits (A, B, C and D) based on IHC SDHB expression. These subunits are striking candidates as they are mutated in other NE neoplasias.
Aim(s): Our aim was to evaluate by IHC if mutations of the SDH subunits are present in PETs. Additionally, by expression profiling, to establish if the reported SDHD LOH has a role in PETs tumorigenesis.
Materials and methods: Evaluation of 18 PETs using IHC of SDHA, SDHB, SDHD, GLUT-1 and CA9.
Presenting Author: Mr João Vinagre
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