Abstract Library

#527 Pheochromocytoma Molecular Analysis After Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect

Introduction: In SDHD mutation families, paragangliomas and pheochromocytomas usually occur only after paternal transmission of the mutation. This important but unexplained parent-of-origin effect is not due to imprinting of the SDHD gene itself (as was initially suspected) since SDHD is biallelically expressed.

Conference: 9th Annual ENETSConcerence (2012)

Presenting Author:

Authors: Tobias E, Yeap P, Mavraki E, Fletcher A, Freel M,

Keywords: SDHD, imprinting, paraganglioma,

#362 Succinate Dehydrogenase (SDH) Complex Expression in Pancreatic Endocrine Tumours (PETs)

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.

Conference:

Presenting Author:

Authors: Vinagre J, Preto J, Soares P, Lopes J,

Keywords: PETs SDH LOH,