ECE2016 Guided Posters Adrenal (10 abstracts)
The role of immunochemistry in the SDHx mutations in pheochromocytomas and paragangliomas
Anna Angelousi 1 , Kyriakopoulos Georgios 2 , Constantinou Pavlos 2 , Zografos Georgios 3 , Piaditis Georgios 3 , Xoreutaki Theodosia 3 , Rontogianni Dimitra 2 & Kaltsas Gregory 1
1Kapodistrian University of Athens, Athens, Greece; 2Evangelismos Hospital, Athens, Greece; 3Gennimatas Hospital, Athens, Greece.
Introduction: Early detection of succinate dehydrogenase complex (SDH) mutations in patients with pheochromocytoma and paragaglioma (PPC/PGL) has important implications as it is associated with increased risk for malignancy. The use of negative immunohistochemical (IHC) staining for SDH subunit B, D, A (SDHB/-D/-A) has been proposed as an indicator of SDHs mutation and as an effective substitute for the high-cost genetic screening of all of these genes.
Methods: We have performed SDHB/-D/-A immunohistochemical staining in a series of 27 paraffin embedded PPCs/PGLs specimens. Screening for point mutations by direct Sanger sequencing was performed in germline DNA from patients with potential aggressive (PASS>6) or metastatic PPCs at the initial diagnosis or in cases of PGLs.
Results: Twenty-five cases with PPCs and two with PGLs were enrolled (16 females). Three cases were metastatic at diagnosis whereas one developed metastases during follow up. Ten cases (40%) had a PASS >6. Genetic testing for germline analysis had previously been performed in 18 cases and positive results were found in six (one case was found posit if for SDHB mutation, one for familial SDHD, two for RET, one for NF1 and one for VHL mutation). The patient with the SDHB germinal mutation exhibited negative SDHB and positive SDHD/-A staining pattern. The patient with the SDHD germinal mutation exhibited negative SDHB/-D and positive SDHA staining pattern. Cases with RET, NF1 and VHL germline mutation as well as those wihout any mutations exhibited positive SDHB/-A and negative SDHD immunostaining.
Discussion: Our results are in agreement with previous series which have shown that SDHB/-D/-A immunohistochemical analysis could be a low cost technique to predict the presence of SDHx mutations.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more