ECE2006 Poster Presentations Endocrine tumours and neoplasia (116 abstracts)
Analysis of succynyl dehydrogenase (SDH) subunits gene mutations in patients with paragangliomas
A Krawczyk 1 , K Hasse-Lazar 1 , A Pawlaczek 1 , D Rusinek 1 , S Szpak-Ulczok 1 , M Peczkowska 2 , A Preibisz 2 , A Kubaszek 2 , E Gubala 1 , A Januszewicz 2 & B Jarzab 1
1Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Center and Institute of Oncology, Gliwice, Poland; 2Department of Hypertension, National Institute of Cardiology, Warsaw, Poland.
Tumors derived from chromaffine tissue include pheochromocytomas (tumors located in adrenal medulla) and paragangliomas (extraadrenal tumors). These tumors are in 20–25% inherited. Paragangliomas are even rarer and are presented either as familial disease or pheochromocytoma-paraganglioma syndrome (PPS). The mutations in SDH genes (SDHB, SDHD) are suspected for causing the syndrome.
The aim of present study is to look for germline mutations in SDHB and SDHD genes in patients with pheochromocytomas and/or paragangliomas.
DNA was isolated from peripheral blood leukocytes obtained from patients with pheochromocytomas and paragangliomas. The polymerase chain reaction (PCR) was performed for SDHB (exons 2, 3, 4, 6, 7) and SDHD (exons 1, 2, 3). The PCR product was then analyzed with the use of MSSCP (Multiplex Single-Strand Conformation Polymorphism). When the change in the conformation of DNA strand was found, it was then identified by sequencing.
We have so far analyzed DNA from 12 patients with diagnosed paragangliomas; we have also examined 72 patients with pheochromocytomas only in order to seek for pheochromocytoma-paraganglioma syndrome. We have found two types of mutations of SDHD in 6/12 (50%) of paraganglioma cases. 33 TGC-TGA substitution was associated with benign tumors, whereas N 721 G-A occurred in the only patient with malignant paraganglioma.
Conclusions: 1) Mutations in the SDHD gene appear to be frequent in patients with paragangliomas. 2) Among inherited cases of pheochromocytomas no correlations of the type of SDH mutation with malignancy have been found so far.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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