open access

Vol 61, No 1 (2010)
Original papers
Published online: 2010-03-04
Submitted: 2013-02-15
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Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas

Aleksandra Krawczyk, Kornelia Hasse-Lazar, Agnieszka Pawlaczek, Sylwia Szpak-Ulczok, Jolanta Krajewska, Ewa Paliczka-Cieślak, Beata Jurecka-Lubieniecka, Józef Roskosz, Ewa Chmielik, Jacek Ziaja, Lech Cierpka, Mariola Pęczkowska, Aleksander Preibisz, Andrzej Januszewicz, Maciej Otto, Barbara Jarząb
Endokrynologia Polska 2010;61(1):43-48.

open access

Vol 61, No 1 (2010)
Original papers
Published online: 2010-03-04
Submitted: 2013-02-15

Abstract


Introduction: Pheochromocytomas and paragangliomas are derived from neural crest cells and are localized mainly in adrenal medulla and sympathetic or parasympathetic ganglia. They can be inherited (25%) and be part of multi-endocrine syndromes such as MEN2 syndrome, von Hippel-Lindau syndrome, pheochromocytoma/paraganglioma syndrome, neurofibromatosis type 1, and Sturge-Weber syndrome. Clinical presentation can sometimes be atypical and does not always allow proper diagnosis. In such situations, DNA analysis can be helpful, especially when the pheochromocytoma is the first and only symptom.
Material and methods: We analyzed DNA from 60 patients diagnosed and treated in the Centre of Oncology with a diagnosis of pheochromocytoma or paraganglioma. DNA analysis was carried out for RET (exons 10, 11, 13, and 16), SDHB, SDHD, and VHL genes. Techniques used for the analysis were direct sequence analysis, MSSCP, and RFLP.
Results: Germinal mutations were found in 16 patients (26,7%). Most frequent were mutations in RET proto-oncogene, followed by VHL gene, one mutation in SDHB, and one in SDHD genes. A comparison of some of the clinical features of both groups (with and without mutation) showed statistically significant differences.
Conclusions: The results of our study show that genetic predisposition is frequent in chromaffin tissue tumours, which indicates that DNA analysis is necessary in every case, also because of possible atypical clinical presentation.
(Pol J Endocrinol 2010; 61 (1): 43-48)

Abstract


Introduction: Pheochromocytomas and paragangliomas are derived from neural crest cells and are localized mainly in adrenal medulla and sympathetic or parasympathetic ganglia. They can be inherited (25%) and be part of multi-endocrine syndromes such as MEN2 syndrome, von Hippel-Lindau syndrome, pheochromocytoma/paraganglioma syndrome, neurofibromatosis type 1, and Sturge-Weber syndrome. Clinical presentation can sometimes be atypical and does not always allow proper diagnosis. In such situations, DNA analysis can be helpful, especially when the pheochromocytoma is the first and only symptom.
Material and methods: We analyzed DNA from 60 patients diagnosed and treated in the Centre of Oncology with a diagnosis of pheochromocytoma or paraganglioma. DNA analysis was carried out for RET (exons 10, 11, 13, and 16), SDHB, SDHD, and VHL genes. Techniques used for the analysis were direct sequence analysis, MSSCP, and RFLP.
Results: Germinal mutations were found in 16 patients (26,7%). Most frequent were mutations in RET proto-oncogene, followed by VHL gene, one mutation in SDHB, and one in SDHD genes. A comparison of some of the clinical features of both groups (with and without mutation) showed statistically significant differences.
Conclusions: The results of our study show that genetic predisposition is frequent in chromaffin tissue tumours, which indicates that DNA analysis is necessary in every case, also because of possible atypical clinical presentation.
(Pol J Endocrinol 2010; 61 (1): 43-48)
Get Citation

Keywords

pheochromocytoma; paraganglioma; SDHB; SDHD; VHL; RET; DNA analysis

About this article
Title

Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas

Journal

Endokrynologia Polska

Issue

Vol 61, No 1 (2010)

Pages

43-48

Published online

2010-03-04

Bibliographic record

Endokrynologia Polska 2010;61(1):43-48.

Keywords

pheochromocytoma
paraganglioma
SDHB
SDHD
VHL
RET
DNA analysis

Authors

Aleksandra Krawczyk
Kornelia Hasse-Lazar
Agnieszka Pawlaczek
Sylwia Szpak-Ulczok
Jolanta Krajewska
Ewa Paliczka-Cieślak
Beata Jurecka-Lubieniecka
Józef Roskosz
Ewa Chmielik
Jacek Ziaja
Lech Cierpka
Mariola Pęczkowska
Aleksander Preibisz
Andrzej Januszewicz
Maciej Otto
Barbara Jarząb

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