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A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD
Affiliations- Clinical Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland
- Department of Radiology, Jagiellonian University Medical College, Krakow, Poland
- Department of Clinical and Experimental Pathology, Jagiellonian University Medical College, Krakow, Poland
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Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
paraganglioma; SDHD; variants; alleles
About this articleTitle
A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD
Journal
Issue
Article type
Clinical vignette
Pages
403-403
Published online
2021-05-17
Page views
769
Article views/downloads
343
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2021;72(4):403-403.
Keywords
paraganglioma
SDHD
variants
alleles
Authors
Anna Kurzyńska
Elwira Przybylik-Mazurek
Anna Skalniak
Monika Buziak-Bereza
Agata Brzozowska-Czarnek
Romana Tomaszewska
Alicja Hubalewska-Dydejczyk
References (5)- Buffet A, Burnichon N, Favier J, et al. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. 2020; 34(2): 101416.
- Hensen EF, Jordanova ES, van Minderhout IJ, et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene. 2004; 23(23): 4076–4083.
- Tufton N, Sahdev A, Drake WM, et al. Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers? Clin Endocrinol (Oxf). 2019; 90(1): 31–46.
- Koopman K, Gaal J, de Krijger RR. Pheochromocytomas and Paragangliomas: New Developments with Regard to Classification, Genetics, and Cell of Origin. Cancers (Basel). 2019; 11(8).
- Lee H, Jeong S, Yu Y, et al. Risk of metastatic pheochromocytoma and paraganglioma in mutation carriers: a systematic review and updated meta-analysis. J Med Genet. 2020; 57(4): 217–225.
