open access

Ahead of print
Clinical vignette
Published online: 2021-05-17
Submitted: 2021-03-23
Accepted: 2021-03-25
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A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD

Anna Kurzyńska, Elwira Maria Przybylik-Mazurek, Anna Skalniak, Monika Buziak-Bereza, Agata Brzozowska-Czarnek, Romana Tomaszewska, Alicja Hubalewska-Dydejczyk
DOI: 10.5603/EP.a2021.0050
·
Pubmed: 34010450

open access

Ahead of print
Clinical Vignette
Published online: 2021-05-17
Submitted: 2021-03-23
Accepted: 2021-03-25

Abstract

Not available

Abstract

Not available
Get Citation

Keywords

paraganglioma; SDHD; variants; alleles

About this article
Title

A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD

Journal

Endokrynologia Polska

Issue

Ahead of print

Article type

Clinical vignette

Published online

2021-05-17

DOI

10.5603/EP.a2021.0050

Pubmed

34010450

Keywords

paraganglioma
SDHD
variants
alleles

Authors

Anna Kurzyńska
Elwira Maria Przybylik-Mazurek
Anna Skalniak
Monika Buziak-Bereza
Agata Brzozowska-Czarnek
Romana Tomaszewska
Alicja Hubalewska-Dydejczyk

References (5)
  1. 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.
  2. 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.
  3. 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.
  4. 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).
  5. 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.

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