open access

Vol 72, No 4 (2021)
Clinical vignette
Submitted: 2021-03-23
Accepted: 2021-03-25
Early publication date: 2021-05-17
Get Citation

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

Anna Kurzyńska1, Elwira Przybylik-Mazurek1, Anna Skalniak1, Monika Buziak-Bereza1, Agata Brzozowska-Czarnek2, Romana Tomaszewska3, Alicja Hubalewska-Dydejczyk1
DOI: 10.5603/EP.a2021.0050
·
Pubmed: 34010450
·
Endokrynol Pol 2021;72(4):403-403.
Affiliations
  1. Clinical Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland
  2. Department of Radiology, Jagiellonian University Medical College, Krakow, Poland
  3. Department of Clinical and Experimental Pathology, Jagiellonian University Medical College, Krakow, Poland

open access

Vol 72, No 4 (2021)
Clinical Vignette
Submitted: 2021-03-23
Accepted: 2021-03-25
Early publication date: 2021-05-17

Abstract

Not required for Clinical Vignette.

Abstract

Not required for Clinical Vignette.

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

Vol 72, No 4 (2021)

Article type

Clinical vignette

Pages

403-403

Early publication date

2021-05-17

Page views

579

Article views/downloads

222

DOI

10.5603/EP.a2021.0050

Pubmed

34010450

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)
  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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