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Endocrine

, Volume 63, Issue 1, pp 182–187 | Cite as

Malignant paraganglioma and somatotropinoma in a patient with germline SDHB mutation—genetic and clinical features

  • Ana SaavedraEmail author
  • Jorge Lima
  • Lígia Castro
  • Roberto Silva
  • Sofia Macedo
  • Elisabete Rodrigues
  • Davide Carvalho
Endocrine Genetics/Epigenetics
  • 119 Downloads

Abstract

Background

Pituitary adenomas and paragangliomas/pheocromocytomas are rare endocrine tumours, which can be sporadic or familial. During many years their coexistence in the same individual was considered a coincidental finding. However, an association between these two entities was recently demonstrated, with the possible involvement of SDHx genes.

Case report

We describe a 57-year-old female patient, who was under surveillance since 1997 for a malignant paraganglioma with vertebral bone metastasis, and harboured a germline frameshift mutation in exon 6 of SDHB gene [c.587–591DelC]. Seventeen years later, she was diagnosed with acromegaly and underwent transesphenoidal endoscopic resection of a somatotropinoma. Three months after surgery she started treatment with lanreotide for residual disease. Despite initial good response, she developed resistance to first generation of somatostatin analogues and treatment had to be switched to pegvisomant. In the immunohistochemical staining, the pituitary adenoma was positive for SDHA expression, while SDHB showed an heterogeneous staining pattern, with areas markedly positive and others with positive and negative cells.

Conclusions

Our findings provide useful data for understanding the link between paragangliomas/pheocromocytomas and somatotropinomas. While we confirm the well-established link between SDHB mutations and paragangliomas/pheocromocytomas, particularly with malignant paragangliomas, the preservation—at least partially—of SDHB expression in the somatotropinoma tissue does not allow drawing definite conclusions about the involvement of the SDHB mutation in pituitary adenoma.

Keywords

Paraganglioma Somatotropinoma SDHB gene Resistance to Somatostatin Analogs 

Notes

Funding

The authors declare that they did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Endocrinology, Diabetes and MetabolismCentro Hospitalar S. JoãoPortoPortugal
  2. 2.Faculty of MedicineUniversity of PortoPortoPortugal
  3. 3.i3S (Instituto de Investigação e Inovação em Saúde)University of PortoPortoPortugal
  4. 4.Ipatimup (Institute of Molecular Pathology and Immunology of the University of Porto)University of PortoPortoPortugal
  5. 5.Department of PathologyCentro Hospitalar S. JoãoPortoPortugal

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