Imperial College London
Alternate

Professor Karim Meeran

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Professor of Endocrinology
 
 
 
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Contact

 

+44 (0)20 8846 1065k.meeran

 
 
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Location

 

9E05Charing Cross HospitalCharing Cross Campus

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Summary

 

Publications

Citation

BibTex format

@article{Maher:2018:10.1530/EDM-18-0078,
author = {Maher, M and Roncaroli, F and Mendoza, N and Meeran, K and Canham, N and Kosicka-Slawinska, M and Bernhard, B and Collier, D and Drummond, J and Skordilis, K and Tufton, N and Gontsarova, A and Martin, N and Korbonits, M and Wernig, F},
doi = {10.1530/EDM-18-0078},
journal = {Endocrinology, Diabetes and Metabolism Case Reports},
title = {A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma},
url = {http://dx.doi.org/10.1530/EDM-18-0078},
volume = {2018},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas occur in a familial setting, either in isolated or syndromic form. Recently, loss-of-function mutations in genes encoding succinate dehydrogenase subunits (SDHx) or MYC-associated factor X (MAX) have been found to predispose to pituitary adenomas in co-existence with paragangliomas or phaeochromocytomas. It is rare, however, for a familial SDHx mutation to manifest as an isolated pituitary adenoma. We present the case of a pituitary lactotroph adenoma in a patient with a heterozygous germline SDHB mutation, in the absence of concomitant neoplasms. Initially, the adenoma showed biochemical response but poor tumour shrinkage in response to cabergoline; therefore, transsphenoidal surgery was performed. Following initial clinical improvement, tumour recurrence was identified 15 months later. Interestingly, re-initiation of cabergoline proved successful and the lesion demonstrated both biochemical response and tumour shrinkage. Our patient's SDHB mutation was identified when we realised that her father had a metastatic paraganglioma, prompting genetic testing. Re-inspection of the histopathological report of the prolactinoma confirmed cells with vacuolated cytoplasm. This histological feature is suggestive of an SDHx mutation and should prompt further screening for mutations by immunohistochemistry and/or genetic testing. Surprisingly, immunohistochemistry of this pituitary adenoma demonstrated normal SDHB expression, despite loss of SDHB expression in the patient's father's paraganglioma. Learning points: Pituitary adenomas may be the presenting and/or sole feature of SDHB mutation-related disease. SDHx mutated pituitary adenomas may display clinically aggressive behaviour and demonstrate variable response to medical treatment.Histological evidence of intracytoplasmic vacuoles in a pituitary adenoma might suggest an SDH-de
AU  - Maher,M
AU  - Roncaroli,F
AU  - Mendoza,N
AU  - Meeran,K
AU  - Canham,N
AU  - Kosicka-Slawinska,M
AU  - Bernhard,B
AU  - Collier,D
AU  - Drummond,J
AU  - Skordilis,K
AU  - Tufton,N
AU  - Gontsarova,A
AU  - Martin,N
AU  - Korbonits,M
AU  - Wernig,F
DO  - 10.1530/EDM-18-0078
PY  - 2018///
SN  - 2052-0573
TI  - A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma
T2  - Endocrinology, Diabetes and Metabolism Case Reports
UR  - http://dx.doi.org/10.1530/EDM-18-0078
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30087776
UR  - http://hdl.handle.net/10044/1/61848
VL  - 2018
ER  -
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