Malignant paraganglioma and somatotropinoma in a patient with germline SDHB mutation-genetic and clinical features.
Endocrine
; 63(1): 182-187, 2019 01.
Article
en En
| MEDLINE
| ID: mdl-30155846
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Paraganglioma
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Succinato Deshidrogenasa
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Adenoma
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Mutación del Sistema de Lectura
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Neoplasias de las Glándulas Endocrinas
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Adenoma Hipofisario Secretor de Hormona del Crecimiento
Tipo de estudio:
Etiology_studies
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Endocrine
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Portugal