Necessity for long-term follow-up of patients with head and neck paraganglioma and mutation in the succinate dehydrogenase genes: an index case report and literature review.
Endocr Pract
; 18(5): e130-4, 2012.
Article
en En
| MEDLINE
| ID: mdl-22982783
ABSTRACT
OBJECTIVE:
To describe a patient with hereditary head and neck paraganglioma (HNPGL) and to review the literature on these rare tumors.METHODS:
We review the English-language literature regarding SDH mutations, HNPGL, hereditary paraganglioma-pheochromocytoma syndrome, and the role of functional imaging in the follow-up of these tumors. We also describe the clinical findings, imaging results, and follow-up of a man who initially presented with HNPGL and subsequently developed metastatic pheochromocytoma 20 years later.RESULTS:
A 66-year-old man presented with a history of hypertension, palpitations, sweating, and elevated urinary norepinephrine. Iodine-123-metaiodobenzylguanidine (123I-MIBG) scan demonstrated a left suprarenal mass and multiple avid lesions in the abdomen, chest, and posterior cranial fossa. Histologic examination confirmed a metastatic pheochromocytoma, and molecular genetic testing revealed a mutation in the SDHD gene. The patient had had surgery 20 years earlier for HNPGL. Although most HNPGLs arise sporadically, susceptibility genes have been identified in approximately one-third of cases. Optimal follow-up remains controversial. We reiterate a need for long-term follow-up of patients with a mutation in an SDH gene. 123I-MIBG, highly specific for identifying ectopic neuroendocrine tissue, may have a role in long-term follow-up.CONCLUSIONS:
Although HNPGLs rarely metastasize, their malignant potential is difficult to predict. Routine surveillance for at-risk patients is recommended. Patients with a mutation in an SDH gene should therefore undergo regular surveillance.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Paraganglioma
/
Succinato Deshidrogenasa
/
Neoplasias de Cabeza y Cuello
Tipo de estudio:
Prognostic_studies
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Endocr Pract
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Reino Unido