RESUMEN
BACKGROUND: Double pituitary adenomas (DA) are two morphologically and immunohystochemically different tumours in the same gland. They are rare, generally small adenomas and divided in: separated, when clearly recognizable before or during surgery, and contiguous, when diagnosed only in the following histopathological examination. Acromegaly and Cushing's disease are the main prevalent clinical presentation. OBJECTIVE: We described two cases of DA in a surgical series over 16 years in a single center. METHODS: In September 2018, we diagnosed a DA in a man with acromegaly (case 1). In order to assess the presence of other cases of DA, we performed a retrospective analysis of the endonasal endoscopically operated sellar adenomas from January 2004 to December 2019. RESULTS: 468 pituitary adenomas were found. A DA with a Pit-1 positive macroadenoma (GH-TSH- PRL positive) and an ACTH microadenoma clinically silent in an acromegalic woman was retrospectively found (case 2). CONCLUSION: Our analysis confirms that DA are rare (0.4% of the pituitary adenomas) and often associated with acromegaly. Their pre-operatively diagnosis is difficult but clinician's awareness of DA can improve the diagnosis. The use of pituitary transcription factors could be useful in detecting DA.
Asunto(s)
Adenoma/diagnóstico , Adenoma Hipofisario Secretor de Hormona del Crecimiento/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Acromegalia/diagnóstico , Acromegalia/etiología , Acromegalia/metabolismo , Acromegalia/cirugía , Adenoma/metabolismo , Adenoma/cirugía , Adulto , Femenino , Adenoma Hipofisario Secretor de Hormona del Crecimiento/patología , Adenoma Hipofisario Secretor de Hormona del Crecimiento/cirugía , Humanos , Italia , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/metabolismo , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía , Procedimientos Neuroquirúrgicos , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipófisis/cirugía , Estudios RetrospectivosRESUMEN
We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized.
