Feocromocitoma-paraganglioma: del diagnóstico bioquímico al genético

Abstract

Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, which can be diagnosed by biochemical measurement of metanephrine and methoxytyramine. Advances in genetic research have identified many genes involved in the pathogenesis of these tumours, suggesting that up to 35-45% may have an underlying germline mutation. These genes have a singular transcriptional signature and can be grouped into 2 clusters (or groups): cluster 1 (VHL and SHDx), involved in angiogenesis and hypoxia pathways; and cluster 2 (MEN2 and NF1), linked to the kinase signalling pathway. In turn, these genes are associated with a characteristic biochemical phenotype (noradrenergic and adrenergic), and clinical features (location, biological behaviour, age of presentation, etc.) in a large number of cases. Early diagnosis of these tumours, accompanied by a correct genetic diagnosis, should eventually become a priority to enable better treatment, early detection of complications, proper screening of family members and related tumours, as well as an improvement in the overall prognosis of these patients.

Feocromocitoma Pheochromocytoma

“…Es posible que estos episodios hipertensivos se comporten de manera paroxística o mantenida. Debido a la desensibilización del reflejo vasomotor o por disminución del volumen intravascular, algunos pacientes pueden presentar hipotensión ortostática (8) .…”

“…Se prefiere la medición de metanefrinas plasmáticas sobre las urinarias para el diagnóstico por su alta sensibilidad, especificidad y facilidad de recolección (4) . Esta regla no aplica cuando el tumor solamente produce Dopamina, o cuando miden menos de 1 cm (8) . La concentración de metanefrinas plasmáticas se relaciona con la localización y tamaño del tumor.…”

“…Algunos autores, como Gupta et al, proponen que la normetanefrina en plasma tiene mayor valor diagnóstico y es más sensible y específico que la medición de metanefrinas plasmáticas (4) . Se puede discernir de un falso positivo cuando se obtienen niveles incrementados de catecolaminas en comparación con los niveles de metanefrinas (8) . Para pacientes con baja sospecha de feocromocitoma, está recomendado utilizar metanefrina fraccionadas en orina de 24 horas como primer test diagnóstico (3) .…”

Carotid body paraganglioma

“…[46] CBPs are of familial and sporadic types with later being more common and showing autosomal dominant inheritance. [7] Majority of CBPs are asymptomatic in the initial phase as it appears as a slow growing and painless lesion unless there is involvement of regional neurovascular compartment. [4] Larger CBPs can cause symptoms such as syncope, dysphagia, odynophagia, hoarseness of voice including Horner's syndrome due to the involvement of carotid vessels and X–XII cranial nerves.…”

“…In cases with positive family history, multiple occurrence, previous history or current history of CBP, bilateralism and age <45 years, biochemical phenotype assay (adrenergic/nonadrenergic) and genetic testing (SDHD, SDHC, SDHB, and VHL) should be performed, so that it can contribute in early detection of complications and intervention, proper screening of family members and related tumors, as well as improvement in the overall prognosis of these patients. [7] Here, we present a case of 36-year-old female patient with CBP in the left side of the neck.…”