Neurofibromatosis-related phaeochromocytoma: two cases with large tumours and elevated plasma methoxytyramine.
We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas.
LEARNING POINTS: Phaeochromocytoma can have varied clinical presentations.Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.
PMID: 26273474 [PubMed]
Source: Diabetes Metab - Category: Endocrinology Authors: Teasdale S, Reda E Tags: Endocrinol Diabetes Metab Case Rep Source Type: research
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