Many MEN1 tumour types found in children

Jan 30 2015

By Eleanor McDermid, Senior medwireNews Reporter

Most tumour types reported in adult patients with multiple endocrine neoplasia Type-1 (MEN1) can be found in children with the condition, although rarely before the age of 10 years, shows a large study.

Pierre Goudet (Centre Hospitalier Universitaire de Dijon, France) and co-workers studied 160 patients aged 21 years or younger. Sixty-five percent of the patients were from families known to harbour MEN1 who were following a screening programme, while 12% were from families not compliant with screening and 23% were index cases.

Primary hyperparathyroidism was the most common finding at diagnosis, in 75% of the patients, and was the first manifestation of MEN1 in 56%. It was identified via screening 86% of patients, and was mostly associated with biochemical abnormalities. Just 17% of patients had symptoms, primarily urolithiasis, fatigue and bone pain, but 31% underwent surgery, with 17 patients doing so because they had calcaemia above 2.75 mmol/L.

The next most common finding was pituitary adenoma, which occurred in 34% of the patients, with 55% of these having clinical symptoms and the others diagnosed via imaging or hormonal screening. The most common clinical symptoms were amenorrhoea/galactorrhoea, cephalalgia and visual impairment, in 44%, 13% and 9%, respectively, and 16% of patients underwent surgery. The commonest pituitary tumour was prolactinoma.

Insulinoma occurred in 12% of patients, who were all symptomatic, whereas nonsecreting pancreatic tumours occurred in 9% and were all identified by imaging. Gastrinoma, adrenal tumours and thymic neuro-endocrine tumour (th-NET) each occurred in 1% to 2% of the cohort and were all symptomatic.

“The issue concerning th-NET is not its frequency, which is very low, but its severity”, write the researchers in The Journal of Clinical Endocrinology & Metabolism.

Th-NET was the only cause of death in the cohort, with a 16-year-old boy dying 49 months after diagnosis due to local spread and multiple bone metastases.

“This rapidly-growing type of tumor theoretically requires annual imaging of the chest”, says the team. But they note that cumulative radiation from computed tomography prohibits annual screening.

“Therefore, this question remains unsolved since MRI [magnetic resonance imaging] is not recommended for thoracic evaluation.”

Just six children were diagnosed at the age of 10 years or younger, with the youngest of these being 3 years old. However, four of these children had clinical symptoms and required surgery. In the overall cohort, 66 (41%) patients required surgery, undergoing 74 operations in total.

Four tumours were metastatic: one gastrinoma; two adrenal tumours and one th-NET. Such rare, aggressive tumours “need to be highlighted because they were life-threatening and occurred at any age”, says the team.

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