Abstract
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited condition resulting from pathogenic mutations of the MEN1 gene, resulting in neoplasia of endocrine and neuroendocrine tissues. The presentation of MEN1 is diverse, even within a family without a clear genotype-phenotype correlation. Most MEN1-related tumors are indolent but aggressive cancers can occur. The wide range of presentation raises surveillance and management challenges. Globally, the prevalence of MEN1 is approximately 2 per 100,000. New Zealand (NZ) has just over 5 million people with most healthcare provided through a national public healthcare system, but this is divided by region. No data is available on MEN1 prevalence in NZ, surveillance practices or management of MEN1-related neoplasia. The Familial Endocrine Disorders Registry NZ (FERNZ) was established with the aim to provide national data on patients with conditions such as MEN1.
Aims: To assess the prevalence of MEN1 in NZ and to collect information on presentation, surveillance, and management of MEN1-related conditions.
Methods: Potential participants were identified by their primary endocrinologist and invited to participate. Data collected included basic demographics and MEN1-related conditions.
Results: Fifty patients were identified from 8 different regions of NZ. 42 patients, from 13 kindreds consented to be included in the registry. Genetic analysis in 31 patients identified 13 different gene variants. A total of 22 females, 19 males, and 1 nonbinary were included with a median age of 46 (age range 12-89 years). Māori comprised 26% of the cohort compared to 17% of the population. Hyperparathyroidism was diagnosed in 38, with parathyroidectomy in 24, 50% requiring more than 1 operation. Nearly half of those patients experienced nephrolithiasis. Pituitary adenomas were present in 11 patients, of which 9 were prolactinomas. Pancreatic neuroendocrine tumors (PNETs) were present in 23 patients: 14 with non-functioning PNETs, 8 with gastrinomas and one, an insulinoma. Additional MEN 1-related lesions included adrenocortical carcinoma and lung carcinoid tumors. All most all patients (>95%) had regular specialist surveillance, follow-up schedules and imaging varied based on individual presentations.
Conclusions: The number of FERNZ participants with MEN 1 aligns with international estimates, but further efforts are needed to improve recruitment to the registry. A comprehensive registry will ensure more robust data, enabling a deeper understanding of the disease's clinical variability across different regions and ethnicities, to facilitate equitable, high-quality management for MEN 1 patients in NZ, supporting both clinical care and future research initiatives into genetic factors and disease outcomes.
Oral Presentation.