MEN1 at work

Multiple Endocrine Neoplasia Type 1 (MEN1) syndrome is a good example that the search (and subsequent identification) of molecular disease mechanisms may have immediate impact on clinical patient care. Since 1997, MEN1 gene analysis has become a core diagnostic tool for patients and families stricken by this classical, though rare, hereditary endocrine tumor syndrome.

To account for the rapid changes in the field, the German MEN1 Study Group set out to re-define guidelines for screening and diagnostic follow-up in MEN1. As a result, a working group was instituted in 1999, whose consensus statement appears in this issue of ECED. The conceptual framework presented by Karges et al. is, however, not intended as an official guideline: it much rather represents current opinion and practice (as defined by extensive internal peer review) in the majority of clinical centers involved in MEN1, thus reflecting the informal character of the German MEN1 Study Group. To enhance academic discussion, the Editorial Board of ECED encourages readers to submit their comments to this journal.

Given the novelty of MEN1 gene analysis, long term studies are required to assess the utility and benefit of revised screening and follow-up strategies in MEN1. In particular, effects on overall morbidity and mortality, psychological disease burden, and cost-efficiency in long-term patient care need to be addressed. Because MEN1 is a rare disease, multi-center participation coordinated by a central MEN1 registry would provide sufficient strength for such efforts. Starting from this platform, future clinical trials (e.g. medical vs. surgical management of MEN1-associated pancreatic tumors) or tumor biological studies (e.g. analysis of somatic genetic events) may avoid limitations due to restricted patient or sample numbers.

Clearly, in the evolving field of MEN1 research and clinical care, more work remains to be done. But who needs MEN1 at rest, anyway?

Editor-in-Chief Endocrinology Marburg, Germany