2017-04-17
The need for national registries for rare endocrine tumor syndromes
Publication
Publication
High quality research in rare diseases remains challenging
due to the low incidence and prevalence. However, there is
a need for scientific evidence to formulate evidence-based
guidelines in order to provide physicians with tools for
clinical practice. The rare endocrine tumor syndrome
multiple endocrine neoplasia type 1 (MEN1) is a good
example, being a genetic disease with an autosomal dominant
inheritance and an estimated occurrence rate of 2–3 per
100.000.
MEN1 is characterized by the classical triad of primary
hyperparathyroidism, duodenopancreatic neuroendocrine
tumors and pituitary adenomas.
Other encountered neoplasms include adrenal tumors,
neuroendocrine tumors of thymic, bronchial or gastric origin,
skin and subcutaneous tumors, smooth muscle tumors,
and breast cancer.
Insight into predictors of the natural course and prognosis
of the individual MEN1 related manifestation will
lead to timely tumor detection, improved individualized
patient management and targeted treatment. Since randomized
controlled trials are difficult to perform due to the
limited number of patients and the low incidence of events
in individual patients, at this time, cohort studies are the
highest level of scientific evidence. Brandi, et al. have
performed a nationwide cohort study including 14 referral
centers from 12 different Italian cities. The authors underline
that cohort studies based on national databases and
registries are of pivotal importance for clinical and translational
research and knowledge in the field of rare diseases. Efforts to work on a national registry are strenuous, but
also rewarding in the case of rare diseases. The authors have
found similar findings in occurrence of tumors and mortality
as other national cohorts. This is an important finding,
which stretches out that the results from one cohort
seem generalizable to other MEN1 cohorts. This is an
important finding before moving towards supranational
collaborations.
Other European countries with well-known national
MEN1 databases are the Group d’etude des Tumeurs
Endocrine in France and the Dutch MEN1 Study Group
(DMSG) in The Netherlands. These cohorts have respectively
924 and 393 MEN1 patients in their national registries. The DMSG has a database which covers > 90%
of the total Dutch MEN1 population, making it a true
population-based registry and hereby reducing the chance
of selection bias leading to new insights into the natural
course of the disease.
The need for international data-registries is also expressed
by the European Union Committee of Experts on Rare
Diseases. The next steps would be the collaboration
between the national registries which will give access to the
clinical data of almost 2000 MEN1 patients. An international
collaboration would expand the MEN1 population in
which randomized clinical trials seem to become possible.
This need is not only expressed by policymakers and physicians,
but also by the national and European MEN1
patient advocacy groups who support these supranational
collaboration in order to further improve the guidelines and
eventually care for patients with MEN1.
Additional Metadata | |
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Persistent URL | dx.doi.org/10.1007/s12020-017-1296-3, hdl.handle.net/1765/99252 |
Journal | Endocrine : International Journal of Basic and Clinical Endocrinology |
Citation |
van Leeuwaarde, R.S, de Herder, W.W, & Valk, G.D. (2017). The need for national registries for rare endocrine tumor syndromes. Endocrine : International Journal of Basic and Clinical Endocrinology, 1–2. doi:10.1007/s12020-017-1296-3
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