Very rare diseases in oncology
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To the editor,
Chen et al.  presented an important study on potential molecular prognostic predictors of recurrence in sacral chordoma. I wish to draw the readers’ attention to epidemiological and related socioeconomic and ethical issues of such a rare diagnosis. Various definitions for sporadic diseases have been proposed based on different cutoff incidence or prevalence rates. Some of these definitions delineate a substantial portion of the overall population disease burden. The apparent complexity of the group of rare diseases implies further explorations including the most uncommon entities.
In the European legislation setting, rare diseases are defined as life-threatening or chronic debilitating conditions with prevalence not surpassing 1 per 2000 European Union citizens . They have in common lack of valid scientific knowledge and prospective clinical trials, they are often late or incorrectly diagnosed and patients have limited access to adequate medical care. With about...
KeywordsRare Disease Acute Leukemia Chordoma Parathyroid Carcinoma Cowden Syndrome
This work was supported in part by MUNI/A/0723/2012 and MH CZ—DRO (FNBr, 65269705).
Conflict of interest
The author has declared no conflicts of interest.
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