Medical Oncology

, 31:947 | Cite as

Very rare diseases in oncology

  • Petr SzturzEmail author
Letter to the Editor

To the editor,

Chen et al. [1] 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 [2]. 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...


Rare Disease Acute Leukemia Chordoma Parathyroid Carcinoma Cowden Syndrome 
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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.


  1. 1.
    Chen K, Mo J, Zhou M, et al. Expression of PTEN and mTOR in sacral chordoma and association with poor prognosis. Med Oncol. 2014;31:886.PubMedCrossRefGoogle Scholar
  2. 2.
    The European Parliament and the Council of the European Union. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. OJ L. 2000;2000(L018):1–5.Google Scholar
  3. 3.
    Orphanet Report Series. Diseases listed by decreasing prevalence or number of published cases, November 2013—no 2. (2014).

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Internal Medicine, Hematology and OncologyUniversity Hospital Brno and Masaryk University, School of MedicineBrnoCzech Republic

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