EPIC Working Groups - Cancer Working Groups

The Rare Cancers Working Group

Rare cancers (those with an incidence below 6 out of 100,000 per year) representing a substantial burden of disease. Indeed, around 5.1 million people in the European Union and the United Kingdom are affected by rare cancers and there are more than 650,000 new cases diagnosed every year. Although individually each of the 198 identified rare cancers is considered "rare", collectively they represent about 24% of all cancer cases diagnosed each year (PMID: 22033323), including rare adult solid tumours (13%), rare haematological cancers (8%), and all childhood cancers (1%) (PMID: 28687376). Despite their high collective occurrence, basic biological and clinical knowledge is lacking. Many of the barriers to research directly stem from the low incidence rates. While tens of thousands of patients may be living with a given rare cancer, the geographic dispersion of the patients often limits the number of cases seen at any one institution. In basic research settings, a scarcity of rare tumour tissue and patient-derived models can preclude well-powered studies aimed at elucidating underlying biology (PMID: 26077369). Indeed, patients with rare cancers can suffer discriminations because of their low number. They are understudied, economies of scale cannot be made, there is not enough market for drugs, and benefits in outcomes cannot be demonstrated through conventional studies (https://www.rarecancerseurope.org/). If the situation is challenging for post-diagnostic studies, the pre-diagnostic setting is even worse, with etiologies frequently unknown and pre-diagnostic biomarkers almost inexistent. For many patients with a rare cancer, the lack of effective clinical management pre- and post-diagnosis translates into a suboptimal clinical outcome. Indeed, rare cancer patients on average had worse outcomes, with estimated average 5-year relative survival rates of 47% for patients with rare cancers versus 65% for those with common cancers (PMID: 22033323).

A list of rare cancers has been provided by the EC-funded RARECARE project (http://rarecarenet.istitutotumori.mi.it/rarecarenet/), based on the International Classification of Diseases for Oncology (ICD-O 3rd edition). Following their work, the 198 currently identified rare cancers can be grouped into the following 12 "families" of rare cancers: central nervous system, digestive rare cancers, endocrine organ, female genital, haematological, head & neck, male genital & urogenital, neuroendocrine tumours, paediatric cancers, sarcomas, skin, and thoracic (including malignant mesothelioma) rare cancers. These families of rare cancers are relevant for organization of health care. Under this perspective, rare cancers can be subdivided as those that belong to a family of frequent tumours (i.e. any community of oncologists deals everyday with lung tumours and will be aware of bronchioloalveolar carcinoma rare cancer) and those that belong to a family of tumours which is rare as such (i.e. sarcomas). For the latter centralized patient referral is generally recommended.

Although numbers are always an issue when working with rare cancers, considering that EPIC will be centralizing a new round of cancer endpoint data this year, the numbers for certain rare cancers will likely increase so now might be a good time to work on this.


Getting the maximum benefit from EPIC for advancing the study of rare cancers. Considering the expertise and awareness of the existing challenges when studying rare cancers as well as the particularities and limitations when working within EPIC, this WG main task would be to brainstorm about the type of studies on rare cancers that could be run within EPIC.

Avoiding duplicating efforts. The initial proposal would be that those families of cancers that are rare per se, i.e. centralized patient referral is generally recommended, would be handled under the Rare Cancers WG (sarcomas, neuroendocrine neoplasms). For the others, the WG will work closely with other WG PIs to (i) provide an overview of the ongoing (and short-term future) projects on rare cancers within the given organ of focus of the WG, and (ii) brainstorm and collect points of view and proposals on how to handle future projects on those rare cancers that belong to a family of frequent tumours.

Joining forces with other European efforts. This is particularly interesting and useful in the case of rare cancers for all the above-mentioned challenges. The fact that representants of some of these efforts (EURACAN and ENETs) are part of the WG will facilitate the initial discussion. However, a broader approach would be undertaken including the identification of all potential partners, terms and nature of the collaboration, evaluation of risk and benefits.

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Contact details/Working Group leaders

Lynnette Fernandez-Cuesta, PhD
Genomic Epidemiology Branch (GEM)
International Agency for Research on Cancer (IARC/WHO)
150 cours Albert Thomas, 69008 Lyon, France

Matthieu Foll, PhD
Genomic Epidemiology Branch (GEM)
International Agency for Research on Cancer (IARC/WHO)
150 cours Albert Thomas, 69008 Lyon, France