Background:
Rare cancers are defined as those with <40,000 cases per year. There are over 130
separate types of primary CNS tumors, all of which meet the definition of a rare cancer.
However, some CNS cancers have incidences of less than 1,000 cases per year. Because of
its relative rarity, limited reports of the presentation and clinical course have been
completed. With the support of the CERN-Foundation, the Adult Ependymoma Outcomes
Projects (AEO) was launched to address this lack of information for one type of rare CNS
tumor- ependymoma. Using an online platform, participants and families from across the
world have participated, providing information that has helped elucidate the presentation
and ongoing health of individuals with this disease. To date, over 300 adults have
participated with over 95% reporting interest in continuing and expanding their
participation. Results from the AEO baseline survey and a follow-up survey (AEOII
addressing socioeconomic impact of the disease) have been published. The most recent data
from the AEO has been presented at the Society for Neuro-Oncology (SNO) annual meetings
in 2015 and 2016.
An additional consequence of the relative rarity of these CNS tumors, studies to evaluate
risk factors for the occurrence of these rare CNS tumors or predicting the clinical
course of these rare CNS tumors are also limited. Rare CNS tumors like other cancers,
occur when there are changes to genes that control the way cells grow and divide often as
a result of exposure to other environmental risk factors. Therefore, exploring genetic
changes in persons with rare CNS tumors will allow us to begin to understand what changes
are associated specifically with these tumors. To date, these participants are often
included as part of larger cohorts which include other types of brain tumors. We now
understand that even among gliomas, the risk factors differ. Therefore, identifying the
risk factors specifically associated with rare CNS tumors is critical for primary
prevention and early detection. This knowledge would allow scientists and physicians to
eventually screen for these changes or target the genes or the processes they control for
treatment purposes.
Objectives:
The primary objectives of this study are to:
- Obtain self-reported data on treatment, symptoms, functional status, and quality of
life for adult participants with rare CNS tumors.
- To evaluate the relationship between health status and disease and treatment
characteristics.
- To evaluate self-reported clinical and demographic risk factors in adult
participants in the rare CNS tumor participant population.
- To explore genomic susceptibility in participants with rare CNS tumors
Eligibility:
The adult rare CNS tumor population for this study are participants >= 18 years of age
who self- identify as being diagnosed with one of 12 rare CNS tumors, including:
- Atypical teratoid rhabdoid tumor (ATRT)
- Brainstem and midline gliomas
- Choroid plexus tumors
- Choroid plexus carcinoma
- Choroid plexus papilloma
- Atypical choroid plexus papilloma
- Ependymoma
- Subependymoma
- Myxopapillary ependymoma
- Papillary ependymoma
- Clear cell ependymoma
- Tanycytic ependymoma
- RELA fusion-positive
- Anaplastic ependymoma
- Posterior Fossa A
- Posterior Fossa B
- High grade meningioma
- Chordoid meningioma
- Clear cell meningioma
- Atypical meningioma
- Papillary meningioma
- Rhabdoid meningioma
- Anaplastic (malignant) meningioma
- Gliomatosis cerebri
- Medulloblastoma
- Sonic Hedge Hog (SHH)
- WNT
- Group 3
- Group 4
- Oligodendroglioma / Anaplastic oligodendroglioma
- Pineal region Tumors
- Pineoblastoma
- Pineocytoma
- Pineal parenchymal tumor of intermediate differentiation
- Papillary tumor of the pineal region
- Pleomorphic xanthroastrocytoma / Anaplastic pleomorphic xanthroastrocytoma
- PNET (Supratentorial embryonal tumor)
- Primary CNS sarcoma / Secondary CNS sarcoma (Gliosarcoma)
Design:
- This study represents an ongoing effort to systematically evaluate outcomes in a
large group of participants with these rare tumors. It will provide descriptive data
which can be used to design further studies evaluating interventions related to
identified health and quality of life related issues for this participant
population.
- Participants will be invited to participate through an ad on the CERN Foundation
website (ependymoma), information on the Neuro-Oncology Branch website and other
identified advocacy and social media sites and direct mailer to those who have
already participated in the EO projects.
- The goal of adding the Rare CNS tumors Risk Survey is to implement a survey to
further evaluate participants in the EO for several known and suspected risk factors
for rare CNS tumors and to obtain germline DNA to interrogate genomic susceptibility
to the disease.
- Interested participants will complete an enrollment form that will be sent to the
study coordinator. Once submitted, the study coordinator will then send the
participant a consent form and schedule a time for remote consent if interested.
- Once consent is obtained, the study coordinator will send the participant
instructions and a unique link that they will use to access and complete the
survey(s).
- Once the surveys are completed, the study coordinator will email the participant a
request for medical records to help us collect more health information related to
the care of their Rare CNS tumor diagnosis.
- Once the survey(s) are completed, the participant will be mailed a kit to collect
saliva for germline DNA.
