Rare CNS Tumors Outcomes &Risk

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 participant greater than or equal to
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 phone consent.

- Once consent is obtained, the study coordinator will send the subject instructions and a

unique identifier that they will use to access and complete the survey(s).

- Once the survey is completed, subject will be mailed a kit to collect saliva for germline

DNA.

- INCLUSION CRITERIA:

Participants with rare CNS tumors who meet the following criteria will be invited to
participate in the study:

- A diagnosis of rare CNS tumors, (Atypical teratoid rhabdoid tumor (ATRT); Brainstem
and midline gliomas; Choroid plexus tumors; Ependymoma; High grade meningioma;
Gliomatosis cerebri; Medulloblastoma; Oligodendroglioma / Anaplastic
oligodendroglioma; Pineal region tumors; Pleomorphic xanthroastrocytoma / Anaplastic
pleomorphic xanthroastrocytoma; PNET (Supratentorial embryonal tumor); Primary CNS
sarcoma / Secondary CNS sarcoma (Gliosarcoma) or as reported by the participant

- Patients who were more than 18 years of age at the time of initial rare CNS tumor
diagnosis will be included in the Adult rare CNS and Risk Survey cohorts.

- Ability to speak, write, and read English, as questionnaires available in English
language only.

- Ability of subject to understand and the willingness to sign a written informed
consent document.

EXCLUSION CRITERIA:

-Participants who were <18 years at the age at the time of initial rare CNS tumors
diagnosis and are currently greater than or equal to 18 years of age will be included in a
subsequent study that will include pediatric participants and their families.