Services

Listed on this page are several researchers interested in obtaining tumor tissue from NF
patients for laboratory studies. For these studies the surgery must be being performed for your
medical care and there may be excess tissue available that can be donated for research
studies. Please contact the researchers directly if you are interested. It is very important to
arrange for this type of study well in advance of the surgery and to be aware that not all
hospitals are able to comply with your request to send tissue for research.

NF1 Neurofibroma and Malignant Tumor Tissue Needed
Dr. Peggy Wallace and Dr. David Muir at the University of Florida have federal funding to
continue their research of NF1 tumors. They are studying benign tumors (plexiform
neurofibromas) and malignant tumors (often called neurofibrosarcoma, or MPNST). The goal
of this work is to understand the changes that cause growth of these tumors, to help develop
better treatments. If you or a family member or friend is arranging surgery to remove any
tumors for clinical reasons (preferably at least the size of an average marble), and would like
to contribute extra surgical tissue to this research, please contact Dr. Wallace. She will
discuss the research with you and help make arrangements to recover any extra tumor
material (not needed by your physicians), if you wish to participate. It helps to make
arrangements ahead of the surgery you schedule, as we need the tissue treated in a special
way. A small amount of blood (1-3 teaspoons) will also be needed, which can be obtained at
the same time or another date. Dr. Wallace and Dr. Muir thank you very much for your help!

Neurofibromas Needed
Dr. Nancy Ratner at Cincinnati Children’s Hospital Medical Center requires neurofibromas
from NF1 patients for an ongoing study of tumor growth factors, growth factor receptors, and
signaling pathways in neurofibroma cells. To be enrolled in this study, tumors must be
removed for medical reasons . If you are interested in your tumor tissue being used for this
study, AFTER you are scheduled for surgery, please have your physician or his/her nurse
contact Dr. Ratner at least 24 hours prior to removal of tumors for instructions. Please do not
contact Dr. Ratner directly; the contact must come from the doctor so that tumor is handled
correctly. The study requires sterile tumor tissue covered by and shipped in tissue culture
medium, on wet ice. Plexiform or cutaneous neurofibromas can be used. Some patient
information (age, sex, criteria used to make the diagnosis of NF1) is required. Dr. Ratner will
pay shipping costs but cannot pay the cost of surgery .

                                       We Need Your Tumor!
1. If you have NF and you are going to have surgery and you would like to contribute to
the research effort, please let someone know. The majority of that tumor that you don’t
want anymore will be incinerated unless a research lab knows it’s available. If your own
medical center is not actively researching NF, please call my laboratory and we will
either bank the material, use it in our own work, or donate to other collaborating labs.
Please contact:
                                             Mia MacCollin, M.D.
                                  Massachusetts General Hospital
                                          Phone: 617-726-5725
                                              Fax: 617-726-5736
                                 maccollin@helix.mgh.harvard.edu
When you call, please have available your surgeon’s name and phone number, and the
date of surgery.

2. As part of our work on the molecular genetic basis of multiple meningiomas, we are
actively recruiting patients interested in participating in research. Patients must have
had cranial MRI scan which excludes vestibular schwannoma and/or an affected
relative. Study will involve record review, blood samples, and retrieval of tumor material.
For more information please contact Mia MacCollin, M.D (see above). This work is
approved by the Institutional Review Board of MGH. The NF community thanks you!

Phase II Study of Vinblastine & Methotrexate for NF1 Progressive Plexiform Tumors
This 3-year study is to determine the effect of chronic vinblastine and methotrexate on
time to disease progression in children or young adults up to 25 years of age with
NF-1who have progressive plexiform neurofibroma (PN). Criteria for participation in
the study includes diagnosis of progressive, debilitating, severely disfiguring, or
life-threatening plexiform neurofibroma that is surgically unresectable (or surgery
refused by patient) and for which there is no other standard medical management.
Tumor must be biopsied if any clinical observation or scan suggests possible
malignant transformation.

NF2 Natural History Consortium Study
The purpose of the study is to follow the natural history of all tumors related to NF2.
Information from yearly MRI scans of the brain and spine, hearing tests, eye exams,
neurological check-ups and physical functioning questionnaires will be collected for
3 years. To participate in the study, the NF2 diagnosis has to have been made on or
after January 1, 1993. You must have at least one untreated acoustic neuroma,
meningioma or spinal schwannoma which will remain untreated for the next 12
months.

Mitochondrial Polymorphism and Number of Neurofibromas in NF1
We are conducting a research study that is designed to explore the reason why some
individuals with NF-1 develop a large number of neurofibromas whereas others may
develop a smaller number. We believe that there may be genes aside from the NF
gene itself that help to determine the overall number of neurofibromas a person with
NF will develop. In order to test this idea, we are recruiting individuals with NF to
participate in our study. Specifically, we are looking for individuals who fit in any of the
following categories:

Age Number of Neurofibromas

18-20 years old – fewer than 5 or more than 30
20-30 years old – fewer than 10 or more than 100
30-40 years old – fewer than 20 or more than 200
older than 40 years – fewer than 50 or more than 500

Participation in the study will have a physical examination and donate 20 ml (about 4
teaspoons) of blood. If you fit into any of the above categories and are interested in
participating, or have any questions, please contact the investigator in charge of this
study.

Attention Families Of Children With NF-1 (ages 6 to 14)
We are currently looking for children (ages 6 to 14) with Neurofibromatosis Type 1 to
participate in a research study to learn more about what causes difficulty with
reading. We are also interested in having unaffected siblings of children with
Neurofibromatosis Type 1 participate in the study, although sibling’s participation is
not a requirement to be in the study.

WHAT: 2 days of paper & pencil tasks and some children will receive Magnetic
Resonance Imaging (MRI) scans of the brain
WHERE: Kennedy Krieger Institute - 707 North Broadway, Baltimore, MD
BENEFITS: Each child receives $25 for study participation and $10 for lunch
Free IQ and school testing with summary
Some children will receive a free MRI

NF-1 Cognitive and Behavioral Evaluation Study
The purpose of the study conducted by the Yale Child Study Center is to determine
how strengths and weaknesses in cognitive-behavioral development change as those
with NF-1 get older.
Requirements:
Ages 4 years to 15 years. Clinical diagnosis and/or DNA diagnosis of NF-1.

Evaluation includes:
*Stanford-Binet (4th edition) assessment of intellectual ability, Vineland Adaptive
Behavior Scale (parent interview of behavior), Clinical Evaluation of Language
(possible).

Additional Information:
There is NO charge for the evaluation. Testing takes about 1 1/2 hours. No laboratory
tests will be performed as part of the study. Reports for parents/teachers/caregivers
take about 2 months and are sent to parents. Once enrolled, children and adolescents
will be tested every 2 years.

Seeking Doctors with NF1 Cases With Large Gene Deletions
Researchers at the University of Milan are interested in NF1 patients with a complex phenotype, who are thought
to bear large deletions involving NF1 gene. Their aim is to define by FISH analysis on chromosome spreads the
sequences involved in the deletions. In particular, they are studying NF1 patients with dysmorphisms, mental
retardation of any degree and other associated anomalies involving different systems. If you have any cases of
this nature, please contact:

Call For Schwannomatosis Samples
Array-CGH (comparative genomic hybridization) is suitable for comprehensive and high-resolution profiling of
DNA-copy-number. It allows simultaneous detection of heterozygous/homozygous deletions and/or amplifications
occurring in constitutional or tumor DNA (Bruder et al., Hum Molec Genet, 2001. 10:271-282). A high-resolution array
fully covering the entire 22q has recently been constructed and successfully applied in the analysis of tumor-derived
and constitutional DNA.

The aim of this project is to characterize the frequency and location of deletions, which occur outside the NF2 locus
on chromosome 22. This research task aims to characterize additional 22q-located gene(s), which may contribute to
the development of schwannomatosis and the severe phenotype of neurofibromatosis type 2.

We would like to obtain blood-derived DNA or a blood sample from patients affected with schwannomatosis; i.e.
patients with two or more pathologically verified schwannomas, plus lack of radiographic evidence of vestibular
nerve tumor at age >18 years. These can be familial or sporadic cases. We need >25 microgram of
high-molecular-weight DNA from peripheral blood. Alternatively, we would like to obtain 30 ml of peripheral blood (in
EDTA tubes) transported to us via overnight courier service. Basic clinical details of the studied patients are also
necessary.

Our project receives support from the U.S. Army Neurofibromatosis Research Program, the Swedish Cancer Society,
the Uppsala University and the Swedish Research Council. The use of material derived from human subjects has
been approved by the Uppsala University Research Ethics Committee (Institutional Review Board).

Discover the many ways you can be involved in NF research!

Natural History Study of Plexiform Neurofibromas in NF1
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The goals of this study is to closely monitor the growth of plexiform neurofibromas for a period of at
least three years using magnetic resonance imaging (MRI). We will be analyzing the MRI data in a
special way that allows us to precisely measure the volume of the neurofibroma. By repeating the
assessment every 6-24 months, we hope to document the rate of change in size of the plexiform
neurofibroma, and to demonstrate that volume analysis of MRI data provides a reliable means of
measuring neurofibroma growth. Finally, the study will bring together clinical and research
resources that can later be used to test potential treatments of neurofibromas.
This is an international study funded by the U.S. Department of Defense NF Research Program.
Eighteen medical centers worldwide are recruiting patients for this study including Texas Children’
s Hospital in Houston. For more information about the study and how to get involved contact: