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Diagnosis of NF2

Last Updated: 08/17/17

Topics Here:

  1. Criteria of NF2 Diagnosis
    1. Baser Criteria (2016 - Now)
    2. Manchester Criteria (1997 - 2015)
    3. Spontaneous NF2
  2. Diagnosis Methods
  3. Diagnosis Issues
  4. Additional Diagnosis Considerations
  5. Information for Recently Diagnosed
  6. Sources

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The sooner diagnosis of Neurofibromatosis Type 2 (NF2) is made, the easier it can be to manage NF2 specific health issues.

1. Criteria of NF2 Diagnosis[Evans, Baser (2016)]

There have been different standards for diagnosis of NF2 since it was acknowledged as a condition different from NF1, again when Schwannomatosis was classified as a separate condition, and recently in 2016 as a result of a study in the UK.

As of 2016, the criteria for the diagnosis of NF2 is the Baser Criteria which is a revision of the Manchester Criteria. Michael E Baser, M.D. works with the team in Manchester UK, who have had a significant part in understandings of genetics and layout of criteria for the help of the diagnosis of the Neurofibromatosis conditions.

Baser Criteria (2016 - Now)

There are variations on what issues NF2 may result in and determination of diagnosis and the Baser Criteria says an individual has NF2 if one of the following applies:

Primary Finding Added Features needed for Diagnosis
Bilateral Vestibular Schwannoma
First-degree relative with NF2

Unilateral Vestibular Schwannoma, or
Any two (2) other NF2-Associated lesions:
Meningioma, Schwannoma, Glioma, or Cataracts
Unilateral Vestibular Schwannoma

Any two (2) other NF2-Associated lesions:
Meningioma, Schwannoma, Glioma, Neurofibroma, or Cataract
Multiple Meningiomas

Unilateral Vestibular Schwannoma, or
Any two (2) other NF2-Associated lesions:
Schwannoma, Glioma, Neurofibroma, or Cataracts

Manchester Criteria (1997 - 20155)

The 1997 Manchester Criteria required one of the following three conditions to apply but is no longer the accurate method of diagnosis:

  • Bilateral Vestibular Schwannoma (VS)
  • 1 or more 1st degree relative with NF2 + unilateral Vestibular Schwannoma at <30 years
  • 2 of the following: Meningioma, Glioma, Schwannoma, Juvenile Posterior Lenticular Opacities

Spontaneous NF2

DeNuvo - Spontaneous NF2

If an individual is the first in their family to have NF2, with Spontaneous NF2, which applies to 50% of the NF2 population, may not show all signs of the NF2 Manchester Criteria. These individuals may only develop Single Sided Vestibular Schwannoma, and a possible combination of other tumor masses found in an MRI. In the case of Spontaneous NF2, the VS and other tumor masses may not show up until possibly over the age of 50 and would require more than a brain MRI to rule out. This is an important thing for individuals with Single Sided VS to know since:

  • Tumor Growth Rate: Dangerous brain or spine tumors may start to develop at an unexpected rate and require additional treatments
  • Treatment Options: Treatments like Radiation Therapy of Gamma Knife, or Radiotherapy of CyberKnife do not work as effectively on people with NF2 as it does with people who developed VS for other reasons
  • Children: Since NF2 is genetic, their children are at risk for a full, more serious case of tumor growth and need to be seen by a doctor for diagnosis and follow up as early as possible

2. Diagnosis Methods

Diagnosis can be determined definitively through the following methods:

  1. Neurologist Examination - This is the most common way NF2 is diagnosed. A Neurologist would likely do both of the following:
    • MRIs are done with and without Gadolinium, consisting of scans of the brain and spinal cord.
    • Genetic Testing - A genetic test can be used to determine if one has NF2, which might be ordered if either parent has NF2. D During pregnancy, depending on when NF2 started, a genetic test may not be accurate. New mutations of NF2 can result in false or negative test results.

  2. Neuro-Ophthalmologist - A Neuro-Ophthalmologist is a Neurologist, with a specialty in vision. If they notice any of the following, an MRI would typically be done for NF2 diagnosis confirmation;
    • Optic Tumor Pressure: An eye exam indicates tumor pressure on the eyes
    • Juvenile Cataracts or Nystagmus: If either Juvenile Cataracts or Nystagmus is seen. Both are a common at birth or shortly after for individuals with NF2.

  3. Dermatologist Examination: Individuals with NF2 can develop Skin Irregularities of; 1) Café-au-lait Spots also known as Café-au-lait Macules (CALMs), as well as 2) Skin Surface Tumors of Schwannoma. Genetic testing of skin tumors can determine what mutation of NF2 an individual might have.
    Some papers have suggested individuals with NF2 can develop skin surface Neurofibroma.

  4. Otologic Examination - An Ontological (Ear Doctor) or an ENT Doctor (Ear Nose Throat), aka Otolaryngology, would have you take either or both:
    • Audiometry Hearing Test - Speech Recognition/Discrimination Tests
    • ABR - Auditory Brain Stem Response
    • MRI - Magnetic Resonance Imaging of with and without Gadolinium of the brain and spinal cord.

  5. Geneticist - To determine if a child who is known to have developed any signs of NF2, but to determine if; 1) the child is germ line NF2, and 2) to determine which form exactly a child may have and how extensive their NF2 issues could be, the best method is for both parents to be tested.
    When genetic testing is done with a blood test, there is 2/3 risk of a negative find of NF2 being wrong. It can simply mean not found. This often happens if:
    • a person has Mosaic NF2, first generation NF2 with only part of the body having NF2.
    • NF2 can be the result of 200 different combinations of damage that involve the NF2 gene.
    Sometimes the only way to know for certain is from tumor biopsy, which can make it complicated to determine if a person with spontaneous NF2 is or is not in fact germ line.

3. Additional Diagnosis Considerations

If a parent of a child is Mosaic, or may have NF2 and is looking for consideration if a child may or may not have NF2, there are things that can indicate an individual might have NF2 that are outside of the criteria, which would not mean they have NF2, but can be a good justification of additional testing to confirm if the child does or does not have NF2.

White Blood Cells

The blood in the body contains many different components, including white blood cells. White blood cells are the component of the immune system. The amount of white blood cells increases when an individual's body is fighting something, typically this is from germs for infections. However, if an individual is fighting tumor development, the white blood cell levels are typically higher than they should be.

Again, this could mean simply an infection or cold of some sort, but if a child may have NF2 and the white blood cells are high, follow up on NF2 criteria would be wise.

Café-au-lait Spots

It is possible for a person with NF2 to develop Café-au-lait Spots, however it is never something to use as a method for determination of diagnosis of NF2 as, possibly less than half the NF2 population develops them and when these do develop, it may be up to and never more than six.

Skin Tumors

Not all individuals with NF2 develop skin surface tumors; these are more of a NF1 issue. When they do develop the Cutaneous (Dermal) , and Subcutaneous, in tumor biopsy it would be found that tumors would be Schwannoma, unlikely to be Neurofibroma. In a Dermatological determination to determine of an individual who is already in consideration as having NF2 for other diagnosis reasons, a tumor biopsy could aid in determination for or against the diagnosis.

It is not uncommon to have NF2 and develop skin surface tumors at all, but an individual may develop several over their lifetime. It is rare but also possible for an individual with NF2 to develop many of these, but never as extensive as skin tumor development for people with NF1.

Some research papers imply a person with NF2 can develop Neurofibroma skin tumors.

CT Scans

Many with NF2 are not diagnosed with NF2 till immediate surgery is needed when headaches and other issues are not followed up on by doctors who do not consider tumors as a possible issue, or health issues might only be from review of a CT scan. CT scans have their advantages, but in the center of the brain in soft matter often miss imaging of small tumors or things further away from the skull.

Tumors from MRIs

Tumor masses are often listed on MRI reports as simply a Lesion, since it is not possible to determine a tumor type with an MRI alone, making it important for additional diagnosis methods to be done to determine the cause of the Lesions found in an MRI. This is less likely when strong clear MRI's with close gaps between each scan. If an individual may have NF2 and found early the tumors may be too small to otherwise be found.

4. Information for Recently Diagnosed Individuals

People diagnosed with NF2 need to know what doctor types to see and what they do, in addition to having material on hand to share with regular doctors treating them locally.

5. Sources

  1. Ardern-Holmes, Simone, Gemma Fisher, and Kathryn North. "Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group." Journal of Child Neurology. 32.1 (2017): 9-22.
    Source: http://journals.sagepub.com/doi/abs/10.1177/0883073816666736 | DOI: 10.1177/0883073816666736
  2. Baser, M. E., Friedman, J. M., Joe, H., Shenton, A., Wallace, A. J., Ramsden, R. T., & Evans, D. G. R. "Empirical development of improved diagnostic criteria for neurofibromatosis 2." Genetics in Medicine, 13(6), 576-581. (2011)
    Source: http://www.nature.com/gim/journal/v13/n6/abs/gim9201192a.html | DOI: 10.1097/GIM.0b013e318211faa9
  3. NF1 and NF2: Hoa, M., & Slattery III, W. H. "Neurofibromatosis 2." Otolaryngologic Clinics of North America, 45(2), 315. (2012)
    Source: http://books.google.com/books?hl=en&lr=&id=kwdw7RQHeKcC&oi=fnd&pg=PA315&dq=nf2,+NIH,+Natural+History+Study&ots=1JzDOLvv__&sig=9mPRcLKT7aqMbU14304wCtlmaf8 | DOI: 10.1016/j.otc.2011.12.005
  4. N., Miller, J. "NF2 Storyboard." CDMRP. National Institute of Health. (2010).
    Source: http://cdmrp.army