Plans are in place for the 2nd annual Alabama NF Walk in Birmingham to raise funds for the Children’s Tumor Foundation (CTF), the major source of patient advocacy and research support for all forms of NF in both adults and children. This year’s event will be held on Sunday, October 18th, at 1 p.m. in Veterans Park located in Hoover. For more information or to register, visit the following page on the CTF web site: www.nfwalk.org/alabama. Last year’s inaugural NF Walk was a landmark event for our city and a huge success, raising more than $50,000 for CTF. Birmingham resident Renie Moss, a dedicated patient advocate and mother of two children with NF, spearheaded our local NF Walk last year in conjunction with CTF. Working with other Birmingham families who have been affected by NF, the Moss family continues to play an integral role in organizing and publicizing this important event that supports critical NF research focused on the development of breakthrough treatments.
Next, I’d like to discuss the role of genetic testing in diagnosing NF and explain when it can be useful. The UAB Medical Genomics Laboratory, directed by Ludwine Messiaen, Ph.D., offers clinical genetic testing for all forms of neurofibromatosis and Legius syndrome, as well as a group of related disorders collectively referred to as the “rasopathies.” In 2003, Dr. Messiaen launched the first routine, reliable, and affordable clinical genetic test for NF1 that has the capability to detect more than 95% of the mutations in persons who fulfill diagnostic criteria. Prior to the development of this test, it was difficult to perform testing for NF1 because of the vast number and diversity of the mutations involved, of which there are thousands. Because of her pioneering efforts, the UAB Medical Genomics Laboratory run by Dr. Messiaen is viewed in the medical and scientific communities as the gold standard for NF genetic testing. The laboratory offers the most scientifically reliable, leading-edge genetic testing currently available for the diagnosis and characterization of mutations in NF1, NF2, and schwannomatosis and performs the highest volume of neurofibromatosis genetic testing in the world. The laboratory has performed more than 7,000 NF1 tests and has identified more than 3,000 different NF1 mutations. Dr. Messiaen and her colleagues were also able to discover a new gene, designated LZTR1, responsible for some cases of schwannomatosis.
Several factors are involved in determining when genetic testing can be useful to patients with neurofibromatosis. In most cases, a diagnosis of NF1 is made clinically, based on the presence of two or more of the seven NIH criteria for the disorder. In some cases, however, a clinical diagnosis of NF1 may be inconclusive or needs to be confirmed, and here genetic testing can be very helpful. For example, if a child has café-au-lait spots and no other clinical features, genetic testing can be used to confirm an NF diagnosis and also to rule out Legius syndrome (which can cause the appearance of café-au-lait spots but not the tumors that are characteristic of NF1).
In addition, there are some cases in which particular mutations predict certain features of NF; for example, a whole gene deletion predicts a more severe course of the disorder and there are a few other mutations that predict a mild course. People who have an unusual presentation, including either isolated or severe features, can also benefit from genetic testing to determine if an NF1 mutation is involved. Finally, identification of an NF1 mutation can make it possible to offer prenatal testing to determine if the mutation has been passed on to a fetus who is at risk based on the mother or father being affected.
One additional interesting point on genetic testing for NF has recently emerged. There is evidence that individuals with NF1 are at increased risk of breast cancer – not to the extent of those with mutations in genes such as BRCA1 or BRCA2, but still at a greater risk than the general population. For this reason, many companies offering genetic testing to persons diagnosed with breast cancer are including a test for NF1 on their genetic testing panel, and a few examples of people with unexpected NF1 mutations have been found. Some of these are likely to be people who actually have neurofibromatosis but had never realized they were affected. Others may have few signs or symptoms, making the finding a real surprise. It remains to be seen how this is explained, and it represents a new area of research in neurofibromatosis genetic testing.
Director's Blog
Upcoming 2nd Annual Alabama NF Walk and Understanding the Role of NF Genetic Testing
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- Written by: Bruce Korf
