What it is: NF1 is part of a group of genetic circumstances called neurofibromatosis, said Associate Professor Joanne Ngeow, Senior Consultant at the Division associated with Medical Oncology, as well as the head of Malignancy Genetics Service in the National Cancer Centre Singapore (NCCS).
As a whole, NF is a highly under-diagnosed condition in Singapore, said Assoc Prof Ngeow. Aside from NF1, the most common form, there are two other types of NF – NF2 and schwannomatosis.
Risk elements: Assoc Prof Ngeow said that about half of all NF cases inherit the condition from their mom and dad, while the other half is because of a spontaneous mutation of the NF1 or even NF2 genes during conception. All individuals who have NF possess a 50 per cent possibility of passing it onto youngsters. It does not skip generations, and can affect both men and women from all ethnicities.
People with NF1 also have an increased danger of cancers, like breast cancer and brain cancer.
Incidence prices in Singapore: NCCS’ Cancer Genetics Service currently manages regarding 30 families with NF1. “We anticipate the incidence price of NF1 people to be 1: 3 thousands in our local people, similar to that of various other populations globally, ” said Assoc Prof Ngeow.
Signs and symptoms: Only a physician can produce a formal diagnosis of NF1, and the patient should meet two or more of the following criteria:
- A family member along with NF1.
- Six or even more cafe-au-lait macules, which are skin pigmentation in the form of multiple flat, light brown spots over the skin.
- Freckling in the armpit or groin.
- Two or more neurofibroma tumours (benign nerve tumours that can grow on or under the skin) or one plexiform neurofibroma (a larger and deeper tumor around the nerves). “10 per cent of plexiform neurofibromas may become cancer, ” Assoc Prof Ngeow said.
- Optic pathway glioma, which is a tumour that will grows along the optic nerve in the human brain.
- Osseous lesion, a bony lesion, such as sphenoid dysplasia, an abnormal growth of the bone behind the eye.
- A faulty NF1 gene discovered by genetic examining.
“The severity of symptoms can range from extremely mild to serious, and can vary within individuals of the same family as well. There is no way to predict who will have a mild case or who will develop much more serious symptoms, but the most of individuals (60 per cent) usually encounter minor symptoms, ” said Assoc Prof Ngeow.
Verification, management and therapy: There is no cure pertaining to NF, she stated, but the symptoms can be managed; and the sooner it’s done, the better the outcome.
“As NF1 can affect various areas of the body… physicians and healthcare specialists from different expertise may be involved in the proper care of NF1 patients, which might include dermatologists, neurologists, ophthalmologists, orthopaedists, oncologists, cardiologists and genetic counsellors, ” mentioned Assoc Prof Ngeow.
She additional that anyone who has functions suggestive of NF should consider further assessment with a genetics services. You can ask your primary doctor for a referral for genetic guidance, to confirm the presence of a genetic condition inside the family, if any. It usually involves an one-time blood test.
Depending on the signs and symptoms and signs associated with NF1, screening plus treatment include yearly physical and attention examinations, the option of operatively removing benign nerve tumours and security for children having a type of skin lesion called xanthogranulomas.