Neurofibromatosis Type 2 name change
22 September 2023
THE NEW NAME FOR NEUROFIBROMATOSIS TYPE 2 IS NF2-RELATED-SCHWANNOMATOSIS (NF2).
The name change reflects the fact that neurofibromas do not occur in NF2 and therefore the name neurofibromatosis is factually incorrect. When previous tumour pathology tests are reviewed these are definitely not neurofibroma although a cross over tumour called a hybrid tumour is sometimes seen in NF2-related and other schwannomatosis. The continued naming of NF2 as a neurofibromatosis only causes confusion with NF1 even amongst the medical profession.
Although the committee did look into changing the gene symbol, the Human Genome Naming Commission felt that the symbol was too long standing in the literature but did agree to changing the gene name to NF2 -Moesin Ezrin Radixin like (MERLIN) tumour suppressor from the previously highly inaccurate 'neurofibromin 2'.
As such, we have now changed all the schwannomatosis conditions to reflect the underlying gene, thus: NF2-related-schwannomatosis, SMARCB1 related schwannomatosis, LZTR1 elated schwannomatosis, 22q related schwannomatosis and schwannomatosis NOS (Not otherwise specified).
We recognise that other tumour types occur and may even be the most important in some individuals such as meningiomas and ependymomas but the committee felt NF2 related schwannomatosis was the best and most pragmatic option.
We at Nerve Tumours UK are in the process of updating our medical publications and resources in print and digital where relevant. This will however not be reflected in our news section and other non medical publications digital and print.
Filter News
Oliver Bromley’s NF Story
Oliver Bromley, with NF1, was asked to leave a restaurant due to his appearance, sparking a call for greater awareness and ed
Read MoreNF Academy 2023 - Ella’s Blog
Ella, who has NF1, attended the week-long 2023 NF Academy in Portugal, meeting young adults with NF from all over Europe
Read MoreUniversity of Manchester Research
Read about the latest PHD research, involving Nerve Tumours UK, at the University of Manchester
Read MoreNew Research Study for Children and Young People with NF1
Find out more about the study and how you can participate here
Read MoreNeurofibromatosis Type 2 name change
The new name for Neurofibromatosis Type 2 is NF2-related-Schwannomatosis (NF2)
Read MoreJensen’s NF1 story
Stuart describes Jensen's first days post birth, subsequent diagnosis of NF1 plus his & wife Claire's hopes for his future
Read MoreTSL’s Charity of the Year
Specialist Nurse Tracey Kenyon launches TSL’s corporate funding to introduce NTUK & welcome guest of honour, 2 year old Evie
Read MoreOnline – Accessibility – We have the tools to help!
The NTUK website has accessibility tools to give you easier access to online & digital content
Read MoreMy life with Pheo
This story, written by someone with NF1, describes symptoms leading to a phaeochromocytoma diagnosis
Read More