NF2: NF2-related schwannomatosis; SWN: schwannomatosis; NF2: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; LZTR1: leucine zipper like transcription regulator 1; VUS: variant of unknown significance.
* Mosaic cases of NF2 and SWN are well documented. Typically, testing begins with blood and may require other affected tissues (eg, two independent tumors) to identify a common variant and to distinguish between a germline and a somatic variant. It is important to note that individuals with previously normal genetic testing may be mosaic and one should confirm testing was done using the latest technology and include affected tissue whenever possible.
¶ In cases where tumor/tissue testing is indicated, paraffin-embedded specimens may not be accepted. Consult the testing laboratory for specifics regarding sample requirements.
Δ An uninformative genetic test (ie, negative or VUS) does not exclude the diagnosis of NF2 or SWN, and a referral to an NF2/SWN specialist should be considered.Do you want to add Medilib to your home screen?