Table 2 Molecular assessment of 1361 individuals meeting NF2 diagnostic criteria or harboring a pathogenic variant

From: Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Category	Number	% of all NF2	Full constitutional path_variant^x	Presumed mosaic	Mosaic blood	Mosaic two tumors	Two hits one tumor not seen blood	Not found	NF2 pathogenic variant different in two tumors	LZTR1	NF2 excluded	Proportion definitely NF2	Proportion of those with definite diagnosis PPV (%)
De novo/no affected parent
Bilateral VS no FH^a	680	65.7	303	44.6%	122	84	5	33	255	0	0	0	57.6%	100.0%
BVS UVS first^b	69	6.7	18	26.1%	12	4	0	8	38	1	0	1	31.9%	95.7%
UVS & ≥2 schwannomas^b	58	5.6	5	8.5%	17	8	3	6	28	1	7	8	27.6%	66.7%
UVS & 2 other^b	148	14.3	18	12.2%	39	9	2	29	90	1	0	1	19.6%	96.7%
≥2 meningioma & 2 other	32	3.1	13	40.6%	4	1	3	0	15	0	0	0	53.1%	100.0%
Pathogenic variant & 1 tumor	13	1.3	11	84.6%	2	2	0	0	0	0	0	0	100.0%	100.0%
Pathogenic variant & 2 tumors	8	0.8	3	37.5%	5	0	5	0	0	0	0	0	100.0%	100.0%
Schwannomatosis NF2 mosaic	9	0.9	0	0.0%	9	0	9	0	0	0	0	0	100.0%	100.0%
UVS & sibling NF2	3	0.3	0	0.0%	0	0	0	0	0	0	0	3	0.0%	0.0%
UVS & child NF2	2	0.2	0	0.0%	1	1	0	0	1	0	0	0	100.0%	100.0%
≥2 Meningioma child NF2	6	0.6	0	0.0%	0	0	0	0	0	0	0	0	unknown	unknown
Ocular & pathogenic variant	1	0.1	1	100.0%	0	0	0	0	0	0	0	0	100.0%	100.0%
Total	1029	99.4	372	36.2%	211	109	27	76	427	3	7	13	49.4%	98.1%
Subanalysis
BVS only 60+	61	5.9	4	6.6%		0	0	3	53	1	0	1	6.6%	80.0%
Ependymoma, no BVS	31	3.0	15	48.4%	8	6	0	2	8	0	0	0	67.7%	100.0%
≥2 meningioma no BVS	137	13.2	31	22.6%	32	17	4	11	74	0	0	0	38.0%	100.0%
Parent affected
UVS + parent NF2	46	13.6	42	91.3%	0	0	0	0	4^a	0	0	0	95.7%	100.0%
2 meningiomas	3	0.9	3	100.0%	0	0	0	0	0	0	0	0	100.0%	100.0%
2 schwannomas	40	11.8	39	97.5%	0	0	0	0	1+	0	0	0	100.0%	100.0%
Bilateral VS	203	60.1	196	96.6%	0	0	0	0	7	0	0	0	96.6%	100.0%
Asymptomatic gene test^c	40	11.8	40	100.0%	0	0	0	0	0	0	0	0	100.0%	100.0%
Total	332	98.2	320	96.4%	0	0	0	0	12	0	0	0	96.4%	100.0%
Full total	1361		692	50.8%	211	109	27	76	439	3	7	13	60.7%	98.8%

BVS bilateral vestibular schwannoma, FH family history, NF2 neurofibromatosis type 2, PPV positive predictive value, UVS unilateral vestibular schwannoma, VS vestibular schwannoma.
^a7 cases presenting with bilateral VS and learning problems had ring 22.
^b4 cases developed unilateral VS + 2 additional features 22–25 years post–childhood radiotherapy and one a contralateral VS 12 years after radiotherapy aged 17 (Table 4).
^cTests on children of a molecularly proven parent undertaken usually at 10–12 years of age prior to development of symptoms.
^xPath_variant includes class 4 (likely pathogenic) and class 5 (pathogenic) variants as classified by the American College of Medical Genetics and Genomics.

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Table 2 Molecular assessment of 1361 individuals meeting NF2 diagnostic criteria or harboring a pathogenic variant

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