IllnessMeningeom, multiples, familiäres; Suszeptibilität

Summary

Short information

A curated panel containing 17 genes for the comprehensive analysis of the genetic susceptibility for multiple familial meningiomas

MP1298

Number of genes

13 Accredited laboratory test

Examined sequence length

6,9 kb (Core-/Core-canditate-Genes)
33,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
NF2	1788	607379	NM_000268.4	AD
PTEN	1212	601728	NM_000314.8	AD
SMARCB1	1158	601607	NM_003073.5	AD
SMARCE1	1236	603111	NM_003079.5	AD
SUFU	1455	607035	NM_016169.4	AD
APC	8532	611731	NM_000038.6	AD
MLH1	2271	120436	NM_000249.4	AR
MN1	3963	156100	NM_002430.3	AD
MSH2	2805	609309	NM_000251.3	AR
MSH6	4083	600678	NM_000179.3	AR
PDGFB	726	190040	NM_002608.4	AD
PMS2	2589	600259	NM_000535.7	AD
TP53	1182	191170	NM_000546.6	AD

Informations about the disease

Clinical Comment

Meningeome sind die häufigsten primären Hirntumore. Während die meisten dieser Tumoren sporadisch auftreten, gibt es eine Reihe von familiären Syndromen, die durch ein erhöhtes Meningeomrisiko gekennzeichnet sind. Das am besten definierte dieser Syndrome ist die Neurofibromatose Typ 2, die durch eine Mutation im NF2-Gen verursacht wird und eine Meningeominzidenz von etwa 50 % aufweist. Andere wichtige familiäre Erkrankungen mit erhöhtem Meningeomrisiko sind das nävoide Basalzellkarzinom-Syndrom, die multiple endokrine Neoplasie 1 (MEN1), das Cowden-Syndrom, das Werner-Syndrom, das BAP1-Tumorprädispositionssyndrom, das Rubinstein-Taybi-Syndrom und die familiäre Meningeomatose, die durch pathogene Varianten in den Genen SMARCB1 und SMARCE1 verursacht wird.

Literatur

Kerr et al.: Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease. Neurosurgery. 2018;83:1107-1118. PMID: 29660026

Synonyms

Alias: Familial multiple meningioma
Alias: Meningioma, familial, susceptibility to
Allelic: Basal cell nevus syndrome (SUFU)
Allelic: Basal cell nevus syndrome 1 (PTCH1)
Allelic: Basal ganglia calcification, idiopathic, 5 (PDGFB)
Allelic: CEBALID syndrome (MN1)
Allelic: Coffin-Siris syndrome 3 (SMARCB1)
Allelic: Coffin-Siris syndrome 5 (SMARCE1)
Allelic: Cowden syndrome 1 (PTEN)
Allelic: Dermatofibrosarcoma protuberans (PDGFB)
Allelic: Glioma susceptibility 2 (PTEN)
Allelic: Holoprosencephaly 7 (PTCH1)
Allelic: Joubert syndrome 32 (SUFU)
Allelic: Lhermitte-Duclos syndrome (PTEN)
Allelic: Macrocephaly/autism syndrome (PTEN)
Allelic: Medulloblastoma, desmoplastic (SUFU)
Allelic: Prostate cancer (PTEN)
Allelic: Rhabdoid tumors, somatic (SMARCB1)
Brain, CNS + PNS cancer [panelapp] (APC)
Brain, CNS + PNS cancer [panelapp] (LZTR1)
Brain, CNS + PNS cancer [panelapp] (MLH1)
Brain, CNS + PNS cancer [panelapp] (MSH2)
Brain, CNS + PNS cancer [panelapp] (MSH6)
Brain, CNS + PNS cancer [panelapp] (NF2)
Brain, CNS + PNS cancer [panelapp] (PMS2)
Brain, CNS + PNS cancer [panelapp] (PTCH1)
Brain, CNS + PNS cancer [panelapp] (PTEN)
Brain, CNS + PNS cancer [panelapp] (SMARCB1)
Brain, CNS + PNS cancer [panelapp] (SMARCE1)
Brain, CNS + PNS cancer [panelapp] (SUFU)
Brain, CNS + PNS cancer [panelapp] (TP53)
Meningioma (MN1)
Meningioma (PTEN)
Meningioma, NF2-related, somatic (NF2)
Meningioma, SIS-related (PDGFB)
Meningioma, familial, susceptibility to (SMARCE1)
Meningioma, familial, susceptibility to (SUFU)
Neurofibromatosis, type 2 (NF2)
Schwannomatosis, somatic (NF2)
Schwannomatosis-1, susceptibility to (SMARCB1)
Werner syndrome (WRN)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined