PMID- 29660026
OWN - NLM
STAT- MEDLINE
DCOM- 20190917
LR  - 20190917
IS  - 1524-4040 (Electronic)
IS  - 0148-396X (Print)
IS  - 0148-396X (Linking)
VI  - 83
IP  - 6
DP  - 2018 Dec 1
TI  - Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into 
      Sporadic Disease.
PG  - 1107-1118
LID - 10.1093/neuros/nyy121 [doi]
AB  - Currently, there is an incomplete understanding of the molecular pathogenesis of 
      meningiomas, the most common primary brain tumor. Several familial syndromes are 
      characterized by increased meningioma risk, and the genetics of these syndromes 
      provides mechanistic insight into sporadic disease. The best defined of these 
      syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 
      gene and has a meningioma incidence of approximately 50%. This finding led to the 
      subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic 
      tumors. Other important familial diseases with increased meningioma risk include 
      nevoid basal cell carcinoma syndrome, multiple endocrine neoplasia 1 (MEN1), 
      Cowden syndrome, Werner syndrome, BAP1 tumor predisposition syndrome, 
      Rubinstein-Taybi syndrome, and familial meningiomatosis caused by germline 
      mutations in the SMARCB1 and SMARCE1 genes. For each of these syndromes, the 
      diagnostic criteria, incidence in the population, and frequency of meningioma are 
      presented to review the relevant clinical information for these conditions. The 
      genetic mutations, molecular pathway derangements, and relationship to sporadic 
      disease for each syndrome are described in detail to identify targets for further 
      investigation. Familial syndromes characterized by meningiomas often affect genes 
      and pathways that are also implicated in a subset of sporadic cases, suggesting 
      key molecular targets for therapeutic intervention. Further studies are needed to 
      resolve the functional relevance of specific genes whose significance in sporadic 
      disease remains to be elucidated.
FAU - Kerr, Keith
AU  - Kerr K
AD  - Vivian L. Smith Department of Neurosurgery, University of Texas Health Science 
      Center at Houston, Texas.
FAU - Qualmann, Krista
AU  - Qualmann K
AD  - Vivian L. Smith Department of Neurosurgery, University of Texas Health Science 
      Center at Houston, Texas.
FAU - Esquenazi, Yoshua
AU  - Esquenazi Y
AD  - Vivian L. Smith Department of Neurosurgery, University of Texas Health Science 
      Center at Houston, Texas.
FAU - Hagan, John
AU  - Hagan J
AD  - Vivian L. Smith Department of Neurosurgery, University of Texas Health Science 
      Center at Houston, Texas.
FAU - Kim, Dong H
AU  - Kim DH
AD  - Vivian L. Smith Department of Neurosurgery, University of Texas Health Science 
      Center at Houston, Texas.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Neurosurgery
JT  - Neurosurgery
JID - 7802914
SB  - IM
CIN - Neurosurgery. 2019 Aug 1;85(2):E396. PMID: 31058976
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Humans
MH  - Male
MH  - Meningeal Neoplasms/*genetics/pathology
MH  - Meningioma/*genetics/pathology
MH  - Syndrome
PMC - PMC6235681
EDAT- 2018/04/17 06:00
MHDA- 2019/09/19 06:00
PMCR- 2018/04/11
CRDT- 2018/04/17 06:00
PHST- 2017/12/05 00:00 [received]
PHST- 2018/03/12 00:00 [accepted]
PHST- 2018/04/17 06:00 [pubmed]
PHST- 2019/09/19 06:00 [medline]
PHST- 2018/04/17 06:00 [entrez]
PHST- 2018/04/11 00:00 [pmc-release]
AID - 4967789 [pii]
AID - nyy121 [pii]
AID - 10.1093/neuros/nyy121 [doi]
PST - ppublish
SO  - Neurosurgery. 2018 Dec 1;83(6):1107-1118. doi: 10.1093/neuros/nyy121.