KEGG   DISEASE: 神経鞘腫
エントリ  
H02945                                                             
名称    
神経鞘腫
概要    
Schwannomatosis (SWN) is a third form of neurofibromatosis and is characterized by the predisposition for developing multiple schwannomas. It is clinically and genetically distinct from neurofibromatosis type 1 [DS:H01437] and type 2 [DS:H01438]. Patients with schwannomatosis most commonly develop symptoms in the second or third decade of life. Patients typically present with complaints of pain and a mass. Germline mutations in SMARCB1 have been identified in 40-50% of kindreds affected by familial schwannomatosis. SMARCB1 is a subunit of the SWI/SNF complex, an ATP-dependent chromatin-remodeling complex. Recently, germline mutations in LZTR1 were identified in schwannomatosis cases lacking mutations in SMARCB1. The LZTR1 protein is involved in multiple cellular processes, including regulation of chromatin conformation and the cell cycle.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2D  母斑症または過誤腫性腫瘍性症候群
    H02945  神経鞘腫
病因遺伝子 
(SWN1) SMARCB1 [HSA:6598] [KO:K11648]
(SWN2) LZTR1 [HSA:8216] [KO:K23330]
リンク   
ICD-11: LD2D.1Y
MeSH: C536641
OMIM: 162091 615670
文献    
PMID:19582488
  著者
Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L
  タイトル
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.
  雑誌
Neurogenetics 11:73-80 (2010)
DOI:10.1007/s10048-009-0204-2
文献    
PMID:24362817
  著者
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM
  タイトル
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
  雑誌
Nat Genet 46:182-7 (2014)
DOI:10.1038/ng.2855
文献    
PMID:26851632
  著者
Blakeley JO, Plotkin SR
  タイトル
Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.
  雑誌
Neuro Oncol 18:624-38 (2016)
DOI:10.1093/neuonc/nov200
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