KEGG DISEASE: 髄芽腫

DISEASE: 髄芽腫

エントリ

H01667

名称

髄芽腫

概要

Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.

カテゴリ

がん

階層分類

ICD-11 による疾患分類 [BR:jp08403]
02 腫瘍
  脳または中枢神経系の腫瘍
   2A00  脳の原発性腫瘍
    H01667  髄芽腫

パスウェイ

hsa04310

Wnt signaling pathway

hsa04340

Hedgehog signaling pathway

病因遺伝子

PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]

治療薬

シスプラチン [DR:D00275]
インターフェロンベータ [DR:D03304]

リンク

ICD-11:

2A00.10

MeSH:

D008527

OMIM:

155255

文献

PMID:18676356 (GENE)

著者

de Bont JM, Packer RJ, Michiels EM, den Boer ML, Pieters R

タイトル

Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective.

雑誌

Neuro Oncol 10:1040-60 (2008)
DOI:10.1215/15228517-2008-059

文献

PMID:26350064

著者

Skowron P, Ramaswamy V, Taylor MD

タイトル

Genetic and molecular alterations across medulloblastoma subgroups.

雑誌

J Mol Med (Berl) 93:1075-84 (2015)
DOI:10.1007/s00109-015-1333-8

文献

PMID:25768332

著者

Gopalakrishnan V, Tao RH, Dobson T, Brugmann W, Khatua S

タイトル

Medulloblastoma development: tumor biology informs treatment decisions.

雑誌

CNS Oncol 4:79-89 (2015)
DOI:10.2217/cns.14.58

文献

PMID:25348790

著者

Gajjar AJ, Robinson GW

タイトル

Medulloblastoma-translating discoveries from the bench to the bedside.

雑誌

Nat Rev Clin Oncol 11:714-22 (2014)
DOI:10.1038/nrclinonc.2014.181

文献

PMID:32296180 (ELP1)

著者

Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jager N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schuz J, Johansen C, Andersen TV, Roosli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM

タイトル

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

雑誌

Nature 580:396-401 (2020)
DOI:10.1038/s41586-020-2164-5

LinkDB

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