KEGG DISEASE: Medulloblastoma

DISEASE: Medulloblastoma

Entry

H01667                      Disease

Name

Medulloblastoma

Description

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.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Neoplasms of brain or central nervous system
   2A00  Primary neoplasms of brain
    H01667  Medulloblastoma
Cancer-associated carbohydrates [br08441.html]
H01667

Pathway

hsa04310

Wnt signaling pathway

hsa04340

Hedgehog signaling pathway

Gene

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]

Drug

Carmustine [DR:D00254]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18676356 (GENE)

Authors

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

Title

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

Journal

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

Reference

PMID:26350064

Authors

Skowron P, Ramaswamy V, Taylor MD

Title

Genetic and molecular alterations across medulloblastoma subgroups.

Journal

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

Reference

PMID:25768332

Authors

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

Title

Medulloblastoma development: tumor biology informs treatment decisions.

Journal

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

Reference

PMID:25348790

Authors

Gajjar AJ, Robinson GW

Title

Medulloblastoma-translating discoveries from the bench to the bedside.

Journal

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

Reference

PMID:32296180 (ELP1)

Authors

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

Title

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Journal

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

LinkDB

» Japanese version

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