KEGG   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 [BR:br08402]
 Cancers
  Cancers of eye, brain, and central nervous system
   H01667  Medulloblastoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of brain or central nervous system
   2A00  Primary neoplasms of brain
    H01667  Medulloblastoma
Related
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: 2A00.10
ICD-10: C71.6
MeSH: D008527
OMIM: 155255
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
  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
  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
  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
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