Medulloblastoma arises from the cerebellar stem cells, which are normally involved in the anatomical development of the cerebellum and posterior cranial fossa structures. Medulloblastoma is an invasive and rapidly growing brain tumor which may metastasize to different organs of the body. Genes involved in the pathogenesis of medulloblastoma include CTNNB1 gene, PTCH1 gene, MLL2 gene, SMARCA4 gene, DDX3X gene, CTDNEP1 gene, KDM6A gene, and TBR1 gene. Medullobastomas are associated with a number of syndromes that include Gorlin syndrome and Turcot syndrome.^[1] On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma. On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasmic ratio, and Homer-Wright rosettes are characteristic findings of medulloblastoma.^[2]

• Medulloblastoma arises from the cerebellar stem cells, which are normally involved in the anatomical development of the cerebellum and posterior cranial fossa structures.^[1][3]
• Medulloblastoma is usually located at the infratentorial region, where it forms a mass between the brain stem and the cerebellum in the vicinity of the fourth ventricle.
• Medulloblastoma is an invasive and rapidly growing brain tumor.
• Unlike most brain tumors, medulloblastoma may spread through the cerebrospinal fluid and metastasize to different organs of the body.

• Development of medulloblastoma is the result of multiple genetic mutations.^[1][4][5][6]
• Genes involved in the pathogenesis of medulloblastoma include:

• CTNNB1 gene on chromosome 3
• PTCH1 gene located on chromosome 9
• MLL2 gene located on chromosome 12
• SMARCA4 gene located on chromosome 19
• DDX3X gene located on X chromosome
• CTDNEP1 gene located on chromosome 17
• KDM6A gene located on X chromosome
• TBR1 gene located on chromosome 2

• Medulloblastoma may be classified into at least four major subtypes based on a molecular classification system which includes:^[7][8][9]

• WNT subgroup:

• Present among 10% of medulloblastoma patients
• Cytogenetic markers include classic monosomy 6
• Molecular markers include beta-catenin

• SHH subgroup:

• Present among 25% of medulloblastoma patients
• Cytogenetic markers include chromosome 9q deletion
• Molecular markers include SFRP1 or GAB1

• Group 3:

• Present among 30% of medulloblastoma patients
• Cytogenetic markers include isochromosome 17q
• Molecular markers include MYC activation

• Group 4:

• Present among 35% of medulloblastoma patients
• Cytogenetic markers include isochromosome 17q
• Molecular markers are still under investigation

• Medulloblastoma is associated with a number of syndromes that include:^[1][10]

• Gorlin syndrome^[11]
• Turcot syndrome
• Coffin-Siris syndrome
• Cowden syndrome
• Gardner syndrome
• Li-Fraumeni syndrome
• Rubinstein-Taybi syndrome

• On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma.^[1]
• The following image demonstrates the gross pathology observed in medulloblastoma:

• On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasm ratio, and Homer-Wright rosettes are characteristic findings of medulloblastoma.^[2][12]
• Medulloblastoma may be classified into two subtypes based on WHO histological classification system which include classic medulloblastoma and variant medulloblastoma.
• Variant medulloblastoma may be further classified into desmoplastic medulloblastoma, large cell medulloblastoma, anaplastic​ medulloblastoma, and medulloblastoma with extensive nodularity.^[2][10]
  
• The table below differentiates between the five main groups of medulloblastoma according to the WHO histological classification system:^[13]

• Shown below is a series of microscopic images observed in medulloblastoma:

• 
  Medulloblastoma ^[2]
• 
  Medulloblastoma^[2]
• 
  Medulloblastoma demonstrating Homer-Wright rosettes^[2]
• 
  Medulloblastoma demonstrating cerebellar infiltrative growth^[2]
• 
  Medulloblastoma demonstrating demsomplastic nodular growth^[2]
• 
  Anaplastic large cell medulloblastoma^[2]
• 
  Medulloblastoma^[2]
• 
  Desmoplastic medulloblastoma on reticulin stain demonstrating pale islands structure^[2]
• 
  Desmoplastic medulloblastoma on MIB-1 immunostaining^[2]
• 
  Medulloblastoma demonstrating areas of geographic necrosis^[2]
• 
  Medulloblastoma demonstrating epitheloid ribboning and nuclear moulding of tumor cells^[2]
• 
  Medulloblastoma demonstrating partial MAP2 immunoreactivity^[2]

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