Medulloblastoma

Preferred Label : Medulloblastoma;

Symbol : MDB;

CISMeF acronym : MBEN; MDB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Medulloblastoma predisposition syndrome;

Description : Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).;

Inheritance : Autosomal dominant; Autosomal recessive; Somatic mutation;

Molecular basis : Caused by somatic mutation in the patched 2 gene (PTCH2, 603673.0001); Caused by somatic mutation in the catenin beta 1 gene (CTNNB1, 116806.0007); Caused by mutation in the BRCA2 gene (BRCA2, 600185.0027); Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, 607035.0005);

Neoplasia : Medulloblastoma;

Laboratory abnormalities : Loss of heterozygosity for 17p sequences in 45% of medulloblastomas; Isochromosome 17q frequent in cytogenetic studies;

Prefixed ID : #155255;

Details

Origin ID

155255;

UMLS CUI

C0025149;

Automatic exact mappings (from CISMeF team)
- 1,3-benzodioxole [MeSH concept]
- 1,3-benzodioxole [MeSH Supplementary Concept]
- ABR activator of RhoGEF and GTPase [HGNC gene]
- Adult Medulloblastoma [NCIt concept]
- Childhood Medulloblastoma [NCIt concept]
- Desmoplastic medulloblastoma [ICD-O code]
- Desmoplastic medulloblastoma [ICD-9 code]
- Desmoplastic medulloblastoma (morphologic abnormality) [SNOMED CT concept]
- Desmoplastic nodular medulloblastoma [ICD-11 Extension code]
- Desmoplastic/Nodular Medulloblastoma [NCIt concept]
- Desmoplastic/nodular medulloblastoma [ORDO Disease]
- Medulloblastoma [ACR pathology]
- Medulloblastoma [ACR pathology]
- Medulloblastoma NOS [ICD-9 code]
- Medulloblastoma with Extensive Nodularity [NCIt concept]
- Medulloblastoma with extensive nodularity [ICD-11 Extension code]
- Medulloblastoma with extensive nodularity [ORDO Disease]
- Medulloblastoma with extensive nodularity (morphologic abnormality) [SNOMED CT concept]
- desmoplastic medulloblastoma [SNOMED Notion]
- desmoplastic medulloblastoma [Radlex concept]
Currated CISMeF NLP mapping
- Classic medulloblastoma [ORDO Disease]
- Medulloblastoma [PASCAL descriptor]
- Medulloblastoma [HPO term]
- Medulloblastoma [MedDRA Preferred Term]
- Medulloblastoma [NCIt concept]
- Medulloblastoma [ORDO Disease]
- Medulloblastoma [HRDO Sign]
- Medulloblastoma (disorder) [SNOMED CT concept]
- Medulloblastoma, NOS [ICD-O code]
- Medulloblastoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- medulloblastoma [DO Concept]
- medulloblastoma [Disease (Nov.)]
- medulloblastoma [MeSH Descriptor]
- medulloblastoma [MeSH concept]
- medulloblastoma [Radlex concept]
- medulloblastoma, nos [SNOMED Notion]
DO Cross reference
- medulloblastoma [DO Concept]
Genes related to phenotype
- Brca2 dna repair-associated protein [OMIM gene]
- Catenin, beta-1 [OMIM gene]
- Elongator complex protein 1 [OMIM gene]
- G protein-coupled receptor 161: gpr161 [OMIM gene]
- Patched 2 [OMIM gene]
- Sufu negative regulator of hedgehog signaling [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Medulloblastoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Classic medulloblastoma [ORDO Disease]
- Desmoplastic/nodular medulloblastoma [ORDO Disease]
- Medulloblastoma [ORDO Disease]
- Medulloblastoma with extensive nodularity [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Medulloblastoma [MedDRA Preferred Term]
- Medulloblastoma [ORDO Disease]
- Medulloblastoma [NCIt concept]
- Medulloblastoma [HPO term]
- Medulloblastoma [HRDO Sign]
- Medulloblastoma [PASCAL descriptor]
- Medulloblastoma (disorder) [SNOMED CT concept]
- Medulloblastoma (morphologic abnormality) [SNOMED CT concept]
- Medulloblastoma - category (morphologic abnormality) [SNOMED CT concept]
- Medulloblastoma, NOS [ICD-O code]
- Medulloblastoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- medulloblastoma [MeSH Descriptor]
- medulloblastoma [MeSH concept]
- medulloblastoma [Radlex concept]
- medulloblastoma [DO Concept]
- medulloblastoma [Disease (Nov.)]
- medulloblastoma, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- classic medulloblastoma [Disease (Nov.)]
- desmoplastic medulloblastoma [Disease (Nov.)]

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