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Desmoplastic infantile astrocytoma/ganglioglioma

MedGen UID:
1665232
Concept ID:
C4757951
Neoplastic Process
Synonyms: Desmoplastic infantile astrocytoma and ganglioglioma; desmoplastic infantile astrocytoma/ganglioglioma; DIA/DIG; DIA/DIG - desmoplastic infantile astrocytoma/ganglioglioma
SNOMED CT: Desmoplastic infantile astrocytoma and ganglioglioma (780822000); DIA/DIG - desmoplastic infantile astrocytoma/ganglioglioma (780822000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016731
Orphanet: ORPHA251940

Definition

A mixed neuronal-glial tumour representing a histological spectrum of the same tumour. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterised by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumour, signs of raised intracranial pressure (headache, vomiting, papilloedema), focal neurological signs and sometimes seizures. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDesmoplastic infantile astrocytoma/ganglioglioma

Professional guidelines

PubMed

Tauziède-Espariat A, Beccaria K, Dangouloff-Ros V, Sievers P, Meurgey A, Pissaloux D, Appay R, Saffroy R, Grill J, Mariet C, Bourdeaut F, Hasty L, Métais A, Chrétien F, Blauwblomme T, Puget S, Boddaert N, Varlet P; RENOCLIP-LOC
Brain Pathol 2023 Sep;33(5):e13182. Epub 2023 Jun 22 doi: 10.1111/bpa.13182. PMID: 37349135Free PMC Article

Recent clinical studies

Etiology

Greer A, Foreman NK, Donson A, Davies KD, Kleinschmidt-DeMasters BK
Pediatr Blood Cancer 2017 Jun;64(6) Epub 2016 Nov 10 doi: 10.1002/pbc.26350. PMID: 27860162Free PMC Article

Diagnosis

Chatterjee D, Garg C, Singla N, Radotra BD
Hum Pathol 2018 Oct;80:186-191. Epub 2018 Jun 11 doi: 10.1016/j.humpath.2018.06.005. PMID: 29902580

Therapy

Greer A, Foreman NK, Donson A, Davies KD, Kleinschmidt-DeMasters BK
Pediatr Blood Cancer 2017 Jun;64(6) Epub 2016 Nov 10 doi: 10.1002/pbc.26350. PMID: 27860162Free PMC Article

Prognosis

Chiang J, Li X, Jin H, Wu G, Lin T, Ellison DW
Neuropathol Appl Neurobiol 2022 Jun;48(4):e12801. Epub 2022 Mar 1 doi: 10.1111/nan.12801. PMID: 35191090Free PMC Article
Chatterjee D, Garg C, Singla N, Radotra BD
Hum Pathol 2018 Oct;80:186-191. Epub 2018 Jun 11 doi: 10.1016/j.humpath.2018.06.005. PMID: 29902580

Supplemental Content

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