Pituitary Gland Blastoma

Preferred Label : Pituitary Gland Blastoma;

NCIt synonyms : Pituitary Gland Embryoma; Pituitary Embryoma; Pituitary Blastoma;

NCIt definition : A rare developmental early childhood neoplasm, arising within the fetal anterior pituitary. It is associated with DICER1 mutations. Patients present with features of Cushing disease, with elevated blood ACTH levels and hypercortisolism. Ophthalmoplegia is a frequent symptom. The overall prognosis is poor. (WHO);

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL555935;

Détails

Origin ID

C155304;

UMLS CUI

C4743978;

Currated CISMeF NLP mapping
- Pituitary blastoma [ICD-11 Extension code]
Disease may have findings
- Aggressive Clinical Course [NCIt concept]
- Ophthalmoplegia [NCIt concept]
Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Base of the Skull [NCIt concept]
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Head and Neck [NCIt concept]
- Nervous System [NCIt concept]
- Pituitary Gland [NCIt concept]
- Sellar Region [NCIt concept]
- Skull [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Blastemal Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_associated_disease
- Cushing Disease [NCIt concept]
- DICER1 Syndrome [NCIt concept]
disease_has_finding
- DICER1 Gene Alteration Positive [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- DICER1 Gene Mutation [NCIt concept]
- Germline DICER1 Loss of Function Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Anterior Lobe of the Pituitary Gland [NCIt concept]
disease_mapped_to_gene
- DICER1 Gene [NCIt concept]
disease_may_have_molecular_abnormality
- Somatic DICER1 RNase IIIb Hotspot Gene Mutation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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