Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM

Preferred Label : Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM;

NCIt synonyms : Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6::MECOM; AML with t(3;12)(q26.2;p13.2); ETV6::MECOM; AML with t(3;12)(q26.2;p13.2); ETV6-MECOM; Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6::MECOM Fusion; Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM Fusion;

NCIt definition : An acute myeloid leukemia associated with t(3;12)(q26.2;p13.2) resulting in the expression of ETV6-MECOM fusion gene.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1906294;

Details

Origin ID

C198849;

UMLS CUI

C5855171;

Disease excludes abnormal cell
- Neoplastic Lymphoblast [NCIt concept]
Disease excludes normal cell origin
- Lymphocyte [NCIt concept]
Disease may have findings
- Hypercellular Bone Marrow [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Has cytogenetic abnormalities
- Chromosomal Rearrangement [NCIt concept]
- MECOM Gene Rearrangement [NCIt concept]
- t(3;12)(q26.2;p13.2) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Cytogenetic Abnormalities Not Detected [NCIt concept]
- Distal GATA2 Enhancer Repositioning [NCIt concept]
- Solid Growth Pattern [NCIt concept]
disease_has_abnormal_cell
- Leukemic Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloblast [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_finding
- Blasts 10 Percent or More of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts 10 Percent or More of Peripheral Blood White Cells [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Fusion Protein Expression [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ETV6/MECOM Fusion Gene [NCIt concept]
- MECOM Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ETV6/MECOM Fusion Gene [NCIt concept]

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