Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM

Preferred Label : Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM;

NCIt synonyms : Acute Myeloid Leukemia with t(3;3)(q21;q26.2); RPN1-EVI1; Acute Myeloid Leukemia with t(3;3)(q21.3;q26.2); GATA2::MECOM; Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, EVI1; Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM(EVI1);

NCIt related terms : AML with inv(3)(q21;q26.2) or t(3;3) (q21;q26.2);RPNI-EVI1;

NCIt definition : An acute myeloid leukemia associated with t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive.;

Neoplastic status : Malignant;

Details

Origin ID

C122717;

UMLS CUI

C4055495;

Disease excludes abnormal cell
- Neoplastic Lymphoblast [NCIt concept]
Disease excludes normal cell origin
- Lymphocyte [NCIt concept]
Disease may have findings
- Bone Marrow Dysplasia Present [NCIt concept]
- 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;3)(q21.3;q26.2) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Cytogenetic Abnormalities Not Detected [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
- Aggressive Clinical Course [NCIt concept]
- Blasts 10 Percent or More of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts 10 Percent or More of Peripheral Blood White Cells [NCIt concept]
- Distal GATA2 Enhancer Repositioning [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
- MECOM Gene [NCIt concept]

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