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Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

MedGen UID:
415269
Concept ID:
C2826172
Neoplastic Process
Synonyms: acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2); Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, EVI1; Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM; Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM(EVI1); Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2::MECOM; Acute Myeloid Leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1; Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1; acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2); acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2); Acute myeloid leukemia with MECOM rearrangement; Acute Myeloid Leukemia with MECOM Rearrangements; AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2); AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2); AML with MECOM Rearrangements
SNOMED CT: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 (450929006); Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 (780844005); Acute myeloid leukemia with MECOM rearrangement (450929006)
 
Monarch Initiative: MONDO:0018435

Definition

A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

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