Acute myeloid leukemia

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Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

ORPHA:402020Disease

Also called AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

What it is

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

Key facts

Inheritance
Not applicable
Classified as
Disease

Recorded for the broader condition

Prevalence
1-9 / 1 000 000 (annual incidence, Europe)Acute myeloid leukemia with recurrent genetic anomaly

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

MECOMPart of a fusion gene
RPN1Part of a fusion gene

ICD-10 codes

C92.0filed under a broader ICD-10 category — shared with 13 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 12759MONDO 0018435UMLS C2826172

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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