Acute myeloid leukemia (AML) may be associated with a number of cytogenetic abnormalities, some of which may impact the course of the disease. Mutations involving chromosome 3 at q21 to q26 can result in the 3q21q26 syndrome.


Types of chromosomal aberrations:

(1) inv(3)(q21q26)

(2) t(3;3)(q21;q26)


Genes affected:

(1) RPN1 (ribophorin I) at 3q21.3

(2) MECOM MDS1 and EVI1 complex at 3q26



(1) The AML occurs in adults and may arise de novo or following myelodysplasia or associated with a myeloproliferative disorder in blast crisis.

(2) The platelet counts in the peripheral blood may be normal or elevated.

(3) a proliferation of atypical megakaryocytes in the bone marrow with mono- or bi-lobated nuclei

(4) preceding multi-lineage dysplasia in the bone marrow

(5) additional karyotypic abnormalities (monosomy 7, 5q deletion, etc) are common

(6) aggressive course with poor prognosis (high risk)

(7) poor response to conventional chemotherapy


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