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
Features:
(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
