Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) [inv3/t(3;3)] is a distinct entity under the subgroup of AMLs with recurrent genetic abnormalities in the 2008 World Health Organization classification. Myelodysplastic syndrome (MDS) with inv3/t(3;3) has a high risk of progression to AML. AML and MDS with inv3/t(3;3) have a similarly aggressive clinical course with short overall survival (OS) and are commonly refractory to therapy. In this article, clinical and pathologic features and prognosis in AML and MDS with inv3/t(3;3) are reviewed, and other myeloid neoplasms with similar dysplastic features to be differentiated from AML and MDS with inv3/t(3;3) are discussed.
Keywords: Acute myeloid leukemia; Dysmegakaryopoiesis; Dysregulated EVI1; Multilineage dysplasia; Myelodysplastic syndrome; inv(3)(q21q26.2); t(3;3)(q21;q26.2).
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