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Myeloid Neoplasms Associated with t(3;12)(q26.2;P13) Are Clinically Aggressive and Frequently Harbor FLT3 Mutations: A Report of 8 Cases and Review of Literature

Xiaohong I Wang, Xinyan Lu, C.Cameron Yin , Lian Zhao, Carlos E Bueso-Ramos, Jeffrey Medeiros L, Shaoying Li, Heesun J Rogers, Eric D Hsi and Pei Lin

The t(3;12)(q26.2;p13) involving EVI1/ETV 6 is a rare recurrent translocation that has been identified in myeloid neoplasms. The clinicopathologic features of these are not well characterized. We identified 5 cases of Acute Myeloid Leukemia (AML) and 3 cases of Myelodysplastic Syndrome (MDS) associated with t(3;12)(q26.2;p13). There were 5 men and 3 women, with a median age of 60 years. The AML cases included 2 de novo, 2 arising from prior MDS and 1 relapsed AML. The median bone marrow blast count was 50% (range, 35-91%). Dysplasia involving one or more lineages dysplasia was noted in all cases. Of the 3 MDS cases, two were classified as refractory anemia with excess blasts and one therapy related. Two that had follow up data rapidly evolved to AML within 6 months. Conventional cytogenetic analysis showed t(3;12) (q26.2;p13) in all neoplasms and additional abnormalities in 5 patients, Including chromosome 7 abnormalities in 3 patients. FISH confirmed ETV6 rearrangement in all 3 cases assessed and EVI1 rearrangement in both cases assessed. FLT3 ITD was identified in 3 of 5 cases assessed. The median overall survival was 12 months (range, 7-58 months). We conclude that t(3;12) can occur as either a primary or secondary event in myeloid neoplasms. The t(3;12) is associated with multilineage dysplasia, chromosome 7 aberrations and an aggressive clinical course.