Abstract
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.
Highlights
Disruption of chromosome locus 3q26 is an uncommon recurrent cytogenetic abnormality that occurs in a small percentage of cases of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS)
42 patients have been recorded in the Mitelman database, including AML (n=35), CML (n=4), and MDS (n=3) [13]
We show that myeloid neoplasms associated with t(3;12) are mostly adults who usually presented with anemia and had poor clinical outcome
Summary
Disruption of chromosome locus 3q26 is an uncommon recurrent cytogenetic abnormality that occurs in a small percentage of cases of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The ecotropic viral integration site 1 (EVI1) gene, located on chromosome 3q26.2, known as MECOM gene, has been shown to be activated in at least a subset of these meyleoid neoplasms. EVI1 is activated in various AML associated cytogenetic abnormalities, such as inv(3)(q21q26.2) or t(3;3)(q21;q26.2)/EVI1-GATA1. The t(3;12)(q26.2;p13) is a rare recurrent event in cases of AML, MDS, and blast phase of CML [1,2,3]. The ETV6 gene (ETS variant 6), called Translocation Ets Leukemia (TEL), is located on 12p13 and encodes for a transcription factor that is a target of deletions and translocations in both myeloid and lymphoid malignancies. ETV6 rearrangements are much less frequent in myeloid neoplasms [4]
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