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A large exon 6 break in V-form acute promyelocytic leukemia: relevance to clinical management

Leukemia volume 21, pages 2356–2357 (2007)Cite this article

Acute promyelocytic leukemia (APL), which accounts for about 10% of acute myeloid leukemias, is characterized by the presence of the specific chromosomal translocation t(15;17)(q22;q21). This translocation produces the fusion of the retinoic acid receptor α (RARA) gene on chromosome 17 with the promyelocytic leukemia (PML) gene.1 The breakpoints in the RARA gene are located within 15 kb of intron 2. Three regions of the PML locus are involved in the translocation breakpoints: bcr1 in intron 6, bcr3 in intron 3 and bcr2 in exon 6. Patients with short bcr2 transcripts as a consequence of exon 6 PML deletions are referred as V-form PML-RARa.2, 3, 4

In this work, we report an unusually large exon 6 PML deletion (161 bp) associated with a short intron capture (5 bp), giving rise to a net 156 bp deletion (52 amino acids). The outcome was good.

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Authors and Affiliations

  1. Department of Hematology at Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

    E Bussaglia & J F Nomdedéu

  2. Hospital Josep Trueta in Girona, Girona, Spain

    R Guardia

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  1. E Bussaglia
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  2. R Guardia
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  3. J F Nomdedéu
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Correspondence to J F Nomdedéu.

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Bussaglia, E., Guardia, R. & Nomdedéu, J. A large exon 6 break in V-form acute promyelocytic leukemia: relevance to clinical management. Leukemia 21, 2356–2357 (2007). https://doi.org/10.1038/sj.leu.2404799

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