Immune Netw.  2013 Oct;13(5):222-226. 10.4110/in.2013.13.5.222.

A Novel Translocation Involving RUNX1 and HOXA Gene Clusters in a Case of Acute Myeloid Leukemia with t(7;21)(p15;q22)

• Moon Y
• Horsman DE
• Humphries
• Park G

• KMID: 1493618
• DOI: http://doi.org/10.4110/in.2013.13.5.222

Abstract

Translocations involving chromosome 21q22 are frequently observed in hematologic malignancies including acute myeloid leukemia (AML), most of which have been known to be involved in malignant transformation through transcriptional dysregulation of Runt-related transcription factor 1 (RUNX1) target genes. Nineteen RUNX1 translocational partner genes, at least, have been identified, but not Homeobox A (HOXA) genes so far. We report a novel translocation of RUNX1 into the HOXA gene cluster in a 57-year-old female AML patient who had been diagnosed with myelofibrosis 39 months ahead. G-banding showed 46,XX,t(7;21)(p15;q22). The involvement of RUNX1 and HOXA genes was confirmed by fluorescence in situ hybridization.

Keyword

AML; Translocation; t(7;21); RUNX1; HOXA

MeSH Terms

Core Binding Factor Alpha 2 Subunit
Female
Fluorescence
Genes, Homeobox
Hematologic Neoplasms
Humans
In Situ Hybridization
Leukemia, Myeloid, Acute*
Middle Aged
Multigene Family*
Primary Myelofibrosis
Core Binding Factor Alpha 2 Subunit

Figure

• 

  Figure 1 (A) Representative metaphase G-banding of the patient bone marrow aspirate showing 46,XX, t(7;21)(p22;q22). (B) Metaphase fluorescence in situ hybridization analysis using AML1/ETO dual-color, dual-fusion translocation probes demonstrate translocation of RUNX1 into chromosome 7; 2 usual-sized red signals on 2 intact chromosome 8, 1 usual-sized green signal on chromosome 21 (arrow), and tw1 small green signal each on derivative chromosome 21 (arrowhead) and derivative chromosome 7 (dotted arrow).

• 

  Figure 2 (A) BAC clone probes designed and HOXA gene clusters on chromosome 7p15.2. The arrow between the dotted and solid lines represents the break point area. (B) Metaphase FISH using the probe set RP11-163M21 and RP11-1148E13 showing translocation of the gene segment, including HOXA1-7, to derivative chromosome 21. (C) Metaphase FISH using probe set RP11-838G2 and RP11-1025G19 showing translocation of the gene segment, including a part of HOXA 9-13, to derivative chromosome 21. (D) Putative fusion gene map of t(7;21): RUNX1/HOXA9-13.

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