t(1;7)(p36;p12) IKZF1/PRDM16

2016-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France. jean-loup.huret@chu-poitiers.fr


Review on t(1;7)(p36;p12) translocations, with data on clinics, and the genes involved.

Clinics and Pathology


A t(1;7)(p36;p12) was found in a case of myelodysplastic syndrome (MDS) (Duhoux et al., 2012).


A 66-year-old male patient who died 49 months after diagnosis.

Genes Involved and Proteins

Gene name
PRDM16 (PR domain containing 16)
Dna rna description
11 splice variants
Protein description
1276 amino acids and smaller proteins. Contains a N-term PR domain; 7 Zinc fingers, a proline-rich domain, and 3 Zinc fingers in the C-term. Binds DNA. Transcription activator; PRDM16 has an intrinsic histone methyltransferase activity. PRDM16 forms a transcriptional complex with CEBPB. PRDM16 plays a downstream regulatory role in mediating TGFB signaling (Bjork et al., 2010). PRDM16 induces brown fat determination and differentiation. PRDM16 is expressed selectively in the earliest stem and progenitor hematopoietic cells, and is required for the maintenance of the hematopoietic stem cell pool during development. PRDM16 is also required for survival, cell-cycle regulation and self-renewal in neural stem cells (Chuikov et al., 2010; Kajimura et al., 2010; Aguilo et al., 2011; Chi and Cohen, 2016). , ETV6 and IKZF1 are components of a network of heptad transcription factors (ERG, FLI1, GATA2, LMO2, LYL1, RUNX1, and TAL1 (SCL). This heptad acts in combination to regulate genes in hematopoietic stem and progenitor cells) that regulate the expression of a number of hematopoietic genes and whose high expression in acute myeloid leukemia is associated with poor prognosis (Unnikrishnan et al., 2016). IKZF1 deletions are associated with unfavorable prognosis in childhood B-cell precursor acute lymphoblastic leukemia (ALL) (Boer et al., 2016), and is associated with a higher relapse risk and worse survival in adults with common B-cell ALL (Yao et al., 2016). IKZF1 mutations were found in cases of common variable immunodeficiency syndrome with progressive B lymphopenia and an increased risk of acute lymphoblastic leukemia (Kuehn et al., 2016).
Gene name
IKZF1 (Ikaros family zinc finger 1)
Dna rna description
Numerous splice variants
Protein description
519 amino acids. Contains 6 Zn fingers (act as DNA-binding domain, and dimerization domain). Transcription regulator. IKZF1 is involved in chromatin remodeling complexes, such as nucleosome-remodeling and histone deacetylation (NuRD), and can both enhance and repress gene transcription. IKZF1 plays a key role in hematopoietic stem cell maintenance, B- and T-lymphopoiesis, erythropoiesis and the fetal-to-adult hemoglobin switch.

Result of the Chromosomal Anomaly


5 IKZF1 - 3 PRDM16


IKZF1 exon 3 joined to PRDM16 exon 3.


Pubmed IDLast YearTitleAuthors
262029312016Prognostic value of rare IKZF1 deletion in childhood B-cell precursor acute lymphoblastic leukemia: an international collaborative study.Boer JM et al
276048722016A quantitative proteomics approach identifies ETV6 and IKZF1 as new regulators of an ERG-driven transcriptional network.Unnikrishnan A et al
213436122011Prdm16 is a physiologic regulator of hematopoietic stem cells.Aguilo F et al
200079982010Prdm16 is required for normal palatogenesis in mice.Bjork BC et al
266884722016The Multifaceted Roles of PRDM16: Adipose Biology and Beyond.Chi J et al
208352442010Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress.Chuikov S et al
220507632012PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.Duhoux FP et al
196414922009Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex.Kajimura S et al
269819332016Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.Kuehn HS et al
270679892016Prognostic impact of IKZF1 deletion in adults with common B-cell acute lymphoblastic leukemia.Yao QM et al


Fusion gene



Jean-Loup Huret

t(1;7)(p36;p12) IKZF1/PRDM16

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1656/t(1;7)(p36;p12)

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