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

Written2016-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France.

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

Keywords chromosome 1; chromosome7; t(1;7)(p36;p12); PRDM16; IKZF1

(Note : for Links provided by Atlas : click)


ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1656

Clinics and Pathology

Disease A t(1;7)(p36;p12) was found in a case of myelodysplastic syndrome (MDS) (Duhoux et al., 2012).
Clinics A 66-year-old male patient who died 49 months after diagnosis.


Cytogenetics Morphological A +8 was present.

Genes involved and Proteins

Gene NamePRDM16 (PR domain containing 16)
Location 1p36.32
Dna / Rna 11 splice variants
Protein 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).
Gene NameIKZF1 (Ikaros family zinc finger 1)
Location 7p12.2
Dna / Rna Numerous splice variants
Protein 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.
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).

Result of the chromosomal anomaly

Hybrid gene
Description 5' IKZF1 - 3' PRDM16
Transcript IKZF1 exon 3 joined to PRDM16 exon 3.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Prognostic value of rare IKZF1 deletion in childhood B-cell precursor acute lymphoblastic leukemia: an international collaborative study.
Boer JM, van der Veer A, Rizopoulos D, Fiocco M, Sonneveld E, de Groot-Kruseman HA, Kuiper RP, Hoogerbrugge P, Horstmann M, Zaliova M, Palmi C, Trka J, Fronkova E, Emerenciano M, do Socorro Pombo-de-Oliveira M, Mlynarski W, Szczepanski T, Nebral K, Attarbaschi A, Venn N, Sutton R, Schwab CJ, Enshaei A, Vora A, Stanulla M, Schrappe M, Cazzaniga G, Conter V, Zimmermann M, Moorman AV, Pieters R, den Boer ML.
Leukemia. 2016 Jan;30(1):32-8. doi: 10.1038/leu.2015.199. Epub 2015 Jul 23.
PMID 26202931
A quantitative proteomics approach identifies ETV6 and IKZF1 as new regulators of an ERG-driven transcriptional network.
Unnikrishnan A, Guan YF, Huang Y, Beck D, Thoms JA, Peirs S, Knezevic K, Ma S, de Walle IV, de Jong I, Ali Z, Zhong L, Raftery MJ, Taghon T, Larsson J, MacKenzie KL, Van Vlierberghe P, Wong JW, Pimanda JE.
Nucleic Acids Res. 2016 Sep 6. pii: gkw804. [Epub ahead of print]
PMID 27604872
Prdm16 is a physiologic regulator of hematopoietic stem cells.
Aguilo F, Avagyan S, Labar A, Sevilla A, Lee DF, Kumar P, Lemischka IR, Zhou BY, Snoeck HW.
Blood. 2011 May 12;117(19):5057-66. doi: 10.1182/blood-2010-08-300145. Epub 2011 Feb 22.
PMID 21343612
Prdm16 is required for normal palatogenesis in mice.
Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR.
Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 11.
PMID 20007998
The Multifaceted Roles of PRDM16: Adipose Biology and Beyond.
Chi J, Cohen P.
Trends Endocrinol Metab. 2016 Jan;27(1):11-23. doi: 10.1016/j.tem.2015.11.005. Epub 2015 Dec 11. Review.
PMID 26688472
Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress.
Chuikov S, Levi BP, Smith ML, Morrison SJ.
Nat Cell Biol. 2010 Oct;12(10):999-1006. doi: 10.1038/ncb2101. Epub 2010 Sep 12.
PMID 20835244
PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.
Duhoux FP, Ameye G, Montano-Almendras CP, Bahloula K, Mozziconacci MJ, Laibe S, Wlodarska I, Michaux L, Talmant P, Richebourg S, Lippert E, Speleman F, Herens C, Struski S, Raynaud S, Auger N, Nadal N, Rack K, Mugneret F, Tigaud I, Lafage M, Taviaux S, Roche-Lestienne C, Latinne D, Libouton JM, Demoulin JB, Poirel HA; Groupe Francophone de Cytogénétique Hématologique (GFCH); Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO).
Br J Haematol. 2012 Jan;156(1):76-88. doi: 10.1111/j.1365-2141.2011.08918.x. Epub 2011 Nov 3.
PMID 22050763
Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex.
Kajimura S, Seale P, Kubota K, Lunsford E, Frangioni JV, Gygi SP, Spiegelman BM.
Nature. 2009 Aug 27;460(7259):1154-8. Epub 2009 Jul 29.
PMID 19641492
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.
N Engl J Med. 2016 Mar 17;374(11):1032-43. doi: 10.1056/NEJMoa1512234.
PMID 26981933
Prognostic impact of IKZF1 deletion in adults with common B-cell acute lymphoblastic leukemia.
Yao QM, Liu KY, Gale RP, Jiang B, Liu YR, Jiang Q, Jiang H, Zhang XH, Zhang MJ, Chen SS, Huang XJ, Xu LP, Ruan GR.
BMC Cancer. 2016 Apr 11;16:269. doi: 10.1186/s12885-016-2300-7.
PMID 27067989


This paper should be referenced as such :
Jean-Loup Huret
t(1;7)(p36;p12) IKZF1/PRDM16
Atlas Genet Cytogenet Oncol Haematol. 2017;21(6):223-224.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;7)(p36;p12) IKZF1/PRDM16

External links

Mitelman databaset(1;7)(p36;p12)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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