t(1;22)(p36;q11) IGL/PRDM16

2016-09-01   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;22)(p36;q11) IGL/PRDM16 translocations, with data on clinics, and the genes involved.

Clinics and Pathology


Only one case to date: a 68-years old male patient, who died 38 months after diagnosis (Duhoux et al., 2012).

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).
Gene name
IGL (Immunoglobulin Lambda)

Result of the Chromosomal Anomaly


IGL may act as an enhancer of PRDM16.


Pubmed IDLast YearTitleAuthors
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


Fusion gene



Jean-Loup Huret

t(1;22)(p36;q11) IGL/PRDM16

Atlas Genet Cytogenet Oncol Haematol. 2016-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1674/t(1;22)(p36;q11)

External Links