t(5;12)(q33;p13) ATF7IP/PDGFRB

2014-10-01   Kenichiro Kobayashi 

1.Department of Pediatric Hematology, Oncology Research, National Research Institute for Child Health and Development, 2-10-1 Okura Setagaya-ku Tokyo,157-8535 Japan; kobayashi-kn@ncchd.go.jp


Ph-like ALL is characterized by several chromosomal translocations involving activating cytokine receptor or tyrosine kinase such as CRLF2, ABL1, JAK2, and PDGFRB (Robert K.G et al, 2014). Recent increasing evidences suggest that patients with Ph-like ALL bearing PDGFRB translocation are potentiated to respond to tyrosine kinase inhibitors. Thus, this translocation should be included within the molecular companion diagnostics to facilitate tailor-made cancer therapy.

Clinics and Pathology


Ph-like acute lymphoblastic leukemia


The patient is an 8-year-old male with B-ALL. Initial cytogenetics analysis showed a 45, XY, -7, add (12) (p13). RNA sequence analysis identified a novel translocation of ATF7IP/PDGFRB (Kobayashi K.et al, 2013). He showed good response to standard risk ALL therapy, but he relapsed even in the continuation of the maintenance chemotherapy at 26 months after the diagnosis. He received 3 course of salvage therapies following by stem cell transplantation. Second generation dasatinib was commenced with the minimum residual disease (MRD) at day 60 post-transplant. The therapeutic response was prompt, with the disappearance of genomic-PCR based on MRD within 3 months, and he has maintained complete molecular remission for 12 months (Kobayashi K.et al, 2014).


As was shown in Ph-like ALL bearing PDGFRB translocation, i.e. EBF1/PDGFRB, t(5;12)(q33;p13) ATF7IP/PDGFRB translocation seems response to TKI.


Atlas Image

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Protein description
PDGFRB is a frequent target of chromosomal translocation in a broad spectrum of hematological malignancies.
Gene name
ATF7IP (activating transcription factor 7 interacting protein)
Protein description
ATF7IP acts as transcriptional regulators and is frequently overexpressed in cancer cells modulating telomerase TERT and TERC gene expression (Liu, L. et al, 2009).

Result of the Chromosomal Anomaly


5 ATF7IP-3 PDGFRBForced expression of ATF7IP/PDGFRB, not wild-type PDGFRB, conferred growth factor independence to murine Ba/F3cells, indicating that coiled-coil domain from 5 ATF7IP- would favour subsequent constitutive activation of the PDGFRB tyrosine kinase domain.

Highly cited references

Pubmed IDYearTitleCitations
267038952016Ph-like ALL-related novel fusion kinase ATF7IP-PDGFRB exhibits high sensitivity to tyrosine kinase inhibitors in murine cells.5


Pubmed IDLast YearTitleAuthors
254001222015TKI dasatinib monotherapy for a patient with Ph-like ALL bearing ATF7IP/PDGFRB translocation.Kobayashi K et al


Fusion gene

ATF7IP/PDGFRB ATF7IP (12p13.1) PDGFRB (5q32) M|ATF7IP/PDGFRB ATF7IP (12p13.1) PDGFRB (5q32) M t(5;12)(q32;p13)


Kenichiro Kobayashi

t(5;12)(q33;p13) ATF7IP/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1708/t(5;12)(q33;p13)