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

Written2014-10Kenichiro Kobayashi
Department of Pediatric Hematology, Oncology Research, National Research Institute for Child Health and Development, 2-10-1 Okura Setagaya-ku Tokyo,157-8535 Japan;

Abstract 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.

Keywords Ph-like acute lymphoblastic leukemia, tyrosine kinase inhibitor (TKI), PDGFRB

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
Atlas_Id 1708

Clinics and Pathology

Disease Ph-like acute lymphoblastic leukemia
Clinics 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 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 al, 2014).
Prognosis 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.


Cytogenetics Morphological Banding cytogenetics revealed 45, XY, -7, add (12) (p13). The mRNA sequence analysis identified an in-frame transcript fusing exon 13 of ATF7IP with exon 11 of PDGFRB, i.e. t(5;12)(q33;p13).

Genes involved and Proteins

Gene NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein PDGFRB is a frequent target of chromosomal translocation in a broad spectrum of hematological malignancies.
Gene NameATF7IP (activating transcription factor 7 interacting protein)
Location 12p13.1
Protein 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

Hybrid gene
Description 5' ATF7IP-3' PDGFRB
Fusion Protein
Description Forced 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.

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.


TKI dasatinib monotherapy for a patient with Ph-like ALL bearing ATF7IP/PDGFRB translocation
Kobayashi K, Miyagawa N, Mitsui K, Matsuoka M, Kojima Y, Takahashi H, , Ootsubo K, Nagai J, Ueno H, Ishibashi T, Sultana S, Okada Y, Akimoto S, Okita H, Matsumoto K, Goto H , Kiyokawa N, Ohara A.
Pediatric Blood & Cancer. 2015 Jun;62(6):1058-60. doi: 10.1002/pbc.25327.
PMID 25400122


This paper should be referenced as such :
Kenichiro Kobayashi
t(5;12)(q33;p13) ATF7IP/PDGFRB
Atlas Genet Cytogenet Oncol Haematol. 2015;19(8):543-544.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q33;p13) ATF7IP/PDGFRB

External links

ATF7IP (12p13.1) PDGFRB (5q32)

ATF7IP (12p13.1) PDGFRB (5q32)

Mitelman databaset(5;12)(q33;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9966/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseATF7IP::PDGFRB [MCList]  ATF7IP (12p13.1) PDGFRB (5q32)
Mitelman databaseATF7IP::PDGFRB [MCList]  ATF7IP (12p13.1) PDGFRB (5q32)
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indexed on : Fri Oct 8 16:36:39 CEST 2021

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