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t(5;14)(q33;q32) PDGFRB::CCDC88C

Written2006-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1379

Clinics and Pathology

Disease Atypical chronic myeloid leukemia (a-CML)
Epidemiology Only one case to date with ascertainment of the genes involved (another case was a 18 yr old female patient with a M2 acute myeloid leukemia (AML) and a t(7;11)(p15;p15); the t(5; 14) appeared at relapse, 5 mths before death, 27 mths after diagnosis).
Clinics The sole case of t(5;14)(q33;q32) with certain PDGFRB/KIAA1509 involvement was a 42 yr old male patient, BCR-ABL negative, treatad with imatinib, and maintained in complete remission 18 mths after diagnosis.

Genes involved and Proteins

Gene NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); Ig like, transmembrane and tyrosine kinase domains; membrane tyrosine kinase; can homodimerize
Gene NameCCDC88C (coiled-coil domain containing 88C)
Location 14q32.11
Protein poorly known; 1935 amino acids; possess a coiled coil domain.

Result of the chromosomal anomaly

Hybrid gene
Description 5' KIAA1509-3' PDGFRB; breakpoint in PDGFRB intron 10, identical to most PDGFRB breakpoints
Fusion Protein
Description 934 amino acids composed of the 355 amino acids from KIAA1506 in N-term and 579 amino acids from PDGFRB C-term
Oncogenesis the coiled coil domain may mediate PDGFRB homodimerization and constitutive activation

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.


Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5.
Abe A, Tanimoto M, Towatari M, Matsuoka A, Kitaori K, Kato H, Toyozumi H, Takeo T, Adachi K, Emi N
Cancer genetics and cytogenetics. 1995 ; 83 (1) : 37-41.
PMID 7656202
KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).
Levine RL, Wadleigh M, Sternberg DW, Wlodarska I, Galinsky I, Stone RM, DeAngelo DJ, Gilliland DG, Cools J
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (1) : 27-30.
PMID 15496975


This paper should be referenced as such :
Huret, JL
t(5;14)(q33;q32) PDGFRB/KIAA1509
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):188-188.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;14)(q33;q32) PDGFRB/CCDC88C

External links

Mitelman databaset(5;14)(q33;q32)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9966/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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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indexed on : Fri Oct 8 16:36:40 CEST 2021

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