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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 Name PDGFRB
Location 5q33
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 Name CCDC88C
Location 14q32
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) [Case List]    t(5;14)(q33;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaset(5;14)(q33;q32) PDGFRB/CCDC88C
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Jun 30 11:23:14 CEST 2017

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