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

2006-02-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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 (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
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 (coiled-coil domain containing 88C)
Location
14q32.11
Protein description
poorly known; 1935 amino acids; possess a coiled coil domain.

Result of the Chromosomal Anomaly

Description

5 KIAA1509-3 PDGFRB; breakpoint in PDGFRB intron 10, identical to most PDGFRB breakpoints934 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

Article Bibliography

Pubmed IDLast YearTitleAuthors
76562021995Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5.Abe A et al
154969752005KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).Levine RL et al

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2006-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1379/t(5;14)(q33;q32)