t(5;10)(q33;q21) CCDC6/PDGFRB

2001-01-01   Cristina Mecucci 

1.Hematology, Policlinico Monteluce, Via Brunamonti, 06123 Perugia, Italy

Clinics and Pathology

Disease

myeloid lineage

Phenotype stem cell origin

atypical chronic myeloid leukemia (CML), Philadelphia negative, bcr-abl negative with eosinophilia

Epidemiology

only two cases available

Clinics

massive splenomegaly in one case; some clinical features of accelerated CML

Cytology

peripheral blood leukoerythroblastosis; bone marrow granulocytic hyperplasia, bone marrow fibrosis (grade III-IV reticulin), dry tap

Pathology

extramedullary hemopoiesis in the spleen

Treatment

control of disease by hydroxyurea in both cases

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Protein description
transmembrane and tyrosine kinase domains
Gene name
CCDC6 (coiled-coil domain containing 6)
Location
10q21.2
Protein description
carboxyterminal putative SH3 binding site; cytoskeletal protein?

Result of the Chromosomal Anomaly

Transcript

H4-PDGFBR chimeric RNA constantly present

Bibliography

Pubmed IDLast YearTitleAuthors
109100732000Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21).Kulkarni S et al
101909531999New reciprocal translocation t(5;10)(q33;q22) associated with atypical chronic myeloid leukemia.Siena S et al

Citation

Cristina Mecucci

t(5;10)(q33;q21) CCDC6/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 2001-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1166/t(5;10)(q33;q21)

External Links