t(5;10)(q33;q21) CCDC6/PDGFRB
2001-01-01 Cristina Mecucci Affiliation1.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
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31327842 | 2019 | Myeloid/Lymphoid Neoplasm with PDGFRB Rearrangement with t (5;10) (q33;q22) Harboring a Novel Breakpoint of the CCDC6-PDGFRB Fusion Gene. | 21 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10910073 | 2000 | Fusion 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 |
| 10190953 | 1999 | New 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)-ccdc6-pdgfrb
