Preferred Label : PCM1/JAK2 Fusion Gene;
NCIt synonyms : PCM1-JAK2 Fusion Gene; PCM1::JAK2 Fusion Gene;
NCIt definition : A fusion gene that results from a chromosomal translocation t(8;9)(p22;p24.1) which
fuses most of the PCM1 gene to the upstream side of the exons of the JAK2 gene encoding
the tyrosine kinase domain. This fusion is associated with myeloproliferative disorders
and some rare myeloid and lymphoid neoplastic diseases.;
NCIt note : The reciprocal fusion may also be expressed. (Atlas of Genetics and Cytogenetics in
Oncology and Haematology); The breakpoints for this fusion gene are highly variable. The reported breakpoints
for the PCM1 gene include exons 23, 24, 25, 26, 28, 29, 36 and 38, and intron 36;
while the reported breakpoints for the JAK2 gene include exon 1, 7, 9, 10 and 15.
(Cancer Res. 2005; 65:2662-7 and Leukemia. 2005; 19:1692-6.);
NCI Metathesaurus CUI : CL512881;
Origin ID : C129855;
UMLS CUI : C4330911;
Semantic type(s)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_involved_in_molecular_abnormality
- gene_involved_in_pathogenesis_of_disease
- gene_mapped_to_disease
- related_to_genetic_biomarker
