1,190
edits
Changes
no edit summary
[[Category:Translocations in B-ALL]]
[[Category:Translocations]]
[[Category:IGH Translocations]]
[[Category:Translocations Chromosome 14]]
[[Category:Translocations Chromosome 19]]
[[Category:Structural Changes Chromosome 14]]
[[Category:Structural Changes Chromosome 19]]
[[Category:Cryptic]]
[[Category:Recently Added Pages]]
__TOC__
==Contributors==
[[Member Directory|Scott Newman PhD]]
==Diseases==
B-ALL; probably specific to the Phildelphia-like subgroup
==Rearrangement Variants==
Iacobucci et al. (2016) identified four types of EPOR rearrangement in the Phildelphia-like subgroup of B-ALL<ref>Iacobucci I, Li Y, Roberts KG, Dobson SM, Kim JC, Payne-Turner D, Harvey RC, Valentine M, McCastlain K, Easton J, Yergeau D, Janke LJ, Shao Y, Chen IM, Rusch M, Zandi S, Kornblau SM, Konopleva M, Jabbour E, Paietta EM, Rowe JM, Pui CH, Gastier-Foster J, Gu Z, Reshmi S, Loh ML, Racevskis J, Tallman MS, Wiernik PH, Litzow MR, Willman CL, McPherson JD, Downing JR, Zhang J, Dick JE, Hunger SP, Mullighan CG.
Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia.
Cancer Cell. 2016 Feb 8;29(2):186-200. [http://www.ncbi.nlm.nih.gov/pubmed/26859458 PMID:26859458]</ref>: :
# Insertion of the EPOR locus distal to the immunoglobulin heavy chain (IGH) locus enhancer
#Insertion of EPOR into the immunoglobulin kappa chain (IGK)
# Reciprocal t(14;19)(q32;p13) rearrangement of IGH to EPOR
# Intrachromosomal inversion of chromosome 19 that juxtaposes EPOR to the up-stream region of LAIR1 (leukocyte-associated immunoglobulin-like receptor 1) at chromosome 19q13
==Co-occurring Lesions==
EPOR rearrangements are frequently found in conjunction with [[IKZF1]] deletions and [[PAX5]] deletions within the Ph-like subgroup of ALL.
==References==