IGH-EPOR
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[1]: :
- 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.
- ↑ 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. PMID:26859458