Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia

CG Mullighan, JR Collins-Underwood, LAA Phillips… - Nature …, 2009 - nature.com
CG Mullighan, JR Collins-Underwood, LAA Phillips, MG Loudin, W Liu, J Zhang, J Ma…
Nature genetics, 2009nature.com
Aneuploidy and translocations are hallmarks of B-progenitor acute lymphoblastic leukemia
(ALL), but many individuals with this cancer lack recurring chromosomal alterations. Here
we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes
X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the
coding region of CRLF2. We identified the P2RY8-CRLF2 fusion in 7% of individuals with B-
progenitor ALL and 53% of individuals with ALL associated with Down syndrome. CRLF2 …
Abstract
Aneuploidy and translocations are hallmarks of B-progenitor acute lymphoblastic leukemia (ALL), but many individuals with this cancer lack recurring chromosomal alterations. Here we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the coding region of CRLF2. We identified the P2RY8-CRLF2 fusion in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. CRLF2 alteration was associated with activating JAK mutations, and expression of human P2RY8-CRLF2 together with mutated mouse Jak2 resulted in constitutive Jak-Stat activation and cytokine-independent growth of Ba/F3 cells overexpressing interleukin-7 receptor alpha. Our findings indicate that these two genetic lesions together contribute to leukemogenesis in B-progenitor ALL.
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