Ph-like acute lymphoblastic leukemia with a novel PAX5-KIDINS220 fusion transcript

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• 作者：Kenichi Sakamoto ; Toshihiko Imamura ; Takuyo Kanayama ; Mio Yano ; Daisuke Asai ; Takao Deguchi ; Yoshiko Hashii ; Akihiko Tanizawa ; Yusei Ohshima ; Nobutaka Kiyokawa ; Keizo Horibe and Atsushi Sato
• 刊名：Genes, Chromosomes and Cancer
• 出版年：2017
• 出版时间：April 2017
• 年：2017
• 卷：56
• 期：4
• 页码：278-284
• 全文大小：293K
• ISSN：1098-2264

文摘

Although “paired box 5” (PAX5)-related fusion genes are well documented in childhood B-cell precursor acute lymphoblastic leukemia (ALL), these types of fusion with the exception of PAX5-JAK2 are rarely seen in patients with gene expression profiles similar to those of BCR-ABL1 (Philadelphia)-positive ALL (Ph-like ALL). We report a novel fusion of the genes PAX5 and “kinase D-interacting substrate of 220 kDa” (KIDINS220, also known as ARMS) in a Ph-like ALL. As PAX5 is a master regulator of B-lymphocyte differentiation, PAX5 rearrangements induce a differentiation block in B lymphocytes. KIDINS220 is a mediator of multiple receptor signaling pathways, interacts with both T- and B-cell receptors, and is necessary for sustained extracellular signal-regulated kinase (ERK) signaling. Although functional studies are needed, the PAX5-KIDINS220 fusion protein might not only inhibit wild-type PAX5 function, but also promote sustained activation of the ERK signaling pathway through upregulation of KIDINS220.