NDLI: Genetic loss of SH2B3 in acute lymphoblastic leukemia

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Genetic loss of SH2B3 in acute lymphoblastic leukemia

Content Provider	Scilit
Author	Perez-Garcia, Arianne Ambesi-Impiombato, Alberto Hadler, Michael Rigo, Isaura LeDuc, Charles A. Kelly, Kara Jalas, Chaim Paietta, Elisabeth Racevskis, Janis Rowe, Jacob M. Tallman, Martin S. Paganin, Maddalena Basso, Giuseppe Tong, Wei Chung, Wendy K. Ferrando, Adolfo A.
Copyright Year	2013
Description	The SH2B adaptor protein 3 (SH2B3) gene encodes a negative regulator of cytokine signaling with a critical role in the homeostasis of hematopoietic stem cells and lymphoid progenitors. Here, we report the identification of germline homozygous SH2B3 mutations in 2 siblings affected with developmental delay and autoimmunity, one in whom B-precursor acute lymphoblastic leukemia (ALL) developed. Mechanistically, loss of SH2B3 increases Janus kinase-signal transducer and activator of transcription signaling, promotes lymphoid cell proliferation, and accelerates leukemia development in a mouse model of NOTCH1-induced ALL. Moreover, extended mutation analysis showed homozygous somatic mutations in SH2B3 in 2 of 167 ALLs analyzed. Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis. Key Points SH2B3 is a recessive tumor suppressor gene with germline and somatic mutations in ALL.
Related Links	http://www.bloodjournal.org/content/bloodjournal/122/14/2425.full.pdf
Ending Page	2432
Page Count	8
Starting Page	2425
DOI	10.1182/blood-2013-05-500850
Journal	Blood
Issue Number	14
Volume Number	122
Language	English
Publisher	American Society of Hematology
Publisher Date	2013-10-03
Access Restriction	Open
Subject Keyword	Hematology Germline Somatic Sh2b3 Hematopoietic Protein Model Leukemia Suppressor Lymphoblastic Homozygous Journal: Blood (Vol- 124, Issue- 14)
Content Type	Text
Resource Type	Article

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