SH2B3 Gene Deletion

MedGen UID:: 1656540
•Concept ID:: C4744670
•: Cell or Molecular Dysfunction

Synonyms:

LNK Gene Deletion; SH2B Adaptor Protein 3 Gene Deletion; SH2B3 Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the SH2B3 gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSH2B3 Gene Deletion

Molecular Abnormality
- Cytogenetic Abnormality
  - Chromosome 12 Abnormality
    - SH2B3 Gene Deletion

Recent clinical studies

Etiology

Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21.

Capela de Matos RR, Othman M, Ferreira GM, Monteso K, de Souza MT, Rouxinol M, Melo JB, Carreira IM, Abdelhay E, Liehr T, Ribeiro RC, Silva M
Cancer Genet 2022 Apr;262-263:16-22. Epub 2021 Dec 22 doi: 10.1016/j.cancergen.2021.12.003. PMID: 34974289

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.

Bagla S, Regling KA, Wakeling EN, Gadgeel M, Buck S, Zaidi AU, Flore LA, Chicka M, Schiffer CA, Chitlur MB, Ravindranath Y
Pediatr Hematol Oncol 2021 Feb;38(1):65-79. Epub 2020 Sep 29 doi: 10.1080/08880018.2020.1814463. PMID: 32990483

Co-existence of IL7R high and SH2B3 low expression distinguishes a novel high-risk acute lymphoblastic leukemia with Ikaros dysfunction.

Ge Z, Gu Y, Xiao L, Han Q, Li J, Chen B, Yu J, Kawasawa YI, Payne KJ, Dovat S, Song C
Oncotarget 2016 Jul 19;7(29):46014-46027. doi: 10.18632/oncotarget.10014. PMID: 27322554 Free PMC Article

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

Ivanov Öfverholm I, Tran AN, Olsson L, Zachariadis V, Heyman M, Rudd E, Syk Lundberg E, Nordenskjöld M, Johansson B, Nordgren A, Barbany G
Leuk Lymphoma 2016 Sep;57(9):2161-70. Epub 2016 Apr 19 doi: 10.3109/10428194.2015.1136740. PMID: 27090575

Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.

Roberts KG, Morin RD, Zhang J, Hirst M, Zhao Y, Su X, Chen SC, Payne-Turner D, Churchman ML, Harvey RC, Chen X, Kasap C, Yan C, Becksfort J, Finney RP, Teachey DT, Maude SL, Tse K, Moore R, Jones S, Mungall K, Birol I, Edmonson MN, Hu Y, Buetow KE, Chen IM, Carroll WL, Wei L, Ma J, Kleppe M, Levine RL, Garcia-Manero G, Larsen E, Shah NP, Devidas M, Reaman G, Smith M, Paugh SW, Evans WE, Grupp SA, Jeha S, Pui CH, Gerhard DS, Downing JR, Willman CL, Loh M, Hunger SP, Marra MA, Mullighan CG
Cancer Cell 2012 Aug 14;22(2):153-66. doi: 10.1016/j.ccr.2012.06.005. PMID: 22897847 Free PMC Article

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Diagnosis

Telomere length and its correlation with gene mutations in chronic lymphocytic leukemia in a Korean population.

Song DY, Kim JA, Jeong D, Yun J, Kim SM, Lim K, Park SN, Im K, Choi S, Yoon SS, Lee DS
PLoS One 2019;14(7):e0220177. Epub 2019 Jul 23 doi: 10.1371/journal.pone.0220177. PMID: 31335885 Free PMC Article

See all (1)

Therapy

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

See all (1)

Prognosis

Telomere length and its correlation with gene mutations in chronic lymphocytic leukemia in a Korean population.

CDKN2B downregulation and other genetic characteristics in T-acute lymphoblastic leukemia.

Jang W, Park J, Kwon A, Choi H, Kim J, Lee GD, Han E, Jekarl DW, Chae H, Han K, Yoon JH, Lee S, Chung NG, Cho B, Kim M, Kim Y
Exp Mol Med 2019 Jan 11;51(1):1-15. doi: 10.1038/s12276-018-0195-x. PMID: 30635552 Free PMC Article

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

See all (4)