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t(9;14)(p24;q12) STRN3::JAK2

Written2019-10Jean Loup Huret

Abstract Review on t(9;14)(p24;q12), with data on clinics, and the genes involved.

Keywords Chromosome 9; Chromosome 14; STRN3; JAK2

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1683

Clinics and Pathology

Disease Acute lymphoblastic leukemia (ALL).
Epidemiology Only 1 case to date, a 12 year-old female patient with high-risk B-lineage ALL (Roberts et al., 2012).

Genes involved and Proteins

Note There was a IKZF1 deletion and p.Leu117fs (Frame shift) mutation.
Gene NameJAK2 (janus kinase 2)
Location 9p24.1
Protein 1132 amino acids (aa); 130,7 kDa; JAK2 contains an Interaction with cytokine/interferon/growth hormone receptors region (aa 1-239), a FERM domain: (aa 37-380), a central Src homology 2 (SH2) domain (aa 401-482), and two C-terminal domains: a tyrosine kinase domain JH1 (also termed PTK or TyrKc domain (aa 545-809)), and a tyrosine kinase-like domain JH2 (also termed STYKc (aa 849-1124)). JAK Homology domains are the following: JH7 aa 25-137; JH6: aa 144-284; JH5: aa 288-309; JH4: aa 322-440; JH3: aa 451-538; JH2: aa 543-824; JH1: aa 836-1123.
JAK2 is a member of the Janus kinase (JAKs) family of non-receptor protein tyrosine kinases ( JAK1, JAK2, JAK3, TYK2) .Janus kinases are protein tyrosine kinases of the non-receptor type that associates with the intracellular domains of cytokine receptors including the receptors for interleukins, interferons, growth hormone, erythropoietin, and leptin. Mediates signaling transduction. Janus kinases are constitutively bound to the cytoplasmic region of cytokine receptors. Binding of cytokines induces cytokine receptor dimerization, facilitating trans-phosphorylation of the associated JAKs and JAK/STAT signaling. Erythropoietin receptor (EPOR) and growth hormone receptor (GHR) bind JAK2 exclusively.
JAK2 is frequently mutated in myeloproliferative disorders. JAK2-V617F mutation occurs at the stem cell level and is present in hematopoietic stem cell progenitors (Strehl et al., 2006; Gangat and Tefferi, 2008; Hubbard, 2017).
Gene NameSTRN3 (striatin 3)
Location 14q12
Protein 797 amino acids (aa), contains caveolin-binding and calmodulin-binding regions in the N-term (aa 71-79 and 166-183 respectively), a coiled-coil domain (aa 77-136, which allow homo- and hetero-oligomerization), and 6 WD repeats (from aa 478 to aa 796; WD-repeat domain enables proteins to establish multiple protein-protein interactions). STRN3 is a member of striatin family ( STRN, STRN3, STRN4) which function as scaffold in different signal transduction pathways STRN and STRN3 are the constituents of a multiprotein assembly called striatin-interacting phosphatase and kinase (STRIPAK). STRIPAK are regulators of cell cycle, differentiation, metabolism, immune regulation, Golgi assembly, cell polarity, cell migration, etc. STRN3 protects cells from oxidative stress. SG2NA is involved in maintaining ER homeostasis. Downregulation of SG2NA reduces the level of CCND1 (cyclin D1) and retains a population of cells in the G1 phase, and its overexpression extends G2 (Jain et al., 2017; Pandey et al., 2018).

Result of the chromosomal anomaly

Hybrid gene
Description STRN3 exon 9 was fused to JAK2 exon 17.
Fusion Protein
Description 835 amino acids. The N-term striatin domain was fused to the pseudo kinase domain and C-term Tyr kinase domain). Sequence junction: .ARAEEV_LQER....

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Problem-oriented article summary
Berry EM
Lancet 1985 Aug 24;2(8452):452
PMID 2863481
Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase
Hubbard SR
Front Endocrinol (Lausanne) 2018 Jan 5;8:361
PMID 29379470
Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.
Hubbard SR.
Front Endocrinol (Lausanne). 2018 Jan 5;8:361. doi: 10.3389/fendo.2017.00361. eCollection 2017. Review.
PMID 29379470
Strehl, S
JAK2 (janus kinase 2)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):3-6.
Gangat N, Tefferi A
JAK2 mutations in myeloproliferative neoplasms
Atlas Genet Cytogenet Oncol Haematol. 2009;13(8):612-617.
GSK3beta and ERK regulate the expression of 78kDa SG2NA and ectopic modulation of its level affects phases of cell cycle
Pandey S, Talukdar I, Jain BP, Tanti GK, Goswami SK
Sci Rep 2017 Aug 8;7(1):7555
PMID 28790387
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
PMID 22897847


This paper should be referenced as such :
Jean Loup Huret
t(9;14)(p24;q12) STRN3/JAK2
Atlas Genet Cytogenet Oncol Haematol. 2020;24(8):320-321.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;14)(p24;q12) STRN3/JAK2

External links

Mitelman databaset(9;14)(p24;q12)
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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