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t(4;9)(q21.22;p24) SEC31A::JAK2

Written2017-04Julie Sanford Biggerstaff
Idaho Cytogenetics Diagnostic Laboratory, Boise, ID 83706, USA;

Abstract Review on t(4;9)(q21.22;p24) SEC31A/JAK2, with data on clinics, and the genes involved.

Keywords Chromosome 4; chromosome 9; translocation; SEC31A; JAK2; Hodgkin Lymphoma

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9650/3 Classical Hodgkin lymphoma
Atlas_Id 1682

Clinics and Pathology

Disease Hodgkin Lymphoma
Phenotype / cell stem origin Hodgkin and Reed-Sternberg cells, which derive from pre-apoptotic crippled germinal center (GC) B-cells, are positive for CD30, CD15, CD40 and IRF4/MUM1
Epidemiology Hodgkin lymphoma itself is common, but this particular translocation may be rare within the disorder. However, it is not often assayed for; found in 2/131 cHL cases examined: a M/31 with nodular sclerosis cHL, alive 60 mths after diagnosis; and a M/83 with lymphocyte-depleted cHL who died at day 14 (Van Roosbroeck et al, 2011).
Treatment SEC31A/JAK2 acts as a constitutively activated tyrosine kinase and is sensitive to JAK2 inhibition
Prognosis Yet unknown.


Cytogenetics Morphological JAK2 breakapart (commonly available).

Genes involved and Proteins

Gene NameSEC31A (SEC31 homolog A, COPII coat complex component)
Location 4q21.22
Dna / Rna gene is 72,606 bp with 25 exons; transcribed from the - strand; coding region is 62,863 bp with 24 exons
Protein 1166 amnio acids. Protein transport protein SEC31A is ubiquitously expressed and forms part of the coat protein complex II (COPII) which is comprised of at least four other proteins in addition to SEC31A this complex is involved in formation of transport vesicles from the ER to Golgi. Protein localized to the cytoplasmic side of the cell membrane and is GTP-dependent.
Gene NameJAK2 (janus kinase 2)
Location 9p24.1
Dna / Rna 143,098 bp with 24 exons; transcribed from the + strand; coding region is 104,804 bp with 23 exons.
Protein Protein is 1132 amino acids with multiple functional domains; regulated by auto-phosphorylation. Non-receptor protein tyrosine kinase, ubiquitously expressed.
Germinal mutations Germline mutations associated with autosomal dominant Familial Thrombocythemia
Somatic mutations 'Gain of Function' V617F mutation and mutations in exon 12 of the gene common in patients with Polycythemia Vera, Myelofibrosis with Myeloid Metaplasia or idiopathic erythrocytosis.

Result of the chromosomal anomaly

Hybrid gene
Note Fusion results in 5' SEC31A fused to 3' partner gene JAK2
Description Exon 22 SEC31A is fused with exon 17 of JAK2 in the two reported cases (Van Roosbroeck et al, 2011)
Detection FISH using JAK2 and SEC31A breakapart probes, rtPCR or RNAseq.
Fusion Protein
Oncogenesis The fusion protein is a constitutively activated tyrosine kinase: JAK2 activation is mediated by a domain region of SEC31A that lies between the WD-40-like and proline-rich domains of the protein (Van Roosbroeck et al, 2011).

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.


Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport.
Tang BL, Zhang T, Low DY, Wong ET, Horstmann H, Hong W.
J Biol Chem. 2000 May 5;275(18):13597-604.
PMID 10788476
JAK2 Rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma
Van Roosbroeck K, Cox L, Tousseyn T, Lahortiga I, Gielen O, Cauwelier B, De Paepe P, Verhoef G, Marynen P, Vandenberghe P, De Wolf-Peeters C, Cools J, Wlodarska I
Blood. 2011 Apr 14; 117(15):4056-64.
PMID 21325169


This paper should be referenced as such :
Julie Sanford Biggerstaff
t(4;9)(q21.22;p24) SEC31A/JAK2
Atlas Genet Cytogenet Oncol Haematol. 2018;22(5):216-217.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(4;9)(q21;p24) SEC31A/JAK2

External links

Mitelman databaset(4;9)(q21;p24)
arrayMap (UZH-SIB Zurich)Morph ( 9650/3) -   [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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