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t(1;14)(q21;q32) MUC1/IGH

Written2005-01Jacques Boyer
Laboratoire d' hématologie, CH du MANS, France

(Note : for Links provided by Atlas : click)


Atlas_Id 1342

Clinics and Pathology

Note The chromosomal band 1q21 is the third most frequent site of rearrangement in non-Hodgkin's lymphoma after 14q32 and 18q21.
Five genes mapped to this region (BCL9, MUC1, FCGR2B, MUM2, API2) some have been shown to be deregulated by juxtaposition with the IgH genes.
Disease B-cell non Hodgkin Lymphoma (NHL)
Epidemiology The MUC1 region is rearranged in 6% of tumors with 1q21 cytogenetic aberration.
Cytology No clear association with a particular NHL subtype has been reported.
Prognosis Poor prognosis especially in diffuse large cell lymphoma.
May be associated with tumor progression.


Cytogenetics Morphological A number of 1q21 abnormalities result in an unbalanced chromosome 1 translocation.
Additional anomalies Caryotype often complex.
Usually detected with t(14;18)(q32;q21) and t(8;14)(q24;q32) as a secondary chromosomal abnormalitie.

Genes involved and Proteins

Gene NameMUC1 (mucin 1, cell surface associated)
Location 1q22
Note Located 8cM telomeric to BCL9; aliases of MUC1 are EMA and CD227.
Dna / Rna 3.88 kb, 8 exons, 1721 bp, 2 transcripts.
Protein 122.1 kDa (1255 aa) Highly glycosylated protein.
The MUC1 protein can be expressed as a transmembrane or secreted protein.
May be playing a role in adhesive functions and in cell-cell interactions, metastasis, signaling and is implicated in some adenocarcinomas.
The EMA wich is equivalent to MUC1 occurs in lymphocyte-predominant Hodgkin's disease, plasmocytomas and T-cell lymphomas due to mechanisms other than 1q21 rearrangement.
Gene NameIGH (Immunoglobulin Heavy)
Location 14q32.33

Result of the chromosomal anomaly

Hybrid gene
Description The translocation links sequences 2.4 kpb 3' of the MUC1 gene on chromosome 1 to the IGH4 switch region on chromosome 14. MUC1 gene is intact. The MUC1 gene is brought into proximity with the C gamma 4 and C alpha 2 loci. Downstream of C alpha 2 is an enhancer element implicated in the activation of MUC1 expression.
Fusion Protein
Description No fusion protein.
Oncogenesis Chromosomal translocation involving class switch recombination when DNA strand breaks are introduced into the switch regions of recombining CH genes. Activation of MUC1 translation and transcription. An important role for MUC1 in tumorigenesis has been demontrated in Muc-1 null mice. MUC1 is associated with delayed progression of the tumor (selective advantage, inhibition of cell adhesion).
In addition to activation of MUC1, haploid loss of chromosome 1 long arm also contributes to oncogenesis in some tumors.


MUC1 is activated in a B-cell lymphoma by the t(1;14)(q21;q32) translocation and is rearranged and amplified in B-cell lymphoma subsets.
Dyomin VG, Palanisamy N, Lloyd KO, Dyomina K, Jhanwar SC, Houldsworth J, Chaganti RS
Blood. 2000 ; 95 (8) : 2666-2671.
PMID 10753849
MUC1 dysregulation as the consequence of a t(1;14)(q21;q32) translocation in an extranodal lymphoma.
Gilles F, Goy A, Remache Y, Shue P, Zelenetz AD
Blood. 2000 ; 95 (9) : 2930-2936.
PMID 10779441
Non-Hodgkin's Lymphoma: Molecular Features of B Cell Lymphoma.
Macintyre E, Willerford D, Morris SW
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2000 : 180-204.
PMID 11701542


This paper should be referenced as such :
Boyer, J
t(1;14)(q21;q32) MUC1/IGH
Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):30-31.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;14)(q21;q32) MUC1/IGH

External links

Mitelman databaset(1;14)(q21;q32) [Case List]    t(1;14)(q21;q32) [Transloc-MCList] MUC1/IGH [Fusion-MCList]
arrayMap (UZH-SIB Zurich)[select an item]
REVIEW articlesautomatic search in PubMed
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