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t(8;12)(q24;p12) LRMP/MYC

Written2013-03Rashmi R Singh, Susana Ben-Neriah, Nathalie N Johnson, Joseph M Connors, Randy D Gascoyne, Douglas E Horsman
Center for Lymphoid Cancer, British Columbia Cancer Agency, 600 West 10th Avenue, Vancouver, BC, V5Z 4E6 Canada

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1618
Note This is a novel translocation in a single case involving chromosomal band 12p12 and MYC on 8q24.
 
  The G-banding karyotype analysis of this case revealed t(8;12)(q24;?p11),+der(12)t(8;12) in addition to the t(14;18)(q32;q24). Further, metaphase FISH analysis (Left) using the commercial MYC dual color break apart probe revealed a fused yellow signal on chromosome 8 indicating a normal copy, a red signal on derivative 8 and two derivative 12 chromosomes carrying the telomeric portion of MYC labeled in Spectrum Green. The Interphase cells (Right) also revealed a 1F1R2G pattern in 100% of the cells that were scored.

Clinics and Pathology

Disease Double-hit lymphoma
Phenotype / cell stem origin B-cell lymphoma.
Epidemiology Rare translocation first described in a B-cell lymphoma cell line by Tedoldi et al. 2006.
Clinics Unknown.
Prognosis Unknown.

Genetics

In the study by Tedoldi et al., Jaw1/LRMP was found in three-quarters (24/32) of the diffuse large B-cell lymphoma (DLBCL) cases classified phenotypically as being of 'germinal centre' type and also expressed in almost half (13/28) of the 'non-germinal centre' cases.

Cytogenetics

Cytogenetics Morphological The conventional karyotype analysis revealed 47,X,add(X)(p22), del(1)(p36.3), t(8;12)(q24;p12.1),+der(12)t(8;12), t(14;18)(q32;q21) [7]/46, XX [1].
Cytogenetics Molecular A. Fosmid dual color break apart probes spanning the LRMP gene on 12p12 shows a similar break apart pattern as commercial MYC probe.
B. Molecular fusion of the fosmid probes spanning the LRMP gene observed with MYC on 8q24.
C. FISH analysis for mapping translocation breakpoints on MYC revealed a mono allelic deletion of the BAC clone RP11-125A17 (PVT1 locus) with 1Y1R pattern in 100% of metaphase and interphase cells analyzed.
 
  A. FISH image depicts fosmid dual color break apart probe created by the combination of G248P87899B1 (WI2-3266N3) (labeled in green) and G248P89329G2 (WI2-1668D2) (labeled in red) from 12p12.1 shows a similar break apart signal pattern as MYC dual color breakapart probe (shown above) in a metaphase and interphase cells. B. FISH image depicts fusion of fosmid probes G248P87899B1/G248P89329G2 (labeled in red) spanning the LRMP gene on 12p12.1 with "in house" MYC probe (RP11-440N18/RP11-125A17) (labeled in green) on 8q24. C. FISH analysis using "in-house" BAC probes for mapping breakpoints on MYC [RP11-440N18 (Sp. R.) and RP11-125A17 (Sp.G.)] revealed mono allelic deletion of RP11-125A17 (Sp. G.).
Probes G248P87899B1 (WI2-3266N3) (labeled in green) and G248P89329G2 (WI2-1668D2) (labeled in red) for LRMP gene on chromosomal locus 12p12.1 and RP11-440N18 and RP11-125A17 for MYC gene on 8q24. Probes provided by Dr Wan Lam, BC Cancer Agency.
Variants Not known.

Genes involved and Proteins

Gene Name MYC
Location 8q24.21
 
  Location base pair starts at 128748315 and ends at 128753680 bp from pter (according to hg19-Feb_2009).
Dna / Rna Transcription: alternative splicing; coding sequences: 1318 and 1362 bp for proteins p64 and p67 respectively.
Protein 439 amino acids and 48 kDa in the p64; 454 amino acids in the p67 (15 additional amino acids in N-term to C-term: a transactivation domain, an acidic domain, a nuclear localization signal, a basic domain, an helix-loop-helix motif, and a leucine zipper; DNA binding protein.
Gene Name LRMP
Location 12p12.1
Note Other name Jaw1.
This is the first known chromosomal translocation in a B-cell lymphoma involving LRMP gene with MYC on 8q24.
Dna / Rna Size: 87334 bases.
Location base pair of fosmids used for the breakpoint analysis of the gene:
G248P89329G2 starts at 25155029 and ends at 25191825,
G248P87899FB1 starts at 25237532 and ends at 25280488.
Protein Size: 555 amino acids; 62122 Da.

Result of the chromosomal anomaly

Hybrid gene
Description Fusion of LRMP/Jaw1 observed with MYC on 8q24. Refer to Figure B (see above in the section of image molecular).
  

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.

Bibliography

Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas.
Bertrand P, Bastard C, Maingonnat C, Jardin F, Maisonneuve C, Courel MN, Ruminy P, Picquenot JM, Tilly H.
Leukemia. 2007 Mar;21(3):515-23. Epub 2007 Jan 18.
PMID 17230227
 
Identification of a novel non-immunoglobulin/MYC translocation t(8;12)(q24;p12) involving the LRMP gene in a primary B-cell lymphoma. A case report.
Singh RR, Ben-Neriah S, Johnson NN, Connors JM, Gascoyne RD, Horsman DE.
Leuk Res. 2012 Jan;36(1):e22-4. doi: 10.1016/j.leukres.2011.09.020. Epub 2011 Oct 11.
PMID 21996557
 
Jaw1/LRMP, a germinal centre-associated marker for the immunohistological study of B-cell lymphomas.
Tedoldi S, Paterson JC, Cordell J, Tan SY, Jones M, Manek S, Dei Tos AP, Roberton H, Masir N, Natkunam Y, Pileri SA, Facchetti F, Hansmann ML, Mason DY, Marafioti T.
J Pathol. 2006 Aug;209(4):454-63.
PMID 16739114
 

Citation

This paper should be referenced as such :
Singh, RR ; Ben-Neriah, S ; Johnson, NN ; Connors, JM ; Gascoyne, RD ; Horsman, DE
t(8;12)(q24;p12) LRMP/MYC
Atlas Genet Cytogenet Oncol Haematol. 2013;17(8):568-570.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0812q24p12ID1618.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(8;12)(q24;p12) LRMP/MYC

External links

arrayMap (UZH-SIB Zurich)LRMP (12p12.1) MYC (8q24.21)

Mitelman databaset(8;12)(q24;p12) [Case List]    t(8;12)(q24;p12) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseLRMP/MYC [MCList]  LRMP (12p12.1) MYC (8q24.21)
 
Disease databaset(8;12)(q24;p12) LRMP/MYC
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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