Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(11;12)(p15;p13)
| Identity |
| Note | t(11;12)(p15;p13) should be the recurrent translocation; however, the only known case was in fact a variant/complex t(11;21;12)(p15;p13;p13) |
| Clinics and Pathology |
| Disease | Acute megakaryoblastic leukemia (AML -M7) |
| Epidemiology | So far only 1 case known, an infant case. However, the translocation might be missed using conventional banding techniques, and therefore additional cases might exist. |
| Prognosis | Remains in complete remission for at least 5 years |
| Cytogenetics |
| Cytogenetics Morphological | Not visible with conventional banding techniques alone: misdiagnosed as add(11)(p15) and der(21)(t(11;21)(p15;p13). Chromosome 12 was cytogenetically normal by conventional banding techniques and only identified as a partner in this translocation after FISH. |
| Variants | t(11;21;12)(p15;p13;p13). A t(11;12)(p15;p13), resulting in the same fusion product, might also exist, but none have been identified so far. |
| Genes involved and Proteins |
| Gene Name | NUP98 |
| Location | 11p15 |
| Protein | 920 amino acids; 97 kDa; contains repeated motifs (GLFG and FG) in N-term and a RNA binding motif in C-term |
| Gene Name | JARID1A |
| Location | 12p13 |
| Protein | 1722 amino acids; 196 kD; retinoblastoma binding protein 2 |
| Result of the chromosomal anomaly |
| Description | In-frame fusion of the first 13 exons of NUP98 to exons 28-31 of JARID1A |
| Transcript | 5' NUP98- 3' JARID1A |
| Detection | FISH: BAC clones RP11-348A20 (NUP98) and RP11-283I3 (spanning JARID1A exon 11-31) colocalize. |
 | |
| Schematic representation of the fusion NUP98-JARID1A. From up to down: NUP98, JARID1A and the putative chimeric NUP98-JARID1A structure. FG-repeats, phenylalanine-glycine repeats; JMJ, Jumonji domains; ARID, AT-rich interaction domain; PHD, plant homeodomain fingers or LAP domains. The arrow indicates the position of the fusion. | |
| Description | The NUP98-JARID1A fusion protein contains the Phe-Gly (FG) repeats of the N-terminal part of NUP98. The JARID1A sequence starting with exon 28 still contains the sequence encoding the C-terminal PHD domain |
| External links |
| Other database | t(11;12)(p15;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;12)(p15;p13) | CancerChromosomes (NCBI) |
| 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 |
| Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene. |
| van Zutven LJ, Onen E, Velthuizen SC, van Drunen E, von Bergh AR, van den Heuvel-Eibrink MM, Veronese A, Mecucci C, Negrini M, de Greef GE, Beverloo HB |
| Genes, chromosomes & cancer. 2006 ; 45 (5) : 437-446. |
| PMID 16419055 |
| Contributor(s) |
| Written | 04-2006 | Laura JCM van Zutven, H Berna Beverloo |
| Citation |
| This paper should be referenced as such : |
| van Zutven LJCM, Beverloo HB . t(11;12)(p15;p13). Atlas Genet Cytogenet Oncol Haematol. April 2006 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1112p15p13ID1428.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:14 CET 2010 |
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