Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(3;11)(q29;p15)
| Identity |
 | |
| Complex translocation t(3;11)(q29q13;p15)del(3)(q29). A: Red arrow indicates der(3); green arrow indicates der(11). The chromosomes displaying only red color or green color (yellow arrows) are normal chromosomes 11 and 3, respectively. Insert: Representative partial karyotype showing t(3;11). | |
| Clinics and Pathology |
| Disease | Bi-phenotypic acute T-lymphoid/myeloid leukemia |
| Phenotype / cell stem origin | Only one case available; BM showed 82.5% blast cells mostly with myeloid features. Immunophenotype: CD34+ cells count 35.6%, CD13+ 25.9%, CD33+ 85.4%, MPO+ 20.6% and CD3+ 65.9%, CD7+ 96.5%. |
| Clinics | Only one case available; the patient was a 42-year-old female at diagnosis. After the chemotherapy with vincristine, cytarabine and mitoxantrone, she achieved complete remission (CR), but relapsed after 4 months, and died from intracranial hemorrhage at the 22nd months. |
| Prognosis | The prognostic implication of t(3;11)(q29q13;p15)del(3)(q29) remains to be defined. |
| Cytogenetics |
 | |
| B: Schematic diagram of t(3;11)(q29q13;p15)del(3)(q29). | |
| Additional anomalies | +21 |
| Genes involved and Proteins |
| Gene Name | NUP98 |
| Location | 11p15.5 |
| Protein | Nucleoporin 98, a 98 kDa component of the nuclear pore complex, which mediates nucleo-cytoplasmic transport of protein and RNA. |
| Gene Name | IQCG (IQ motif containing G) |
| Location | 3q29 |
| Protein | 443 amino acids. |
| Result of the chromosomal anomaly |
| Description | 5' NUP98 - 3' IQCG; Molecular analysis showed that exon 13 of NUP98 is fused in-frame to exon 10 of IQCG. |
| Description | It fuses the GLFG repeat domains of NUP98 to one coiled-coil domain and IQ motif of IQCG. |
| Expression Localisation | Nuclear localization. |
| External links |
| Other database | t(3;11)(q29;p15) | Mitelman database (CGAP - NCBI) | |
| Other database | t(3;11)(q29;p15) | 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 |
| A new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation. |
| Pan Q, Zhu YJ, Gu BW, Cai X, Bai XT, Yun HY, Zhu J, Chen B, Weng L, Chen Z, Xue YQ, Chen SJ. |
| Oncogene. 2008 May 29;27(24):3414-23. |
| PMID 18084320 |
| Contributor(s) |
| Written | 02-2009 | Li-Ting Chen, Sai-Juan Chen |
| Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China |
| Citation |
| This paper should be referenced as such : |
| Chen L-T, Chen S-J . t(3;11)(q29;p15). Atlas Genet Cytogenet Oncol Haematol. February 2009 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0311q29p15ID1508.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:45:41 CET 2010 |
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