Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(8;13)(p12;q12)
| Clinics and Pathology |
| Disease | a myeloproliferative disorder that is frequently associated with T cell, or less commonly, B-cell non Hodgkin lymphoma |
| Phenotype / cell stem origin | may involve a stem cell involving both myeloid, T lineage, and B-cell lineage |
| Epidemiology | 14 cases are described; median age 43 yrs (range 18-68); sex ratio: 6M/8F |
| Clinics | aggressive disease; complex picture of myeloid hyperplasia progressing to myelodysplasia and Tor -B- cell lymphoma; enlarged lymph node; blood data: high WBC (median 40 X 109/l); myelemia; monocytosis and eosinophilia |
| Evolution | the disease transforms to ANLL, or occasionally ALL, in a median of 6 months |
| Prognosis | median survival: 12 months |
| Cytogenetics |
| Cytogenetics Morphological | the same t(8;13) is found both in the bone marrow and in the lymph node, ruling out the hypothesis of a leukemoid reaction caused by a lymphoma; the multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell. |
| Probes | megac Yacs 770-c-2 (1390 kb) and 959-a-4 (1260kb), 856-b-6, 967; 899e2 - (CEPH); BAC 7M15; PAC RPCI 20-G12; FGFR1-specific cosmid 134.8; |
| Additional anomalies | usually occurs as a single anomaly; duplication of the der(13) was found during disease progression, suggesting that the crucial event might lie on this derivative chromosome; +8, +21 are also recurrently found |
| Genes involved and Proteins |
| Gene Name | FGFR1 |
| Location | 8p12 |
| Gene Name | ZNF198 (also called FIM or ID_P) |
| Location | 13q12 |
| Protein | zinc finger protein (ten repeats in the N-terminal region with the consensus sequence C-X2-C-X18-24-(F/Y)-C-X3-C that corresponds to a novel type of zing finger motifs), a hydrophobic repeat (proline-rich), and potentially two putative nuclear localisation signals |
| Result of the chromosomal anomaly |
 | |
| Description | breakpoint in FGFR1 intron 8 |
| Description | Aberrant tyrosine kinase composed of the N-term two-thirds of FIM (retaining the 10 putative zinc finger motifs), and the FGFR1 intracellular region minus the major part of the juxtamembrane domain (and deleting the N-term immunoglobulin-like and central transmembrane domains of FGFR1) |
| Oncogenesis | through constitutive activation of FGFR1 signal transduction pathways, possibly via dimerization capability mediated by the FIM N-term sequences of the fusion protein |
| External links |
| Other database | t(8;13)(p12;q12) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;13)(p12;q12) | CancerChromosomes (NCBI) |
| To be noted |
| Case Report | t(8;13)(p12;q12) in an atypical chronic myeloid leukaemia case |
| Bibliography |
| Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. |
| Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC |
| Blood. 1997 ; 90 (8) : 3130-3135. |
| PMID 9376594 |
| Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). |
| Popovici C, Adˆ©laˆØde J, Ollendorff V, Chaffanet M, Guasch G, Jacrot M, Leroux D, Birnbaum D, Pˆ©busque MJ |
| Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (10) : 5712-5717. |
| PMID 9576949 |
| Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. |
| Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC, Gonˆßalves C, Hernandez JM, Jennings BA, Goldman JM, Cross NC |
| Blood. 1998 ; 92 (5) : 1735-1742. |
| PMID 9716603 |
| The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. |
| Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G, Venter D, Fagan K, Cooper C, Shipley J |
| Human molecular genetics. 1998 ; 7 (4) : 637-642. |
| PMID 9499416 |
| FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. |
| Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA |
| Nature genetics. 1998 ; 18 (1) : 84-87. |
| PMID 9425908 |
| The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. |
| Kulkarni S, Reiter A, Smedley D, Goldman JM, Cross NC |
| Genomics. 1999 ; 55 (1) : 118-121. |
| PMID 9889006 |
| Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. |
| Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pˆ©busque MJ |
| The Journal of biological chemistry. 1999 ; 274 (38) : 26922-26930. |
| PMID 10480903 |
| ZNF198-FGFR1 transforms Ba/F3 cells to growth factor independence and results in high level tyrosine phosphorylation of STATS 1 and 5. |
| Smedley D, Demiroglu A, Abdul-Rauf M, Heath C, Cooper C, Shipley J, Cross NC |
| Neoplasia (New York, N.Y.). 1999 ; 1 (4) : 349-355. |
| PMID 10935490 |
| ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain. |
| Xiao S, McCarthy JG, Aster JC, Fletcher JA |
| Blood. 2000 ; 96 (2) : 699-704. |
| PMID 10887137 |
| Contributor(s) |
| Written | 03-1998 | Jean-Loup Huret, Dominique Leroux and Alain Bernheim |
| Citation |
| This paper should be referenced as such : |
| Huret JL, Leroux D, Bernheim A . t(8;13)(p12;q12). Atlas Genet Cytogenet Oncol Haematol. March 1998 . URL : http://AtlasGeneticsOncology.org/Anomalies/t813ID1094.html |
| Pébusque MJ, Cross NCP . t(8;13)(p12;q12). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t813ID1094.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:13:22 2008 |
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