| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| A new case of t(1;11)(q21;q23) in a child with M1 ANLL |
| Katell Le Du, Eric Jeandidier, Francine Garnache, Pierre Rohrlich, Jean-Luc Bresson, Marie-Agnès Collonge-Rame |
| Clinics |
| Age and sex : | 21 month(s) old male patient. |
| Organomegaly : | no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes |
| Blood |
| WBC : 10.6 x 109/l; Hb : 7.1 g/dl; platelets : 71 x 109/l; blasts : 8% |
| Cyto pathology classification |
| Cytology : Bone marrow: 84 % of blastic cells. Cytochemestry: peroxydase: 100% of positive blasts ; butyrate esterase: positive in 11% of blasts. |
| Immunophenotype : CD13+,CD15+,CD65+,CD33+,CD117+, MPO+, MDR-, CD34-, CD36-, CD14-, CD4+, lineage B-, lineage T-. |
| Precise diagnosis : AML1 (FAB classification), LAM with 11q23 abnormalities (WHO classification). |
| Survival |
| Date of diagnosis: 04-2004 |
| Treatment : Induction treatment including cytosine-arabinoside (200 mg/m_ D+1 to D+8) and mitoxantrone (12 mg /m_ D+1, D+2, D+3). One intrathecal injection (including methotrexate, steroids, and cytosine-arabinoside). |
| Complete remission : None |
| Relapse : - |
| Survival : 8 month(s) |
| Karyotype |
| Sample : Bone marrow ; culture time : 24/72 h ; banding : G and R banding |
| Results : 46,XY,t(1;11)(q21;q23)[6] |
| Other molecular cytogenetics technics : Fluorescence in Situ Hybridization was performed using a MLL dual color, break apart rearrangement probe and a chromosome 1 specific labeled spectrum green painting probe (ABBOTT). |
| Other molecular cytogenetics results : confirmation of MLL rearrangement by the t(1;11)(q21;q23). |
| Other molecular studies |
| results : MLL multiplex PCR [t(4;11), t(6;11), t(9;11), t(10;11), t(11;19)]: negative. ETO/AML1 : negative. MYH11/CBFB : negative. FLT3 mutations research : negative. |
| Other findings |
| results : Meningeal punction : no blastic cells infiltration. |
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| bone marrow (MGG staining) |
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| partial karyotype showing the t(1;11)(q21;q23)(R bands) |
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| FISH results |
| Comments |
| To our knowledge, 26 cases of translocation t(1;11)(q21;q23) (involved the genes AF1q (1q21) and MLL(11q23) have already been described in the literature. All cases were acute leukemia except for one secondary myelodysplastic syndrome. In 14 cases (57 %), the translocation was the sole abnormality. The other 12 cases showed additional chromosomal abnormalities. This rare translocation is preferentially associated with AML4, AML5, or biphenotypic leukemia of infants or children. Only one case of AML M1/M2 in a 3-year-old female was reported with t(1;11)(q21;q23) as the sole karyotypic change. We present here the second case of AML1 with t(1;11)(q21;q23). The chid is in complete remission at 6 months after diagnosis. |
| Internal links |
| Atlas Card | t(1;11)(q21;q23) |
| Bibliography |
| t(1;11)(q21;q23) |
| The Cancer Genome Anatomy Project Mitelman Cases Quick Searcher. |
| Translocation t(1;11)(q21;q23), a new subgroup within M4 acute nonlymphocytic leukemia. |
| Meloni-Balliet AM, Morgan R, Piatt J, Sandberg AA. |
| Cancer Genet Cytogenet 1989; 37: 239-271. |
| PMID 2702626 |
| A novel gene, AF1q, fused to MLL in t(1;11)(q21;q23), is specifically expressed in leukemic and immature hematopoïetic cells. |
| Tse W, Zhu W, Chen HS, Cohen A. |
| Blood 1995; 85: 650-656. |
| PMID 7833468 |
| Ten novel 11q23 chromosomal partner sites. |
| Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM. |
| Leukemia 1998; 12: 811-822. |
| PMID 9593286 |
| MLL-AF1q fusion resulting from t(1,11) in acute leukemia. |
| Busson-Le Coniat M, Salomon-Nguyen F, Hillion J, Bernard OA, Berger R. |
| Leukemia 1999; 13: 302-306. |
| PMID 1002590 |
| Contributor(s) |
| Written | 01-2005 | Katell Le Du, Eric Jeandidier, Francine Garnache, Pierre Rohrlich, Jean-Luc Bresson, Marie-Agnès Collonge-Rame |
| Citation |
| This paper should be referenced as such : |
| Le Du K, Jeandidier E, Garnache F, Rohrlich P, Bresson JL, Collonge-Rame MA . A new case of t(1;11)(q21;q23) in a child with M1 ANLL. Atlas Genet Cytogenet Oncol Haematol. January 2005 . URL : http://AtlasGeneticsOncology.org/Reports/0111CollongeID100008.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Apr 17 14:15:18 2008 |
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