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(Paper co-edited with the European LeukemiaNet)
A new case of t(1;11)(q21;q23) in a child with M1 ANLL
Written2005-01Katell Le Du, Eric Jeandidier, Francine Garnache, Pierre Rohrlich, Jean-Luc Bresson, Marie-Agns Collonge-Rame
Service de Génétique, Histologie, Biologie du Développement et de la Reproduction.CHU - Place St Jacques, 25030 BESANCON Cedex, France ;
Age and sex : 21 month(s) old male patient.
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
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).
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)
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.
bone marrow (MGG staining)
partial karyotype showing the t(1;11)(q21;q23)(R bands)
FISH results
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 Cardt(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 genetics and cytogenetics. 1989 ; 37 (2) : 269-271.
PMID 2702626
A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.
Tse W, Zhu W, Chen HS, Cohen A
Blood. 1995 ; 85 (3) : 650-656.
PMID 7833468
Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 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 : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (2) : 302-306.
PMID 10025907


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