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-Agns Collonge-Rame  

Service de Génétique, Histologie, Biologie du Développement et de la Reproduction.CHU - Place St Jacques, 25030 BESANCON Cedex, France ; Macollongerame@chu-besancon.fr

Previous history

Preleukaemia
No preleukemia.
Malignant disease
No previous solid tumors.
Inborn condition
Prematurity (borth at 33 weeks of gestation).
Main items
Acute leukemia in the maternal grand-father

Clinics case report

Age
21 mths
Sex
M
Liver
-
Spleen
-
Lymph nodes
-

Blood data

Wbc
10.6
Hb
7.1
Platelets
71
Blasts
8

Cyto path

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 data

Date 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
Yes
Relapse
-
Survival
8 +

Karyotype

Sample
Bone marrow
Culture time
24/72
Banding
G and R banding
Results
46,XY,t(1;11)(q21;q23)[6]
Mol cytogenet 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).
Mol cytogenet results
confirmation of MLL rearrangement by the t(1;11)(q21;q23).

Other molec 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

Note
Meningeal punction : no blastic cells infiltration.

Images

Atlas Image
bone marrow (MGG staining)
Atlas Image
partial karyotype showing the t(1;11)(q21;q23)(R bands)
Atlas Image
FISH results

Comments section

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.

Bibliography

Pubmed IDLast YearTitleAuthors
27026261989Translocation t(1;11)(q21;q23), a new subgroup within M4 acute nonlymphocytic leukemia.Meloni-Balliet AM et al
78334681995A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.Tse W et al
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
100259071999MLL-AF1q fusion resulting from t(1;11) in acute leukemia.Busson-Le Coniat M et al

Citation

Katell Le Du, Eric Jeandidier, Francine Garnache, Pierre Rohrlich, Jean-Luc Bresson, Marie-Agns Collonge-Rame

A new case of t(1;11)(q21;q23) in a child with M1 ANLL

Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/case-report/208806/a-new-case-of-t(1;11)(q21;q23)-in-a-child-with-m1-anll