2009 Vienna - European Society of Human Genetics

Cancer genetics
- Molecular). mFISH/mBAND 11 with the probe kits from MetaSystems
were used to identify the breakpoints and complex chromosomal rearrangements.
The MLL gene amplification/duplication was detected in 6
patiens (7%). Of these, 11q partial trisomy was found in two and multiple
amplification of MLL gene within complex karyotype in two patients,
MLL 5‘ end multiple amplification with subsequent insertion into short
arm of chromosome 10 in one patient. Chromosome 11 trisomy was
proved in one patient. The prognosis of patients with MLL amplification
is poor. In our cohort 4 patient died, one is alive seven months after
bone marrow transplantation, another one two months after diagnosis.
Molecular cytogenetic and clinical data will be presented in detail.
Conclusion: MLL amplification/duplication are differentially manifested
and molecular analyses are needed to clarify all cryptic aberrations
undetectable by conventional techniques.
Supported by grants NR9227-3, MZO00023736, NR9481-3,
MSM0021620808.
P06.195
case report of rare mLL-AF1q fusion resulting from
t(1;11)(q21;q23) in childhood acute myelomonocytic leukaemia
A. Divane 1 , A. Sandu 2 , G. Paterakis 3 , N. Georgakopoulos 1 , M. Moschovi 2 ;
1 Department of Cytogenetics, Locus Medicus, Diagnostic Centre, Athens,
Greece, 2 Hematolgy/Oncology Unit, 1st Dept of Pediatrics, University of Athens,
“Aghia Sophia” Children’s Hospital, Athens, Greece, 3 G Gennimatas” General
Hospital, Athens, Greece.
A 13 month-old girl was admitted to our Unit due to fever (39,5 0 C). On
physical examination, she was in good condition, with pallor. Liver was
palpable 1cm bellow the costal margin. Facial petechial exanthema
was noticed.
Laboratory work-up showed: Peripheral blood tests: Hb 5.9gr/dl, Ht
18.3%, WBCs 56900/mm3, blasts 48%, PLTs 27000/mm3. The bone
marrow aspiration revealed infiltration with blasts 60%. The cerebrospinal
fluid was normal. Chest X-ray, ultrasound and CT of the abdomen
were normal. Serological tests for HSV 1 and 2 were negative,
EBV IgG positive, IgM negative and CMV IgG positive, IgM negative.
Immunophenotypic analysis of blasts revealed Acute Myelomonocyt
Leukaemia (M5b) CD33+, CD64+, CD15+, CD11b+, CD 4+, cMPO+,
CD56+/-, CD13 +/-.
Conventional and molecular cytogenetics analysis of BM were performed.
FISH analysis using LSI MLL t(11q23), EVI,inv(3)(q26),t(3;3)
and LSI PML/RARAt(15;17)(q22;q21.1) revealed rearrangement only
for the MLL gene in 90.9% of the nuclei that were analyzed. Conventional
cytogenetic analysis revealed a clone of t(1;11)(q21;q23) on
both, bone marrow and peripheral blood samples.
She received chemotherapy according to AML-BFM-2004 protocol.
She received cytoreductive prephase with 6-thioguanin and cytarabine
because of high leukocyte count. Reduction of WBC was observed on
the same day.
On day 15 in bone marrow, morphologically, blasts were