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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Chromosomal translocation t(X;11)(q22;q23) involving the MLL gene
 
Written2011-09Adriana Zamecnikova, Soad Al Bahar, Hassan A Al Jafar, Rames Pandita
Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait (AZ, SAB, RP); Dep of Hematology, Amiri Hospital, Kuwait (HAAJ)
Clinics
Age and sex : 15 month(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 50.2 x 109/L ((neutrophils 2% lymphocytes 68% probably blasts monocytes 16% atypical lymphocytes 14% undifferenciated cells)); Hb : 10.2 g/dL ; platelets : 191 x 109/L; blasts : 14 % .
Bone marrow : The bone marrow was hypercellular with more than 50% blasts that were positive for CD45, CD33, CD15, CD13, CD14 and HLA-DR.
Cyto pathology classification
Cytology : AML M4
Immunophenotype : M4. CD13+,CD14+, CD15+, CD33+, CD45+, CD64+ and MPO.
Precise diagnosis : Acute myelomonocytic leukemia
Survival
Date of diagnosis: 02-2010
Treatment : Chemotherapy (ADE)
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 02-2011
Survival : 12 month(s)
Karyotype
Sample : BM ; culture time : 24 h ; banding : G-band
Results :
Karyotype at relapse : 46,XY [5] / 46,Y,t(X;11)(q22;q23) [25]
Other molecular cytogenetics technics : Fluorescence in situ hybridization.
Other molecular cytogenetics results : MLL rearrangement was identified using the LSI MLL (11q23) Dual Color Break Apart Rearrangement probe (Abbott Molecular) revealing 80% of cells with MLL rearrangement. The rearrangement was confirmed in metaphases demonstrating that the distal part of the MLL gene was juxtaposed to the der(X) chromosome.
Top: partial karyotype of the patient. Bottom: fluorescence in situ studies were performed successively on G-banded slides prepared for chromosome analysis using a locus-specific, break-apart probe for MLL (green and red signals) and with centromeric X/Y probe (Vysis) (red and green signal). Hybridization on metaphase cells with the MLL probe detected one MLL signal on the normal chromosome 11 (red-green fusion signal) and signals on the der(11) (green signal) and the der(X), confirming MLL disruption. The red signal from MLL has moved to the derivative chromosome X, indicating that the breakpoint is in the 5' of the MLL gene. Arrows indicate derivative chromosomes, arrow heads are pointing to derivative chromosomes X and 11.
Comments
A previously healthy, 15 months-old boy presented with fever, and chest infection was diagnosed with acute myeloid leukemia FAB M4 in February 2010. His biochemistry was significant for GGT (8 IU/L; normal 9-40) and LDH 350 (normal 90-225). Chromosomal studies performed at diagnosis revealed the karyotype 46,Y,t(X;11)(q22;q23) in 25 out of 30 metaphases. Fluorescence in situ hybridization study showed rearrangement of the MLL gene in interphase and metaphase cells revealing that the break-apart 5'-MLL segment is translocated to the derivative X chromosome. The patient achieved a complete hematological remission with chemotherapy one month later. Chromosomal and FISH studies performed in April, June, August and December confirmed the complete cytogenetic response without rearrangment of the MLL gene. He remains disease free 1 year from diagnosis. Our case together with the few reported similar cases suggest that chromosomal band Xq22 is a recurring 11q23 chromosomal partner in a subgroup of infant leukemia patients with AML.
As the gene in Xq22 is yet unknown, it is therefore uncertain whether this translocation involve a new MLL partner. Due to the similar clinical features with patients with t(X;11)(q13;q23) involving the FOXO4/MLL genes, (such as occurrence in infants and young children diagnosed with acute myelomonocytic leukemia), the possibility of involvement of FOXO4 or FOXO related gene in our patient cannot be excluded. In addition as MLL rearrangements are frequently confirmed in cases with highly complex changes, complex and/or cryptic changes cannot be excluded.
Internal links
Atlas Cardt(X;11)(q22;q23)
Bibliography
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Leukemia. 1998 May;12(5):811-22.
PMID 9593286
 
Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases.
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PMID 8220128
 
The application of conventional cytogenetics, FISH, and RT-PCR to detect genetic changes in 70 children with ALL.
Soszynska K, Mucha B, Debski R, Skonieczka K, Duszenko E, Koltan A, Wysocki M, Haus O.
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PMID 18633615
 

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