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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
t(3;5)(q25;q35) as a sole anomaly in acute myeloid leukemia patient
 
Written2007-05Adriana Zamecnikova
Kuwait Cancer Control Center, Lab of Cancer Genetics, Department of Hem, Shuwaikh, POBox 42262, Shuwaikh, 70653 Kuwait
Clinics
Age and sex : 36 year(s) old female 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 : 1.9 x 109/L ; Hb : 10.0 g/dL ; platelets : 41 x 109/L; blasts : 11 % .
Bone marrow : Peroxidase positive.
Cyto pathology classification
Cytology : Acute Myeloid Leukemia.
Immunophenotype : Not available.
Rearranged Ig Tcr : -
Pathology : -
Electron microscopy : -
Precise diagnosis : Acute Myeloid Leukemia, M2.
Survival
Date of diagnosis: (03-2007)
Treatment : Left for treatment abroad.
Complete remission was obtained
Comments : /-. Not known as the patient left for treatment abroad.
Treatment related death : -
Relapse : -
Phenotype at relapse : -
Status : L (03-2007)
Survival : 1 month(s)
Karyotype
Sample : BM ; culture time : 24 h ; banding : G-band
Results : 46,XY,t(3;5)(q25;q35)
Other molecular cytogenetics technics : Fluorescence in situ hybridisation (FISH), with LSI 5q EGR1 SO/D5S23 SG) and LSI BCL6 DC probes obtained from Vysis (Downers Grove IL, USA).
Other molecular cytogenetics results : Analysis with LSI 5q EGR1 SO/D5S23 SG probe revealed one red and green signal on normal chromosome 5 and on der(5) chromosome. Analysis with LSI BCL6 DC probe revealed one fusion signal on normal chromosome 3 and a fusion signal on der(5) distal to EGR1 locus confirming the t(3;5).
Karyotype of the patient demonstrating the t(3;5)(q25;q35).
LSI BCL6 DC, Break Apart Rearrangement Probe exhibiting one red/green fusion on normal chromosome 3 and fusion signal on der(5) distal to EGR1. Hybridization with LSI 5q EGR1 SO/D5S23 SG probe on metaphase showing one red and green signal on normal and der(5) chromosome.
Comments
A 36-years old Kuwaiti female was referred to our hospital due to pancytopenia and hair loss. Initial investigation showed: WBC 1.9 x 109/l (neutr 35%, lymphocy 50%, mono 2%, eos 1%, myelo 1%), blasts 11%, NRBC 8/100. Based on laboratory findings the diagnosis of AML-M2 was made.
The chromosomal translocation t(3;5)(q25;q35) was observed only in individual cases. From the 5 described cases, 3 cases (2 male 1 female) were diagnosed with MDS and 2 cases with AML-M6 (1 male 1 female) suggesting the rearrangement with possible involvement of NPM/MLF1 genes is associated with myeloid malignancies.
Internal links
Atlas Cardt(3;5)(q25;q34)
Bibliography
Clinical, morphologic, and cytogenetic characteristics of 26 patients with acute erythroblastic leukemia.
Olopade OI, Thangavelu M, Larson RA, Mick R, Kowal-Vern A, Schumacher HR, Le Beau MM, Vardiman JW, Rowley JD
Blood. 1992 ; 80 (11) : 2873-2882.
PMID 1450412
 
Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia.
Arber DA, Chang KL, Lyda MH, Bedell V, Spielberger R, Slovak ML
Human pathology. 2003 ; 34 (8) : 809-813.
PMID 14506644
 
Loss of the NPM1 gene in myeloid disorders with chromosome 5 rearrangements.
Berger R, Busson M, Baranger L, Hélias C, Lessard M, Dastugue N, Speleman F
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 319-321.
PMID 16341035
 

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