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

Adriana Zamecnikova

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%

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 Card

t(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, Hˆ©lias 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

Contributor(s)

Written

05-2007

Adriana Zamecnikova

Citation

This paper should be referenced as such :

Zamecnikova A . t(3;5)(q25;q35) as a sole anomaly in acute myeloid leukemia patient. Atlas Genet Cytogenet Oncol Haematol. May 2007 . URL : http://AtlasGeneticsOncology.org/Reports/0305ZamecnikovaID100025.html

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indexed on : Mon Aug 11 21:22:51 2008

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