t(3;4)(p21;q34) as a sole anomaly in acute myeloid leukemia patient

Adriana Zamecnikova  

Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
32 yrs
Sex
M
Liver
+
Spleen
+
Lymph nodes
+
Cns involv
-

Blood data

Wbc
68.4
Hb
11.7
Platelets
120
Blasts
93
Bone marrow
MPO positive, Sudan Black positive, PAS negative, NSE negative.

Cyto path

Cytology
Acute Myeloid Leukemia
Immunophenotype
Positive for CD 34, HLDR, CD33, CD34, CD68, myeloperoxidase.
Rearranged ig tcr
-
Pathology
-
Electron microscopy
-
Precise diagnosis
Acute Myeloid Leukemia, M1.

Survival data

Date diagnosis
05-2006
Treatment
Allopurinol, Hydroxyurea, Tazocin, Amikacin (ADE 10, ADE 8).
Complete remission
-
Treatment relat death
-
Relapse
-
Phenotype relapse
-
Status
A
Date last follow
05-2007 traveled to receive BMT, allogenic BMT on 29-08-06.
Survival
12 +

Karyotype

Sample
BM
Culture time
24
Banding
G-band
Results
46,XY,t(3;4)(p21;q34)
Mol cytogenet technics
Fluorescence in situ hybridisation (FISH), with WCP 3 and 4 probes to confirm the t(3;4). To confirm the translocation of 3p and to exclude the translocation t(3;5)(q25;q34-35) FISH studies with LSI BCL6 and EGR1 SO/D5S23 probes were performed (Vysis, Downers Grove IL, USA).
Mol cytogenet results
Using WCP 3 and 4 probes we confirmed the rearranged chromosomes 3 and 4. Analysis with LSI BCL6 probe revealed one red/green fusion signal on the 3q27 allele in the normal chromosome 3, and a fusion signal on the long arm of the der(3). Hybridization with LSI 5q SpectrumOrange/5p SpectrumGreen probe revealed 2 normal chromosomes 5, excluding the rearrangement of chromosome 5.

Other findings

Note
LDH almost 3 folds upper normal limit.

Images

Atlas Image
Partial karyotypes (G-banding) demonstrating rearrangened chromosomes 3 and 4.
Atlas Image
Whole chromosome paintings with rearrangened chromosomes 3 and 4 and hybridization with LSI BCL6 and LSI 5qSO/5pSG probes showing the fusion signal on normal chromosome 3 and on der(3) chromosome and two normal chromosomes 5.

Comments section

Comments
3p21 is a recurrent breakpoint in MDS/AML and t-MDS/t-AML suggesting, 3p21 site is likely to contain a gene (genes) involved in the pathogenesis of t(3;4)(p21;q34). One previous case of t(3;4)(p21;q34) was found in a refractory anemia, making this anomaly recurrent. The similar cytogenetic appearance of a rare t(3;4)(p21;q34) and the more frequent t(3;5)(q25;q34) in suboptimal preparations reinforces the utility of FISH technique for assessing chromosomal abnormalities in AML.

Bibliography

Pubmed IDLast YearTitleAuthors
897638919963p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia.Shi G et al
170745852006Risk factor analysis in myelodysplastic syndrome patients with del(20q): prognosis revisited.Liu YC et al

Citation

Adriana Zamecnikova

t(3;4)(p21;q34) as a sole anomaly in acute myeloid leukemia patient

Atlas Genet Cytogenet Oncol Haematol. 2007-05-01

Online version: http://atlasgeneticsoncology.org/case-report/208824/t(3;4)(p21;q34)-as-a-sole-anomaly-in-acute-myeloid-leukemia-patient