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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
t(3;4)(p21;q34) as a sole anomaly in acute myeloid leukemia patient
 
Written2007-05Adriana Zamecnikova
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait
Clinics
Age and sex : 32 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 68.4 x 109/L ; Hb : 11.7 g/dL ; platelets : 120 x 109/L; blasts : 93 % .
Bone marrow : MPO positive, Sudan Black positive, PAS negative, NSE negative.
Cyto pathology classification
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
Date of diagnosis: 05-2006
Treatment : Allopurinol, Hydroxyurea, Tazocin, Amikacin (ADE 10, ADE 8).
Complete remission : None
Treatment related death : -
Relapse : -
Phenotype at relapse : -
Status : Alive 05-2007 traveled to receive BMT, allogenic BMT on 29-08-06.
Survival : 12 month(s)
Karyotype
Sample : BM ; culture time : 24 h ; banding : G-band
Results : 46,XY,t(3;4)(p21;q34)
Other molecular cytogenetics 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).
Other molecular cytogenetics 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
results : LDH almost 3 folds upper normal limit.
Partial karyotypes (G-banding) demonstrating rearrangened chromosomes 3 and 4.
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
A 31-year-old Kuwaiti male presented with 3-months history of fatigue, recurrent sore throat attacks and a 2-day history of recurrent vomiting and loose motions. Physical examinations revealed left cervical lymphadenopaty and hepatosplenomegaly. Laboratory investigations showed Hb 11.7g/dl, platelets 120x109/l and white blood cells 68.4x109/L. Bone marrow smears were markedly hypercellular with 93% large blast cells. Cytochemical studies showed myeloperoxydase positive (60%), Sudan Black B positive (74.6%), PAS and non-specific esterase negative blast cells. On the basis of these morphological findings, a diagnosis of acute myeloid leukemia (FAB-M1 type) was made.
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.
Internal links
Atlas Cardt(3;4)(p21;q34)
Bibliography
3p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia.
Shi G, Weh HJ, Martensen S, Seeger D, Hossfeld DK
Cytogenetics and cell genetics. 1996 ; 74 (4) : 295-299.
PMID 8976389
 
Risk factor analysis in myelodysplastic syndrome patients with del(20q): prognosis revisited.
Liu YC, Ito Y, Hsiao HH, Sashida G, Kodama A, Ohyashiki JH, Ohyashiki K
Cancer genetics and cytogenetics. 2006 ; 171 (1) : 9-16.
PMID 17074585
 

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