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

Written	2007-05	Adriana 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 Card

t(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

Citation

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