Atlas of Genetics and Cytogenetics in Oncology and Haematology
| 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 |
| 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% |
| 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 |
| Contributor(s) |
| Written | 05-2007 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait |
| Citation |
| This paper should be referenced as such : |
| Zamecnikova A . . Atlas Genet Cytogenet Oncol Haematol. May 2007 . URL : http://AtlasGeneticsOncology.org/Genes/0304ZamecnikovaID100026.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:46 CET 2013 |
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