Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia |
| Siddharth G Adhvaryu, Alka Dwivedi, Peggy Stoll |
| Clinics |
| Age and sex : | 25 year(s) old male patient. |
| Previous History : | no preleukemia |
| no previous malignant disease | |
| no inborn condition of note | |
| Organomegaly : | no hepatomegaly (Negative to palpation; Ultrasound not done) ; no splenomegaly (Negative to palpation; Ultrasound not done) |
| Blood |
| WBC : 19.6 x 109/l; Hb : 12.3 g/dl; platelets : 15 x 109/l; blasts : 68% |
| Cyto pathology classification |
| Cytology : Precursor B-cell acute lymphoblastic Leukemia (WHO) |
| Immunophenotype : Flow cytometric analysis of the marrow was performed at the Methodist Hospital. The blasts had a precursor B-lymphoblast phenotype: CD19 positive, CD20 positive, CD10 positive, CD79a positive (cytoplasmic) and TdT positive. Myeloid markers (CD13, CD33, CD14, CD117 and myeloperoxidase) are negative. T-cell markers (CD3, CD5, CD7, CD4 and CD8) are also negative. CD34 is positive (partial). |
| Rearranged Ig Tcr : Not done |
| Electron microscopy : Not done |
| Precise diagnosis : Precursor B-cell Acute Lymphoblastic Leukemia |
| Survival |
| Date of diagnosis: 11-2006 |
| Treatment : Asparaginase, Cyclophosphamide, Daunorubicin, Vineristine |
| Complete remission was obtained |
| Comments : Bone marrow examination on 12-04-2006 is compatible with early remission. |
| Treatment related death : No; Discharged from hospital on 12-06-2006 |
| Relapse : - |
| Status : Alive |
| Karyotype |
| Sample : Peripheral Blood ; culture time : 24/48 h ; banding : GTW |
| Results : 46-47, XY,del(5)(q34),t(6;14) (p22;q32),i(9)(q10),del(17)(p10),-20,+mar[cp6] |
| Other molecular cytogenetics technics : Fluorescence In Situ Hybridization (FISH) |
| Other molecular cytogenetics results : FISH was performed using Vysis LSI IGH dual color, break apart rearrangement probe. The analysis revealed an IgH rearrangement with the green signal on der (6). |
 |
| Representative metaphase of case number 06-1570 |
 |
| Partial karyotype of case number 06-1570 showing the new t(6;14)(p22;q32) and other anomalies |
 |
| FISH results showing 14q32 translocation |
| Comments |
| There are few reports documenting t(6;14)(p21.1;q32.3), in cases of multiple myeloma/plasma cell leukemia and diffuse large B cell non Hodgkin lymphoma. Our case report shows a karyotype with multiple abnormalities. One significant abnormality observed was the loss of 9 p in the form of i(9)(q10), which is a common finding in precursor B-cell lymphoblastic leukemia. Our case also showed partial deletions of 5q and 17p. We observed a novel translocation t(6;14) (p22;q32) in a patient with Precursor B-cell Acute Lymphoblastic Leukemia. FISH studies performed on the metaphases of this specimen confirmed the translocation of IGH (located on 14q32.3). E2F3 is a transcription factor located on 6p22 that is reported to play a critical role in regulating normal cellular proliferation and differentiation. Though the exact gene in 6p22 translocation is not yet known, it is speculated that E2F3 might be clinically significant in leukemia/MDS. However, involvement of Geminin, DNA replication inhibitor (GMNN) located on 6p22.2 cannot be ruled out. |
| Call for collaboration |
| Dr Siddharth G Adhvaryu, Director, Cytogenetics Laboratory, UTHSCSA, San Antonio, TX-78229, Ph: 210-567-4021, 210-567-4050/4051; E-mail: ADHVARYU@UTHSCSA.EDU |
| Internal links |
| Atlas Card | t(6;14)(p22;q32) |
| Bibliography |
| E2F3 is critical for normal cellular proliferation. |
| Humberto PO, Verona R, Trimarchi JM, Rogers C, Dandapani S, Lees JA. |
| PMID 10733529 |
| Cyclin D3 is a target of t(6;14)(p21.1;q32.3) of mature B-cell malignancies. |
| Sonoki T, Harder L, Horsman DE, Karran L, Taniguchi I, Willis TG, Gesk S, Steinemann D, Zucca E, Schlegelberger B, Sole F, Mungall AJ, GAscoyne RD, Seibert R, Dyer MJ. |
| Blood. 2001; 98(9): 2837-2844. |
| PMID 11675358 |
| Rereplication by depletion of geminin is seen regardless of p53 status and activates a G2/M checkpoint. |
| Zhu W, Chen Y, Dutta A. |
| Mol Cell Biol. 2004; 24(16): 7140-7150. |
| PMID 15282313 |
| t(6;14)(p21;q32). |
| Viguié F. |
| Atlas Genet Cytogenet Oncol Haematol 2005; 9 (3): 476-478. http://AtlasGeneticsOncology.org/Anomalies/t0614p21q32ID1306.html |
| E2F3 is the main target gene of the 6p22 amplicon with high specificity for human bladder cancer. |
| Oeggerli M, Schraml P, Ruiz C, Bloch M, Novotny H, Mirlacher M, Sauter G, Simon R. |
| Oncogene. 2006; 25(49): 6538-6543. |
| PMID 16953223 |
| Translocation (14;18)(q32;q21) in acute lymphoblastic leukemia: a study of 12 cases and review of literature. |
| D'Achille P, Seymour JF, Campbell, LJ. |
| Cancer Genet Cytogenet. 2006; 171 (1): 52-56. |
| PMID 17074591 |
| Contributor(s) |
| Written | 01-2007 | Siddharth G Adhvaryu, Alka Dwivedi, Peggy Stoll |
| Citation |
| This paper should be referenced as such : |
| Adhvaryu SG, Dwivedi A, Stoll P . A novel chromosomal translocation (6;14) (p22;q32) in a case of precursor B-cell Acute Lymphoblastic Leukemia. Atlas Genet Cytogenet Oncol Haematol. January 2007 . URL : http://AtlasGeneticsOncology.org/Reports/0614AdhvaryuID100020.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Apr 17 14:15:22 2008 |
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