Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in HAEMATOLOGY |
| A new case of t(8;14)(q11;q32) in an acute lymphoblastic leukemia |
| Written | 2003-05 | Benoit Quilichini, Helene Zattara, Franois Casalonga, Laure-Anne Bastide-Alliez, Catherine Curtillet, Chantal Fossat, Gérard Michel |
| Cytogenetic Oncology Laboratory : CHU Timone 264, rue Saint-Pierre 13385 Marseille cedex 5, France ; Tel : +33-491387402 ï Fax : +33-491384663 e-mail : Helene.Cannoni@mail.ap-hm.fr, Benoit.Quilichini@mail.ap-hm.fr |
| Clinics |
| Age and sex : | 13 year(s) old male patient. |
| Previous History : | no preleukemia |
| no previous malignant disease | |
| no inborn condition of note |
| Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement |
| Blood |
| WBC : 21 x 109/L ; Hb : : g/dL (9.1); platelets : 32 x 109/L; blasts : 79 % . |
| Bone marrow : 97 |
| Cyto pathology classification |
| Cytology : neutrophils : 11 %; eosinophils : 0 %; basophils : 0%; lymphocytes : 9 %; monocytes : 1% |
| Immunophenotype : HLA DR+ (high), CD34+ (high), CD10+ (low), CD19+ (high), c mu -, CD79a+ (high). Blasts were myeloperoxydase negative. |
| Precise diagnosis : Diagnosis of precursor B-cell acute lymphoblastic leukemia (WHO classification), LAL-B II (EGIL classification). |
| Survival |
| Date of diagnosis: 04-2003 |
| Complete remission was obtained |
| Karyotype |
| Sample : Blood and bone marrow. ; culture time : Overnight unstimulated culture ; banding : R-BANDING |
| Results : 45, X, - Y, t(8;14)(q11;q32) [ 16 ] / 46, XY [ 4 ] |
| Other molecular cytogenetics technics : 1- Fluorescence in situ hybridization ( FISH ) was performed using a probe specific for the IgH locus (14q32) and a chromosome 8 specific labelled Spectrum Orange painting probe ( Abott ) according to the manufacturer's instructions. FISH confirmed translocation t (8 ;14)(q11;q32) and reveals an IgH rearrangement (Figure 3). 2- FISH was performed using a chimeric X/Y direct labelled coktail probe (Qbiogene) according to the manufacturer's instructions. FISH confirmed the loss of chromosome Y in 90% on interphase cells (data not shown). |
| Other molecular studies |
| results : BCR/ABL : negative TEL /AML1 : negative MLL gene : no rearrangement |
 |
| Figure 1: Bone marrow (MGG-stained ) x 50: Increased cellularity, no megakaryocyte. Blasts : 97 % ; Neutrophils : 3%. |
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| Figure 2: Karyotype ( R-bands) : 45, X, -Y, t(8;14)(q11;q32). |
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| Figure 3: Fluorescence in situ hybridization using WCP 8 probe ( Spectrum Orange) and LSI-IgH locus probe ( FITC): partial karyotype results ( R-banding and FISH ). |
| Comments |
| To our knowledge, the number of t(8 ;14)(q11;q32) cases reported in the literature is 44. In 10 cases, it was the sole acquired abormality. In 34 cases, the t(8;14)(q11;q32) is associated with others numerical or structural abnormalities. 12 patients showed a constitutional trisomy 21. This case, an eleven year old boy represents an additional case. He does not present Down syndrome (this association is further strengthened). Using EGIL classification, bone marrow immunophenotypage classified this case as a common ALL (negative c mu and CD10 positive expression though a low level). It is the first report showing association of a t(8 ;14)(q11 ;q32) and loss of chromosome Y. Splitting of the IgH gene was demonstrated in our case by FISH technique. As in translocations described in leukemias and lymphomas implicating the locus 14q32, the rearrangement could be crucial in this leukemic event. The breakpoint at 8q11 has not yet been cloned. |
| Internal links |
| Atlas Card | t(8;14)(q11;q32) |
| Case Report | A case of pre-B ALL with t(8;14)(q11;q32) |
| Case Report | A case of Down syndrome with acute lymphoblastic leukemia and t(8;14)(q11;q32) |
| Bibliography |
| Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). |
| Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, van't Veer MB |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (10) : 1783-1786. |
| PMID 7564526 |
| World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. |
| Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, Lister TA, Bloomfield CD |
| Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1999 ; 17 (12) : 3835-3849. |
| PMID 10577857 |
| Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group Study. |
| Kaleem Z, Shuster JJ, Carroll AJ, Borowitz MJ, Pullen DJ, Camitta BM, Zutter MM, Watson MS |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (2) : 238-240. |
| PMID 10673739 |
| Acute lymphoblastic leukemia characterized by t(8;14)(q11.2;q32). |
| Moore S, Suttle J, Bain S, Story C, Rice M |
| Cancer genetics and cytogenetics. 2003 ; 141 (1) : 1-4. |
| PMID 12581891 |
| Acute lymphoblastic leukemia characterized by t(8;14)(q11.2;q32). |
| Moore S, Suttle J, Bain S, Story C, Rice M |
| Cancer genetics and cytogenetics. 2003 ; 141 (1) : 1-4. |
| PMID 12581891 |
| Acute lymphoblastic leukemia characterized by t(8;14)(q11.2;q32). |
| Moore S, Suttle J, Bain S, Story C, Rice M |
| Cancer genetics and cytogenetics. 2003 ; 141 (1) : 1-4. |
| PMID 12581891 |
| Citation |
| This paper should be referenced as such : |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Reports/814QuilichiniID100007.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Aug 16 13:43:51 CEST 2018 |
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