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CASE REPORTS in HAEMATOLOGY
A new case of t(8;14)(q11;q32) in an acute lymphoblastic leukemia
 
Written2003-05Benoit 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%.
Figure 2: Karyotype ( R-bands) : 45, X, -Y, t(8;14)(q11;q32).
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 Cardt(8;14)(q11;q32)
Case ReportA case of pre-B ALL with t(8;14)(q11;q32)
Case ReportA case of Down syndrome with acute lymphoblastic leukemia and t(8;14)(q11;q32)
Bibliography
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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.
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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
 

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