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%.

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 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)

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