Translocation t(1;16) in Chronic Eosinophilic Leukaemia

Translocação t(1;16) em Leucemia Eosinofílica Crônica

IMAGES IN HEMATOLOGY IMAGENS EM HEMATOLOGIA

Translocation t(1;16) in Chronic Eosinophilic Leukaemia

Translocação t(1;16) em Leucemia Eosinofílica Crônica

Gustavo J. Lourenço^I; Lidiane C. Rueda^II; Manoela M. Ortega^III; Iramaia A. Néri^IV; Rosemeire A.V. Bognone^V; Carmen S.P. Lima^VI

^IAluno de mestrado do Depto. de Clínica Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^IIBióloga estagiária do Laboratório de Citogenética do Hemocentro da Universidade Estadual de Campinas

^IIIAluna de doutoramento do Depto. de Clínica Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^IVBióloga do Laboratório de Rotinas Hematológicas do Hemocentro da Universidade Estadual de Campinas

^VBióloga do Laboratório de Citogenética do Hemocentro da Universidade Estadual de Campinas

^VIProfessora Doutora da Disciplina de Oncologia Clínica do Depto. de Clínica Médica, da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^{Correspondence}

Chronic eosinophilic leukaemia (CEL) is a rare myeloproliferative disease in which clonal proliferation of eosinophil (Eo) precursors results in persistent increase of mature Eo in the bone marrow and peripheral blood.¹ Various chromosomal abnormalities have been reported in CEL,² especially aberrations of the long arm of the chromosome 5, involving breakpoints in the q31-35 region, where genes encoding for interleukin-3, interleukin-5, granulocyte macrophage-colony stimulating factor and platelet-derived growth factor b receptor are located.³

We present herein a case of CEL that presented a der(16)t(1;16). The patient was a 60-year-old female first referred to our unit in November 2000 due to skin lesions and leukocytosis with eosinophilia. At this time the peripheral blood examination showed: Hb: 15.2g/dl, WBC: 23.7x10³/µl (1% myelocytes, 3% metamyelocytes, 38% neutrophils, 45% eosinophils, 5% basophils, 6% lymphocytes and 2% of monocytes) and Platelets: 121.0x10³/µL.

Infiltration by mature Eo was seen by histological examination of a skin lesion. Bone marrow aspirate showed hypercellularity of the granulocytic lineage with 45% of mature Eo. The diagnosis of CEL was based on a blood sample and bone marrow aspirate and biopsy analysis using conventional criteria.⁴ The BCR-ABL transcript was negative by the conventional method of molecular analysis.⁵

The bone marrow cells were cultured for obtaining karyotype according to a conventional method.⁶ The karyotype 47,XX,der(16)(16q22+),+21 was identified in all analysed metaphases (Figure 1).

The t(1;16) was seen in all metaphases analysed by fluorescence in situ hybridisation (FISH), using a painting probe for chromosome 1 (WPC DNA Probe 1, Spectrum Orange) obtained from Vysis (Downers Grove IL, USA) (Figure 2).

The patient has been seen in our service for four years, under hydroxyurea (500 mg daily) therapy, without symptoms or transformation to a blastic crisis.

The t(1;16) is a frequent recurrent rearrangement in solid tumours such as breast carcinoma and Ewing's sarcoma,⁷ but it has very occasionally been described in haematological malignancies.^8,9 To the best of our knowledge, this chromosomal abnormality has not yet been described in CEL.

The gene CBFB is located in the 16q22 region and is implicated in the abnormal eosinophilopoiesis observed in acute myelomonocytic leukaemia with eosinophilia (M4Eo).¹⁰ Thus, we hypothesize that the same gene could have been involved in the origin of the patient's CEL disease.

References

1. Xiao Z, Hao Y, Qin T et al. Periodic oscillation of blood leukocytes, platelets, and hemoglobin in a patient with chronic eosinophilic leukemia. Leuk Res 2003;27:89-91.

2. Lepretre S, Jardin F, Buchonnet G et al. Eosinophilic leukemia associated with t(2;5)(p23;31). Cancer Genet Cytogenet 2002; 133:164-167.

3. Yakushijin K, Murayama T, Mizuno I et al. Chronic eosinophilic leukemia with unique chromosomal abnormality t(5;12)(q33;q22). Am J Hematol 2001;68:301-303.

4. Brito-Babapulle F. Clonal eosinophilic disorders and the hypereosinophilic syndrome. Blood Rev 1997;11:129-134.

5. Frenoy N, Chabli A, Sol O et al. Application of a new protocol for nested PCR to the detection of minimal residual bcr/abl transcripts. Leukemia 1994;8:1411-1414.

6. Swansbury GJ. Cytogenetic technique for human leukaemias. In: Pollard, JM, Walker, JM. Methods in Molecular Biology. Totowa: N.J., Human Press Inc., 1997, p.323.

7. Mugneret F, Lizard G, Aurias A et al. Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)(1;16). Cancer Genetics Cytogenetics 1988;32:239-245.

8. Mugneret F, Dastugue N, Favre B et al. Der(16)t(1;16)(q11;q11) in myelodysplastic syndromes: a new non-random abnormality characterised by cytogenetic and fluorescence in situ hybridisation studies. Br J Haematol 1995;90:119-124.

9. Ueshima Y, Fukuhana S, Nagai K, et al. Cytogenetic studies and clinical aspects of patients with plasma cell leukemia and leukemic macroglobulinemia. Cancer Res 1983;43:905-912.

10. Hindkjaer J, Hammoudah SAFM, Hansen KB et al. Translocation (1;16) identified by chromosome painting and primed in situ-labeling (PRINS). Cancer Genet Cytogenet 1995;79:15-20.

Recebido: 12/01/2005

Aceito: 02/02/2005

Avaliação: Editor e dois revisores externos.

Conflito de interesse: não declarado

Publication Dates

• Publication in this collection
  12 Sept 2005
• Date of issue
  Mar 2005