Clinical features and chromosomal abnormality in Myelodysplastic Syndrome of the Refractory Anaemia Subtype

Aspectos clínicos e anormalidade cromossômica em Síndrome Mielodisplásica do Subtipo Anemia Refratária

IMAGES IN HEMATOLOGY IMAGENS EM HEMATOLOGIA

Clinical features and chromosomal abnormality in Myelodysplastic Syndrome of the Refractory Anaemia Subtype

Aspectos clínicos e anormalidade cromossômica em Síndrome Mielodisplásica do Subtipo Anemia Refratária

Manoela M. Ortega^I; Marcia T. Delamain^II; Irene Lorand-Metze^III; Sara T. O. Saad^III; Fernando F. Costa^IV; Carmen S. P. Lima^V

^IAluna de Doutoramento do Departamento de Clínica Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^IIMédica Assistente do Hemocentro da Universidade Estadual de Campinas

^IIIProfessora Titular da Disciplina de Hematologia e Hemoterapia do Departamento de Clínica Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^IVProfessor Titular da Disciplina de Hematologia e Hemoterapia do Departamento de Clínica Médica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas

^VProfessora Doutora da Disciplina de Oncologia Clínica do Departamento de Clínica Médica da Faculdade de Ciências Médica, da Faculdade de Ciências Médicas da Unicamp

^{Correspondence}

Cytogenetic evaluation in myelodysplastic syndrome (MDS) has been considered important not only for clonality determination at diagnosis, but also for prognosis.¹ Recently, the International Prognostic Scoring System has proposed identified chromosomal abnormalities as one of the most important variables to determine survival and to predict the risk of transformation into acute leukaemia². Loss of material from chromosome 5 as a result of monosomy or deletion is quite common and occurs in 10-30% of patients with MDS who show chromosomal aberrations.³

The 5q- syndrome is a MDS with the 5q deletion as the sole karyotypic abnormality and is characterised by refractory macrocytic anaemia, hypolobulated megakaryocytes in bone marrow, and a low risk of transformation to acute myeloid leukaemia.⁴ This group of patients has a favourable prognosis compared with groups who have other chromosomal aberrations.⁵

Herein, we present for educational purposes, the image obtained from a bone marrow sample and the karyotype of a MDS case with 5q- syndrome seen at the Haematology and Haemotherapy Centre of the State University of Campinas. The patient, an 82-year-old woman, presented mild macrocytic anaemia (Hb: 9.1g/dL, Ht: 25.8%, MCV: 94.0fL, MCH: 29.9pg, reticulocyte: 3.0x10⁶/L) with normal leukocyte (4.6x10⁹/L) and platelet (316.0x10⁹/L) counts.

The bone marrow cytologic and histologic evaluations showed hypercellularity of the erythroid, granulocytic and megakaryoblastic lineages, with atypical erythroblasts and a great number of small and hypolobulated megakaryocytes (Figure 1). The karyotype was 46,XX,del(5)(q13q33) (Figure 2).

The patient has been seen in our service for two years, without red blood cell transfusions or transformation to acute leukaemia.

Bibliographic References

1. Anastasi J, Feng J, Le Beau MM et al: Cytogenetic clonality in myelodysplastic syndrome studied with fluorescence in situ hybridization: lineage, response to growth factor therapy, and clone expansion. Blood 1993;81:1.580-5.

2. Greenberg P, Cox C, Le Beau et al. International scoring system for evaluating prognosis in myelodysplastic syndrome. Blood 1997;89:2.079-88.

3. Boultwood J, Fidler C. Chromosomal deletions in myelodysplasia. Leuk Lymphoma 1995;17:71-8.

4. Boultwood J, Lewis S, Wainscoat JS et al. The 5q- syndrome. Blood 1994;84:3.252-60.

5. Van den Berghe H, Michaux L. 5q-, twenty-five years later: a synopsis. Cancer Genet Cytogenet 1997;94:1-7.

Recebido: 10/06/2004

Aceito: 31/08/2004

Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Campinas, São Paulo, Brazil

Avaliação: Editor e dois revisores externos.

Conflito de interesse: não declarado

Publication Dates

• Publication in this collection
  31 Mar 2005
• Date of issue
  2004