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Eosinophil chimerism in the differential diagnosis between DEK-NUP214-positive acute myeloid leukaemia relapse and chronic graft-versus-host disease
  1. Clarissa Lima e Moura de Souza1,
  2. Carolina Bonet Bub1,
  3. Margareth Afonso Torres1,
  4. Elvira Deolinda Rodrigues Pereira Velloso1,
  5. Paulo Augusto Achucarro Silveira1,
  6. Rodolfo Patussi Correia1,
  7. Nydia Strachman Bacal1,
  8. Cristovão Luis Pitangueira Mangueira1,
  9. Juliana Folloni Fernandes2,
  10. Vicente Odone Filho2,
  11. Nelson Hamerschlak3,
  12. Paulo Vidal Campregher1,3
  1. 1Clinical Laboratory, Hospital Israelita Albert Einstein, São Paulo, Brazil
  2. 2Department of Pediatric Oncology, Hospital Israelita Albert Einstein, São Paulo, Brazil
  3. 3Hematology Department, Hospital Israelita Albert Einstein, São Paulo, Brazil
  1. Correspondence to Dr Paulo Vidal Campregher, Centro de Pesquisa Clínica, Instituto Israelita de Ensino e Pesquisa Albert Einstein, Av. Albert Einstein, 627/520, São Paulo, SP, CEP 05256-900, Brazil; paulo.campregher{at}einstein.br

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Introduction

Eosinophilia is a rare, recurrent finding in acute myeloid leukaemia (AML). The classic cases include core-binding factor AMLs with chromosome 16 abnormalities and AMLs with rearrangements of the platelet derived growth factor (PDGF) receptor A and B genes (PDGFRA and PDGFRB) and the fibroblast growth factor receptor 1 gene (FGFR1). AML with t(6;9)(p23;q24) is a rare entity (0.7%–1.8% of all AMLs), characterised by multilineage dysplasia, basophilia and an unfavourable prognosis.1–3 This cytogenetic alteration leads to the formation of the DEK-NUP214 hybrid protein, and usually presents as a single abnormality, but it can also be associated with a complex karyotype.4 There are currently no descriptions of eosinophilia associated with DEK-NUP214+ AML.

Case presentation

We report the case of a 16-year-old male patient who presented with generalised cutaneous pruritus and fever, associated with peripheral blood eosinophilia (absolute count 7830 cells/μL) in August 2010. After ruling out common causes of secondary eosinophilia, the patient was submitted to bone marrow aspiration, which showed erythroid hyperplasia (58.8%) with dyserythropoiesis, eosinophilia (16.4%), dysgranulopoiesis and 9.6% blast cells. These findings were compatible with the diagnosis of AML-M6, according to the French–American–British classification. A cytogenetic study showed the presence of t(6;9) (p23;q34) as the sole anomaly. Fluorescence in-situ hybridisation (FISH) was negative for inv(16), and molecular studies showed wild-type sequences for the fms-related tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1). FISH was also negative for PDGFRA rearrangement.

The patient was treated with two cycles of cytarabine-based chemotherapy, achieving haematological remission; nevertheless, peripheral …

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