Refractory Anaemia with Hypereosinophilia and Clonal Abnormal Metaphases Detected only in the Neutrophilic Granulopoietic Series

Pérez-Losada, A.; Woessner, S; Solé, Françesc; Florensa, Lourdes; Grañena, A

doi:10.1159/000204259

Cited by 7 publications

(4 citation statements)

References 6 publications

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“…Therefore, the diagnosis of MDS-Eo requires careful exclusion of other hematological disorders. To our knowledge, clonal eosinophilia with MDS has been previously reported in 5 cases [2, 3, 4, 5, 6]. In the case presented here, chromosomal aberration was identified in eosinophilic metaphase spreads by means of simple Giemsa staining, thus indicating that eosinophilia in our case was clonal proliferation.…”

Section: Introductionsupporting

confidence: 52%

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Myelodysplastic Syndrome with Clonal Eosinophilia Accompanied by Eosinophilic Pulmonary Interstitial Infiltration

et al. 2000

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We report a case of de novo myelodysplastic syndrome with clonal eosinophilia (MDS-Eo) and eosinophilic pulmonary interstitial infiltration, confirmed by autopsy. Cytogenetic study using Giemsa banding identified 47,XY,+1,der(1;7)(q10;p10),+8 in the marrow cells. Simple Giemsa staining revealed the same chromosomal aberration in metaphase spreads with eosinophilic granules, indicating the clonal proliferation of eosinophils. To our knowledge, our case is the 6th reported case of MDS-Eo with cytogenetically confirmed clonal eosinophilia, and the first autopsy of MDS-Eo. A review of the literature combined with our findings suggests that this type of chromosomal aberration might be involved in the as yet unknown pathogenesis of MDS-Eo.

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Section: Introductionsupporting

confidence: 52%

“…Eosinophilia also occurs in association with MDS and this condition has been termed MDS with eosinophilia or eosinophilic MDS (MDS-Eo) [1]. Cytogenetically proven clonal proliferation of eosinophils has been reported in 5 previous MDS-Eo patients [2, 3, 4, 5, 6]. …”

Section: Discussionmentioning

confidence: 99%

Myelodysplastic Syndrome with Clonal Eosinophilia Accompanied by Eosinophilic Pulmonary Interstitial Infiltration

et al. 2000

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“…28,29 However, this is not always the case. 30,31 Eosinophil and basophil differentiation is promoted by many cytokines, which may be secreted by neoplastic myeloid cells (reactive eosinophilia and basophilia). Cytologic features are generally unreliable in distinguishing between reactive and neoplastic conditions.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and clinical characteristics of myelodysplastic syndrome with bone marrow eosinophilia or basophilia

Maekawa

Handa

Yokohama

et al. 2003

Blood

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By retrospectively analyzing 288 patients with de novo myelodysplastic syndrome (MDS), we sought to determine the prevalence and clinical characteristics of bone marrow eosinophilia and basophilia that were detected at presentation. Bone marrow eosinophilia and basophilia were defined as a differential count of each cell type exceeding 5.0% and 1.0%, respectively. Of 288 patients with MDS, 36 (12.5%) fulfilled this criterion for bone marrow eosinophilia (MDS-Eos); 34 patients (11.8%) showed basophilia (MDS-Bas), and 11 (3.8%) satisfied both criteria (MDSEosBas). The remaining 229 patients had neither eosinophilia nor basophilia in their bone marrow (MDS ؊/؊ ) at presentation. Cytogenetic analysis was carried out on unstimulated bone marrow cells obtained from 264 patients. When the cytogenetic categorization of the IPSS (International Prognostic Scoring System) for MDS was applied, significantly higher numbers of MDS-Eos and MDS-Bas patients had chromosomal abnormalities carrying intermediate or poor prognosis, compared with the MDS ؊/؊ patients. Specific chromosomal abnormalities and complex karyotypes were associated with MDS-Eos and/or MDS-Bas. In accordance with these results, the overall survival rate was significantly lower, and the evolution to acute myelogenous leukemia (AML) occurred more frequently in the MDS-Eos and MDSBas than in the MDS ؊/؊ patients. Multivariate analysis demonstrated that bone marrow basophilia was an independent risk factor for evolution to AML. Our study indicates that bone marrow eosinophilia and basophilia in patients with MDS predict a poorer prognosis. (Blood. 2003;

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“…It is generally assumed that, when a clonal cytogenetic abnormality has been demonstrated in a MDS/MPD with eosinophilia, these cells are part of the neoplastic clone. However, this is not always true, [16][17][18] and only rarely has the clonality of the eosinophils been clearly established. 19 As seen in Figure 2, eosinophils are readily identified on the basis of the autofluorescence of eosinophilic granules, a feature that is unique among cells of the granulocytic series.…”

mentioning

confidence: 99%

Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib

Wilkinson

Velloso

Lopes

et al. 2003

Blood

113

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Eosinophilia is common in myeloproliferative disorders (MPDs) with abnormalities of chromosome band 5q31-33, including those that present with t(1; 5)(q23;q33). With the development of rational drug therapy, characterization of the molecular targets for these translocations could guide treatment and affect patient survival. We cloned the t(1; 5)(q23;q33) and showed that it fuses platelet-derived growth factor receptor beta (PDGFRB) to the coiled-coil domains of a novel partner protein, myomegalin. Using two-color interphase fluorescence in situ hybridization (FISH), we also demonstrated that the eosinophils are clonal in these disorders. Imatinib mesylate has recently been shown to be efficacious in MPDs with PDGFR activation. Therefore, following our molecular studies, we were able to redirect this patient's treatment. Although she had refractory and progressive disease, once imatinib was started, complete clinical and hematologic remission, as well as major cytogenetic response, was achieved. Given the therapeutic implications, our findings stress the need to aggressively investigate the molecular basis of these diseases, with emphasis on the PDGFR family. IntroductionThe cloning of genes affected by recurrent chromosomal translocations has furthered our understanding of the molecular basis of hematologic malignancies and allowed the development of molecular assays that have improved diagnosis and monitoring of therapy. It has also led to the development of rational targeted drug therapy, including the specific tyrosine kinase inhibitor, imatinib mesylate 1 (Gleevec; Novartis, Basel, Switzerland).Eosinophilia is common in several myeloproliferative disorders (MPDs), notably chronic myeloid leukemia (CML) and the 8p11 myeloproliferative syndrome. 2,3 Less common causes of eosinophilia include MPDs associated with translocations that involve chromosome band 5q31-33. 4 Cloning of these translocations 4-9 showed that they consistently target the PDGFRB gene. In all cases, partner genes contribute oligomerization domains that constitutively activate the tyrosine kinase of plateletderived growth factor receptor beta (PDGFRB). Recently, cryptic deletions of chromosome 4q12 resulting in activation of PDGFRA were found in cases of hypereosinophilic syndrome (HES), 10 suggesting that activation of the PDGFR receptor tyrosine kinase family is a common theme in this phenotypically similar collection of disorders.Of the MPDs with eosinophilia, one unique subgroup presents with a t(1;5)(q23;q33). 11,12 Here, we describe the molecular cloning of this translocation and the clinical/ translational consequences of this finding. Study designAn 11-month-old girl presented with malaise, poor feeding, and hepatosplenomegaly. The initial blood count was hemoglobin (Hb) 60 g/L (6.0 g/dL), white blood cell (WBC) count 43.9 ϫ 10 9 /L with a neutrophilic left shift, marked eosinophilia, monocytosis, and thrombocytopenia. After a bone marrow examination, the diagnosis of an myelodysplastic syndrome (MDS)/MPD syndrome with eosinophilia w...

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Refractory Anaemia with Hypereosinophilia and Clonal Abnormal Metaphases Detected only in the Neutrophilic Granulopoietic Series

Cited by 7 publications

References 6 publications

Myelodysplastic Syndrome with Clonal Eosinophilia Accompanied by Eosinophilic Pulmonary Interstitial Infiltration

Myelodysplastic Syndrome with Clonal Eosinophilia Accompanied by Eosinophilic Pulmonary Interstitial Infiltration

Prevalence and clinical characteristics of myelodysplastic syndrome with bone marrow eosinophilia or basophilia

Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib

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