Calla-Positive Acute Leukaemia with t(5q;14q) Translocation and Hypereosinophilia – A Unique Entity?

Department of Paediatrics, Free University, Berlin.
Acta Haematologica (Impact Factor: 1.12). 02/1989; 82(2):85-90. DOI: 10.1159/000205289
Source: PubMed


A patient with common acute lymphoblastic leukaemia (ALL), hypereosinophilic syndrome and t(5;14) (q31.1;q32.3) translocation is described. Even with intensive treatment only short periods of complete remission were achieved. Recurrence of the leukaemia was always accompanied by the appearance of eosinophilic granulocytes in the blood and in the bone marrow. Although there is no experimental proof we assume that the hypereosinophilic syndrome is causally related to the chromosome aberration. Translocation of the GM-CSF gene from chromosome No. 5 to chromosome No. 14, might have led to the deregulation of the gene by enhancer sequences of the immunoglobulin heavy-chain region on chromosome No. 14, with the consequence of an overproduction of neutrophilic and particularly eosinophilic granulocytes. Furthermore, stimulation of the leukaemic cell clone may have occurred by this translocation. The similarity of the clinical course with cases described in the literature suggests that this condition is a unique entity of ALL.

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    • "One case of acute lymphoblastic leukaemia with peripheral hypereosinophilia was found to have 9p21 deletion [12], on cytogenetic analysis. As discussed earlier, a common cytogenetic abnormality detected in most cases of precursor B acute lymphoblastic leukaemia with hypereosinophilia is t(5;14), which disappears during remission and reappears in relapse [13,14]. In the latter translocation, eosinophilia was secondary to overproduction of interleukin-3 by the blasts, due to activation of interleukin-3 gene on chromosome 5 after its translocation adjacent to the immunoglobulin heavy chain gene on chromosome 14 [5]. "
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    ABSTRACT: Patients suffering from adult acute lymphoblastic leukemia are acutely ill and present most commonly with fever, pallor, bleeding, lymphadenopathy, hepatosplenomegaly and presence of lymphoblasts in the peripheral blood and bone marrow. We describe a rare presentation of acute lymphoblastic leukemia, in a young adult male who had vague and minimal symptoms with mild splenomegaly. There was severe eosinophilia along with absence of blasts in the peripheral blood, and 40% blasts with increase in eosinophils in the bone marrow. The blasts were positive for common precursor B cell markers on flow cytometry. The patient had a unique cytogenetic abnormality t(7;12)(q22;p13),-9, not previously described in acute lymphoblastic leukemia. He was categorized as poor risk due to failure to achieve complete remission after induction with UK ALL XII chemotherapy.
    Journal of Hematology & Oncology 07/2009; 2(1):26. DOI:10.1186/1756-8722-2-26 · 4.81 Impact Factor
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    • "The observation of genetic linkage to 5q31-q33 suggests that the latter chromosomal variation is unrelated to HES. Linkage to the 5q31-q33 region may be supported further by several reports of chromosomal abnormalities involving 5q31-q33 in patients with eosinophilia associated with malignancies, such as chronic myelomonocytic leukemia, acute lymphocytic leukemia, and myelodysplastic or myeloproliferative syndromes (Hogan et al. 1987; Baumgarten et al. 1989; Berkowicz et al. 1991; Yates and Potter 1991; Baranger et al. 1994; Jani et al. 1994; Matsushima et al. 1994). This also may suggest that the FE gene, or another gene located in 5q31-q33, potentially could play a role in the eosinophilia associated with these neoplastic syndromes. "
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    ABSTRACT: Familial eosinophilia (FE) is an autosomal dominant disorder characterized by peripheral hypereosinophilia of unidentifiable cause with or without other organ involvement. To localize the gene for FE, we performed a genomewide search in a large U.S. kindred, using 312 different polymorphic markers. Seventeen affected subjects, 28 unaffected bloodline relatives, and 8 spouses were genotyped. The initial linkage results from the genome scan provided evidence for linkage on chromosome 5q31-q33. Additional genotyping of genetic markers located in this specific region demonstrated significant evidence that the FE locus is situated between the chromosome 5q markers D5S642 and D5S816 (multipoint LOD score of 6.49). Notably, this region contains the cytokine gene cluster, which includes three genes-namely, those for interleukin (IL)-3, IL-5, and granulocyte/macrophage colony-stimulating factor (GM-CSF)-whose products play important roles in the development and proliferation of eosinophils. These three cytokine genes were screened for potential disease-specific mutations by resequencing of a subgroup of individuals from the present kindred. No functional sequence polymorphisms were found within the promoter, the exons, or the introns of any of these genes or within the IL-3/GM-CSF enhancer, suggesting that the primary defect in FE is not caused by a mutation in any one of these genes but, rather, is caused by another gene in the area.
    The American Journal of Human Genetics 11/1998; 63(4):1086-94. DOI:10.1086/302053 · 10.93 Impact Factor
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    ABSTRACT: Many disease states such as parasitic infestations, malignancies, collagen vascular diseases, and allergies are associated with eosinophilia. The diagnosis of idiopathic hypereosinophilic syndrome (HES) requires a persistent elevation in the total eosinophil count (greater than 1500/mm3) for over 6 months, associated organ damage and no detectable underlying cause. This review provides an updated summary of the cytokine cascade that controls eosinophil production and delineates our current understanding of the clinical features of hypereosinophilic states. We also examine the central role of T-lymphocyte activation in eosinophilia, and have attempted to integrate current treatment strategies for HES with the physiology of eosinophilopoiesis.
    Blood Reviews 04/1991; 5(1):29-37. DOI:10.1016/0268-960X(91)90005-W · 5.57 Impact Factor
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