1/7. The role of trisomy 8 in the pathogenesis of chronic eosinophilic leukemia.A case of chronic eosinophilic leukemia (CEL) manifesting as spinal cord compression by an extradural eosinophilic chloroma in a 32-year-old Chinese man was presented, who subsequently developed extramedullary transformation at the skin and then peritoneal cavity. Cytogenetic study of bone marrow cells at diagnosis showed a clonal karyotypic abnormality of trisomy 8 ( 8), which on fluorescence in situ hybridization (FISH) was shown to be present in a clone of abnormal eosinophils, hence showing the neoplastic nature of the eosinophilic proliferation. There was another population of abnormal eosinophils that did not show 8. At blastic transformation, all blast cells in ascitic fluid were shown by FISH to harbor 8. These findings suggest that 8 in this case may have arisen from clonal evolution and is not the primary genetic event in leukemogenesis, but 8 most probably imparts a further survival advantage to the clone responsible for subsequent blastic transformation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/7. Multilineage involvement in hypereosinophilic syndrome terminating in granulocytic sarcoma and leukaemic transformation with trisomy 8.We report a patient with hypereosinophilic syndrome (HES), which, 8 years later, transformed into granulocytic sarcoma in the brain and, subsequently, into acute myelocytic leukaemia. Repeated chromosome analyses showed a normal karyotype, until the time of leukaemic transformation when trisomy 8 was confirmed in cells from the bone marrow and cerebrospinal fluid. The combined techniques of May-Grunwald-Giemsa staining and fluorescence in situ hybridization identified trisomy 8 not only in blasts and eosinophils but also in neutrophils and erythroblasts. Our observation suggests that HES is a multilineage myeloproliferative disorder involving precursors of at least the eosinophil, neutrophil and erythroid lineages.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/7. t(5;9)(q11;q34): a novel familial translocation involving Abelson oncogene and association with hypereosinophilia.A 6-year-old girl with hypereosinophilia was found to have a familial constitutional translocation t(5;9)(q11;q34). flow cytometry and gene rearrangement studies did not show any clonal T-helper cell proliferation. Presence of cryptic philadelphia translocation was ruled out by reverse transcription polymerase chain reaction. Abelson oncogene translocation on chromosome 5 was confirmed by fluorescent in situ hybridization. This is the first example of a familial translocation involving the abelson oncogene and association with hypereosinophilia. The authors discuss a novel mechanism of hypereosinophilia involving the hybrid product of the abelson oncogene with an unknown partner gene on chromosome 5 (probably granzyme-A).- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/7. Response to imatinib mesylate in a patient with idiopathic hypereosinophilic syndrome associated with cyclic eosinophil oscillations.A 26-year-old man with idiopathic hypereosinophilic syndrome (HES) was treated with imatinib mesylate following a 5-year history of prednisolone therapy. The patient had hypereosinophilia (absolute eosinophil counts >1500/microL) occurring in cyclic oscillations as well as histologically diagnosed eosinophilic vasculitis, bursitis, and periodic soft-tissue swellings. Laboratory data revealed high levels of serum tryptase and increased numbers of mast cells in the bone marrow, but serum interleukin 5 levels were within the normal range. The disease initially responded well to 100 mg/day of imatinib mesylate but recurred 8 weeks later. Thereafter, a daily 200-mg dose was temporarily effective. Despite the response to imatinib, the FIP1L1-PDGFRA fusion gene was not detected by fluorescence in situ hybridization analysis. Additional molecular and cytogenetic studies showed neither translocations of platelet-derived growth factor receptor (PDGFR) genes nor mutations in the c-KIT or the PDGFR genes. Although imatinib mesylate is a choice of treatment for patients with HES, its precise molecular mechanism in individual cases remains to be clarified.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/7. Refractory anaemia with hypereosinophilia and clonal abnormal metaphases detected only in the neutrophilic granulopoietic series.We report a case with refractory anaemia terminating in an acute leukaemia, which showed from the very beginning an intense eosinophilia that lasted for the whole disease, and in which the eosinophilic metaphases, as documented by the 'Morphology, Antibody, Chromosome' technique, were normal. An unusual karyotypic anomaly in the setting of a myelodysplastic syndrome could only be detected in the neutrophilic series. A general approach to detect structural aberrations of specific human chromosomes in metaphase cells by chromosomal in situ suppression hybridization of dna libraries from sorted human chromosomes has been applied for chromosomes 11, 3 and 2, in order to identify an extra copy of chromosome 2.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/7. A case of philadelphia-negative, M-BCR rearranged eosinophilic leukaemia with trisomy 8 localized by in situ hybridization.A case of Ph-negative M-BCR rearranged eosinophilic leukaemia with clonal cytogenetic abnormalities is presented. In addition to involvement of the short arm of chromosome 12 (12p12?13), the malignant nature of the eosinophils was confirmed by the demonstration of trisomy 8 by in situ hybridization.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
7/7. Myelodysplastic syndrome with hypereosinophilia and a nonrandom chromosomal abnormality dic(1;7): confirmation of eosinophil clonal involvement by fluorescence in situ hybridization.We report a case of de novo myelodysplastic syndrome (MDS) with hypereosinophilia and dic(1;7) in which eosinophil clonal involvement was confirmed by fluorescence in situ hybridization. There have been two previous reports in the literature of eosinophilic MDS with dic(1;7) or t(1;7) in which eosinophil clonality was demonstrated. The specific breakpoints on chromosomes 1 and 7 differ in the three cases, making it difficult to implicate disruption of a single gene as causative; nevertheless, the nonrandom occurrence of t(1;7) or dic(1;7) with malignant eosinophilic proliferations suggests that this chromosomal rearrangement is involved in the etiology of the disease.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |