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1.
Recurrent translocation t(8;21)(q22;q22) acute myeloid leukemia (AML) is often associated with secondary chromosome changes of which the clinical significance is not clear since they do not seem to impair the prognosis. Uncommon chromosome changes may lead to the identification of leukemogenetic factors associated with t(8;21) since the AML1/RUNX1-ETO fusion gene resulting from the translocation is thought to be unable alone to induce leukemia. We here report a patient with AML, t(8;21) and ring chromosome 8 resulting in partial chromosome 8 deletion. Another patient with partial 8q deletion has been previously reported. It is suggested that more attention be paid to the genes located in distal 8q in relation to leukemogenesis. 相似文献
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A patient with acute myeloblastic leukemia (AML) and karyotypic abnormality mimicking t(8;21) is reported. Because of the uncommon morphology of blasts for AML with t(8;21), and absence of AML1-ETO fusion in the RT-PCR analysis, fluorescence in situ hybridization (FISH) was applied to precise the abnormality. FISH revealed a complex rearrangement involving chromosomes 7, 21 and 8, and involvement of the AML1 gene without evidence of AML1-ETO fusion. This case of unusual AML illustrates the necessity of collecting all hematologic, cytogenetic, and eventual FISH and RT-PCR data to analyse genetic rearrangements in leukemic patients. 相似文献
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Stuardo M Martinez M Hidalgo K Montecino M Javed A Lian JB Stein GS Stein JL Gutiérrez SE 《Journal of cellular physiology》2009,218(2):343-349
The RUNX1/AML1 gene is the most frequent target for chromosomal translocation, and often identified as a site for reciprocal rearrangement of chromosomes 8 and 21 in patients with acute myelogenous leukemia. Virtually all chromosome translocations in leukemia show no consistent homologous sequences at the breakpoint regions. However, specific chromatin elements (DNase I and topoisomerase II cleavage) have been found at the breakpoints of some genes suggesting that structural motifs are determinant for the double strand DNA-breaks. We analyzed the chromatin organization at intron 5 of the RUNX1 gene where all the sequenced breakpoints involved in t(8;21) have been mapped. Using chromatin immunoprecipitation assays we show that chromatin organization at intron 5 of the RUNX1 gene is different in HL-60 and HeLa cells. Two distinct features mark the intron 5 in cells expressing RUNX1: a complete lack or significantly reduced levels of Histone H1 and enrichment of hyperacetylated histone H3. Strikingly, induction of DNA damage resulted in formation of t(8;21) in HL-60 but not in HeLa cells. Taken together, our results suggest that H1 depletion and/or histone H3 hyperacetylation may have a linkage with an increase susceptibility of specific chromosomal regions to undergo translocations. 相似文献
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Advancement in genetic and molecular biology techniques has greatly helped our understanding of various diseases, especially hematological disorders. We describe a case of primary myelofibrosis (PMF) that transformed into acute myeloid leukemia with a very rare and unusual genetic translocation of (1;21). There are only five reported cases of this translocation in acute myeloid leukemia (AML) or myelodysplastic syndrome but none of them transformed from PMF. This case not only highlights the importance of rare genetic translocations but also provides the natural history of the disease and its poor prognosis. To the best of our knowledge our patient is the first reported case of AML transformed from PMF to have this unique translocation of (1;21). 相似文献
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Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt''s lymphoma with t(8;22) 总被引:7,自引:4,他引:7 下载免费PDF全文
A de la Chapelle G Lenoir J Boué A Boué P Gallano C Huerre M F Szajnert M Jeanpierre J M Lalouel J C Kaplan 《Nucleic acids research》1983,11(4):1133-1142
By in situ hybridization of normal human chromosomes with a cloned genomic probe specific for the constant region of the lambda immunoglobulin genes, band 22q11 was preferentially labelled. In two cell lines with t(8;22) derived from Burkitt's lymphoma a strong signal was noted on the 8q+ chromosome derivative, indicating that the constant region of the lambda Ig gene cluster was translocated from chromosome 22 to chromosome 8. In addition, the signal observed on the 22q- derivative chromosome was stronger than the background in one of the two cell lines tested, but not in the other. The implications are that the break point in chromosome 22 in some cases lies within the Ig gene itself or between clusters of such genes, and that different cases have different break points. 相似文献
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A balanced reciprocal translocation, t(15;21) (q262;q21) was observed in the mother and maternal grandfather of two patients. The propositus, who received the abnormal chromosome 15 from his mother, is trisomic for the distal part of chromosome 21, and his phenotype is that of classical trisomy 21. His sister, who is trisomic for the proximal part of 21q, is slightly retarded but developmentally normal otherwise. 相似文献
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Summary A new translocation t(1;11;4)(1pter1p32::11q23 11q13::4p164qter) was found in the peripheral blood of a patient with congenital acute myeloblastic leukemia (AML). It was concluted that this translocation may represent a new mutation, which caused the leukemia with very high leukocytosis, hepatosplenomegaly, leukemic infiltration of the majority of the organs, and a very poor prognosis. 相似文献
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M. A. J. Weterman Monique Wilbrink Trijnie Dijkhuizen Eva van den Berg Ad Geurts van Kessel 《Human genetics》1996,98(1):16-21
A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization
(FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated
(X;1)(p11;q21) translocation. This breakpoint maps between several members of the S100 family which are clustered in the 1q21
region and a conserved region between man and mouse containing the markers SPTA1-CRP-APCS-FcER1A-ATP1A2-APOA2. The location
of the breakpoint coincides with the transition of a region of synteny of human chromosome 1 with mouse chromosomes 3 and
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Received: 10 November 1995 / Revised: 3 February 1996 相似文献
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Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia 总被引:2,自引:0,他引:2
R. N. Simmers J. Smith M. F. Shannon G. Wong A. F. Lopez E. Baker G. R. Sutherland M. A. Vadas 《Human genetics》1988,78(2):134-136
Summary The colony-stimulating factors regulate growth, differentiation, and function of blood cells. The effect of granulocyte colony-stimulating factor (G-CSF) on myeloid leukemias is unique among colony-stimulating factors in driving the leukemic cells from a self-renewing malignant state to a mature differentiated phenotype with the concomitant loss of tumorigenicity. This property of G-CSF has led to suggestions that its absence is responsible for lack of differentiation of leukemic cells and that the therapeutic administration of G-CSF could reverse this defect and result in a cure for leukemia. Here we show that the gene coding for human G-CSF is localized to chromosome 17, bands q11.2-21. The translocation of the long arm of chromosome 17 at q12-21 to chromosome 15 is a specific abnormality occurring in a high proportion of, if not all, patients with acute promyelocytic leukemia, a disease characterized by undifferentiated myeloid cells and a dismal prognosis. Abnormalities of the regulation of a specific differentiation factor gene mediated by a specific chromosomal rearrangement may be directly implicated in the pathogenesis of human leukemia. 相似文献
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Sheeja T. Pullarkat Vinod Pullarkat Steven H. Kroft Carla S. Wilson Arshad N. Ahsanuddin Karen P. Mann Maung Thein Wayne W. Grody Russell K. Brynes 《Journal of Hematopathology》2009,2(1):27-33
Although KIT mutations are present in 20–25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications. 相似文献
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The ETO protein disrupted in t(8;21)-associated acute myeloid leukemia is a corepressor for the promyelocytic leukemia zinc finger protein 总被引:11,自引:0,他引:11 下载免费PDF全文
Melnick AM Westendorf JJ Polinger A Carlile GW Arai S Ball HJ Lutterbach B Hiebert SW Licht JD 《Molecular and cellular biology》2000,20(6):2075-2086
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In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations 总被引:3,自引:0,他引:3
Using a combination of banding techniques, we examined two atypical 21;22 translocations, 46,XX or XY,t(21;22)(p11;q11). In situ chromosomal hybridization of a probe for the constant region of the lambda light chain locus demonstrated that the 22q11 breakpoints of both rearrangements were proximal to the C lambda gene cluster. These studies permitted us to distinguish the 22q11 breakpoints of these translocations from the breakpoint of the 22q--chromosome of chronic myelogenous leukemia. 相似文献
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Multiple tandem 18-kb sequences clustered in the region of the acute promyelocytic leukemia breakpoint on chromosome 17 总被引:3,自引:0,他引:3
This paper describes the cloning of an 18-kb sequence present in approximately 30 copies on chromosome 17. Most of these are clustered in the region of the breakpoint associated with acute promyelocytic leukemia (APL). These copies map both above and below the breakpoint, and pulsed field gel analysis indicates that the majority of these sequences lie within a region of approximately 2 megabases. The organization of these sequences appears to be that of large imperfect palindromes. 相似文献
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Rachid Zerrouki Traki Benhassine Mustapha Bensaada Patricia Lauzon Anissa Trabzi 《Genetics and molecular biology》2016,39(1):7-13
Many subtypes of acute lymphoblastic leukemia (ALL) are associated with specific chromosomal rearrangements. The complex translocation t(9;14;14), a variant of the translocation (14;14)(q11;q32), is a rare but recurrent chromosomal abnormality involving the immunoglobulin heavy-chain (IGH) and CCAAT enhancer-binding protein (CEBPE) genes in B-lineage ALL (B-ALL) and may represent a new B-ALL subgroup. We report here the case of a 5-year-old girl with B-ALL, positive for CD19, CD38 and HLA-DR. A direct technique and G-banding were used for chromosomal analysis and fluorescentin situ hybridization (FISH) with BAC probes was used to investigate a possible rearrangement of the IGH andCEBPE genes. The karyotype exhibit the chromosomal aberration 46,XX,del(9)(p21),t(14;14)(q11;q32). FISH with dual-color break-apartIGH-specific and CEPBE-specific bacterial artificial chromosome (BAC) probes showed a complex t(9;14;14) associated with a deletion of cyclin-dependent kinase inhibitor 2A (CDKN2A) and paired box gene 5 (PAX5) at 9p21-13 and duplication of the fusion gene IGH-CEBPE. 相似文献
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Odile Costa Pascale Schneider Laurent Coquet Philippe Chan Dominique Penther Elisabeth Legrand Thierry Jouenne Marc Vasse Jean-Pierre Vannier 《Clinical proteomics》2014,11(1):31