Cases reported "Translocation, Genetic"

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11/1378. Development of acute lymphoblastic leukemia with translocation (4;11) in a young girl with familial pericentric inversion 12.

    We report a case of a 1-year-old girl with familial pericentric inv(12) who developed acute lymphoblastic leukemia (ALL) with t(4;11) 1 month after recovery from idiopathic hemophagocytic lymphohistiocytosis (HLH). The inv(12)(p13q15) was first found in bone marrow (BM) cells when she was diagnosed as having HLH, and then detected in the BM blasts together with t(4;11)(q21;q23) when she developed ALL. The inv(12) was retained in the BM cells after she achieved complete remission. cytogenetic analysis on the PHA-stimulated peripheral lymphocytes revealed inv(12) in all of the 30 cells examined. Because the data that ALL with t(4;11) predicts an extremely poor prognosis, she received an allogeneic BM transplantation from an HLA-matched sibling at 10 months from the onset of ALL. She is now at 26 months post transplantation and maintains in a state of complete remission. Familial cytogenetic study demonstrated that 4 of 8 maternal members examined had the inv(12), but they showed no family history of a higher risk of development of hematological and other types of malignancies, suggesting that pericentric inv(12) itself might not be directly involved in the development of ALL in this case.
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12/1378. Transfusion with blood from a donor with chronic myelogenous leukemia: persistence of the bcr/abl translocation in the recipient.

    BACKGROUND: Transfusion of cells harvested from patients with chronic myelogenous leukemia (CML) as a therapeutic measure for patients with granulocytopenia was popular in the 1970s, when studies examining the persistence of transfused donor cells were limited by a lack of molecular techniques. Blood samples from a patient who recently received an inadvertent transfusion of CML cells were evaluated for the presence of the bcr/abl translocation characteristic of CML. CASE REPORT: The patient, a 67-year-old man with a history of congestive heart failure, myocardial infarct, hypertension, diabetes mellitus, and chronic renal failure, was transfused for bleeding from colonic angiodysplasia. A volunteer blood donor reported that he had been diagnosed with CML 10 days after his donation. Three days after the donation, blood components from the donor with CML had been administered to the patient as nonirradiated red cells and platelets. Evaluation of donor blood by a reverse-transcriptase polymerase chain reaction showed the b3a2 transcript, indicating a bcr/abl translocation. Periodic testing of the patient's peripheral blood by the same technique demonstrated the presence of the b3a2 transcript on Days 74 and 75 after transfusion. The patient died of congestive heart failure 8 months after the transfusion. CONCLUSION: In this rare case of accidental transfusion of neoplastic cells, the findings document the persistence of the donor's neoplastic clone in the recipient for 75 days.
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13/1378. Aml1/ETO and Pml/RARA rearrangements in a case of AML-M2 acute myeloblastic leukemia with t(15;17).

    We report a case of acute myeloid leukemia FAB-type 2 with a translocation t(15;17)(q22;q12) On the basis of the cytological findings, a translocation t(8;21)(q22;q22) was suspected. FISH analyses using specific probes for t(15;17) and t(8;21) detected both PML/RARalpha and AML1/ETO rearrangements in a few percentage of cells. This case demonstrates the complexities that may occur between cytology and cytogenetic findings and the usefulness of FISH methods to detect an AML1/ETO rearrangement only suspected by cytological examination of bone marrow smears.
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14/1378. The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.

    Chromosomal abnormalities involving the 11p15 or 11q22-23 bands have been reported in several types of human neoplasms including hematopoietic malignancies. The abnormalities are observed in therapy-related malignancies and less frequently in de novo myeloid malignancies. Abnormality of the MLL gene located on chromosome 11q23 has been well known in therapy-related myeloid malignancies, but it has been reported only recently that the inv(11)(p15q22) in de novo or therapy-related myeloid malignancies results in the fusion of NUP98 on chromosome 11p15 and DDX10 on chromosome 11q22. NUP98 is a nucleoporin that composes the nuclear pore complex and is the target gene in leukemia with the t(7;11)(p15;p15). The DDX10 gene encodes a putative adenosine triphosphate-dependent DEAD box rna helicase. Here we present another patient with acute myelocytic leukemia (M4) transformed from chronic myelomonocytic leukemia with the inv(11) chromosome who had been treated with etoposide for a germ cell tumor. By reverse transcription polymerase chain reaction (RT-PCR) of the rna from the leukemic cells of the patient, DDX10-NUP98 and NUP98-DDX10 fusion transcripts were detected. Our case confirms that the inv(11) is a rare chromosomal translocation that is associated with therapy-related or de novo myeloid malignancy and involves NUP98 and DDX10 but not MLL. RT-PCR of the fusion transcripts might be applied to the detection of a small number of leukemic cells in the bone marrow or blood of patients in remission or in the cells harvested for autologous transplantation.
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15/1378. A case of T-lineage lymphoblastic lymphoma/leukemia with t(4;11)(q21;p15) that switched to myelomonocytic leukemia at relapse.

    A 51-year-old Japanese woman, initially diagnosed with T-lineage (CD2 , CD7 , CD3-, CD4-, CD8-) lymphoblastic lymphoma with t(4;11)(q21;p15), relapsed with acute myelomonocytic leukemia with the identical chromosomal abnormality. Southern-blot analysis revealed clonal rearrangements of an immunoglobulin heavy chain gene (JH) and T-cell receptor genes (J delta 1, J gamma 1, C beta 1) at first presentation, but germ line configurations of these genes at relapse. Leukemias with t(4;11)(q21;p15) may involve a hematopoietic progenitor capable of multilineage differentiation.
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16/1378. Translocation (4;15)(p16;q24): a novel reciprocal translocation in a patient with BCR/ABL negative myeloproliferative syndrome progressing to blastic phase.

    A patient with BCR/ABL negative myeloproliferative syndrome with a 46,XY,del(3)(q21), t(4;15)(p16;q24) karyotype is described. fluorescence in situ hybridization performed with chromosomes 4 and 15 painting probes confirmed a novel reciprocal (4;15) translocation. The absence of crkl tyrosine phosphorylation, no activation of the abl kinase as measured by autophosphorylation, and a normal-size abl transcript suggest an alternative mechanism for leukemogenesis to that operative in Ph positive BCR/ABL positive chronic myeloid leukemia. A number of genes potentially relevant to tumorigenesis, some involving the ras signaling pathway, map to the 4p16 and 15q24 chromosome regions.
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17/1378. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).

    MLL (ALL1, Htrx, HRX), which is located on chromosome band 11q23, frequently is rearranged in patients with therapy-related acute myeloid leukemia who previously were treated with dna topoisomerase ii inhibitors. In this study, we have identified a fusion partner of MLL in a 10-year-old female who developed therapy-related acute myeloid leukemia 17 months after treatment for Hodgkin's disease. leukemia cells of this patient had a t(11;17)(q23;q25), which involved MLL as demonstrated by Southern blot analysis. The partner gene was cloned from cDNA of the leukemia cells by use of a combination of adapter reverse transcriptase-PCR, rapid amplification of 5' cDNA ends, and BLAST database analysis to identify expressed sequence tags. The full-length cDNA of 2.8 kb was found to be an additional member of the septin family, therefore it was named MSF (MLL septin-like fusion). Members of the septin family conserve the GTP binding domain, localize in the cytoplasm, and interact with cytoskeletal filaments. A major 4-kb transcript of MSF was expressed ubiquitously; a 1.7-kb transcript was found in most tissues. An additional 3-kb transcript was found only in hematopoietic tissues. By amplification with MLL exon 5 forward primer and reverse primers in MSF, the appropriately sized products were obtained. MSF is highly homologous to hCDCrel-1, which is a partner gene of MLL in leukemias with a t(11;22)(q23;q11.2). Further analysis of MSF may help to delineate the function of MLL partner genes in leukemia, particularly in therapy-related leukemia.
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18/1378. Complex variant 15;17 translocations in acute promyelocytic leukemia. A case report and review of three-way translocations.

    Complex variant 15;17 translocations are increasingly recognized in acute promyelocytic leukemia (APL). We report a novel three-way translocation in APL involving chromosomes 15, 17, and X in the form of t(X;17;15)(q13;q12;q21). Southern blot analysis showed retinoic acid receptor alpha (RARA) gene rearrangement at intron 2. Clinical and morphologic findings are typical of APL, and a complete remission was attained with a course of conventional chemotherapy. A review of three-way complex variants of 15;17 translocation in the literature reveals 21 published cases in addition to ours. PML/RARA fusion was observed in all 8 cases in which molecular genetic analysis had been performed. More cases need to be analyzed to determine if clustering to particular chromosomal bands occurs in variant translocations, and whether APL cases harboring complex 15;17 variants differ clinically from those with classical 15;17 translocation.
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19/1378. T-cell prolymphocytic leukemia with a novel translocation (6;11)(q21;q23).

    T-cell prolymphocytic leukemia (T-PLL) is an uncommon chronic lymphoproliferative disorder characterized by lymphadenopathy, splenomegaly, and lymphocytosis. The leukemic cells have the appearance of prolymphocytes and usually an immunophenotype of T-helper cells (CD3 CD4 CD8-). Inv(14q), del(11q), i(8q), and rearranged Xq28 are the commonest nonrandom chromosomal abnormalities in T-PLL. Recently, it has been shown that the ataxia-telangiectasia mutated (ATM) gene located at 11q23 is often deleted in T-PLL, suggesting a tumor suppressor role of the ATM gene on tumorigenesis of T-PLL. We report a case of T-PLL with t(6;11)(q21;q23) as the sole chromosomal abnormality and suggest that the cytogenetically identified translocation also implicates the ATM gene.
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20/1378. A translocation breakpoint at chromosome band 12q13 associated with B-cell chronic lymphocytic leukemia.

    Low-grade B-cell lymphoproliferative disorders are frequently associated with an extra copy of chromosome 12. This well-documented acquired anomaly is one of the most specific numerical chromosome alterations to occur in human hematological malignancies. We have cytogenetically characterized bone marrow and peripheral blood cells from a patient with B-cell chronic lymphocytic leukemia (CLL) having a unique acquired translocation involving chromosomes 6 and 12, t(6;12) (p21.3;q13), which implicates band 12q13 as the site of the gene(s) important in this lymphoproliferative B-cell disorder. aneuploidy, in the form of trisomy of chromosome 12, is not a requirement for neoplastic transformation in B-cell CLL, but gene rearrangement (present case) or nondisjunctional acquisition of additional copies of defective genes on chromosome 12 at band q13 may be involved in the genesis or progression of this disorder.
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