Cases reported "Translocation, Genetic"

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11/4579. Human herpesvirus-8 (HHV-8) associated with small non-cleaved cell lymphoma in a child with AIDS.

    The association of human herpesvirus-8 (HHV-8) with a small non-cleaved cell lymphoma is described in a child with the acquired immunodeficiency syndrome (AIDS) who developed a malignant pleural effusion and radiologic evidence of multiple solid tumors. HHV-8 DNA and Epstein-Barr virus DNA were identified in pleural fluid cells by polymerase chain reaction (PCR) amplification. The serum antibody titer against lytic HHV-8 proteins was 1:640; antibodies to latent HHV-8 proteins were not detected. cytogenetic analysis of malignant cells revealed three abnormal karyotypes sharing the common finding of a t(8;14) translocation. Rearrangement of c-myc was demonstrated by PCR analysis. Oligoclonal JH immunoglobulin bands were found. Insufficient pleural fluid cells were available to permit localization of HHV-8 to malignant cells by in situ hybridization. This malignancy contrasts with HHV-8-associated lymphomas reported in adult patients with AIDS with respect to cell morphology, c-myc translocation, and oligoclonal immunoglobulin gene rearrangement. HHV-8 is associated with a wider spectrum of malignancies than recognized previously.
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12/4579. FISH on sperm heads allows the analysis of chromosome segregation and interchromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13).

    Using three-color fluorescence in situ hybridization (FISH) with specific dna probes, we have determined the chromosome segregation pattern of the translocated chromosomes in a human male carrier of a reciprocal translocation, t(5;8)(q33;q13). At the same time, we have assessed the possible interchromosomal effect on pair 21 using dual-color FISH. The segregation results showed that a 45.12% of the spermatozoa analyzed resulted from alternate segregation, 38.31% resulted from adjacent I, 6.97% from adjacent II, and 6.56% from 3:1 segregation. Finally, 1.23% could be either diploid sperm or 4:0 segregation. In both types of adjacent segregations, an excess of products containing short translocated segments (adjacent I) and interstitial regions (adjacent II) were found. Products resulting from the presence of an interstitial chiasma in pair 5 (1.26%), were found much more frequently (P < 0.0001) than those resulting from an interstitial chiasma in pair 8 (0.13%) (evaluated after adjacent II segregation). In 3:1 segregation, the products containing one chromosome were observed more frequently than those containing three chromosomes (P < 0.0001). No evidence of an interchromosomal effect on chromosome 21 was detected, the percentage of disomy 21 being similar to that in the controls (0.23% vs. 0.37%). However, the percentage of diploid sperm (1.18%) was significantly higher (P < 0. 0001) than that in the controls (0.27%). FISH therefore appears to be a useful technique for assessing the percentage of abnormal sperm in translocation carriers. Their application in assisted reproduction centers could offer patients more accurate genetic counseling.
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ranking = 1.26
keywords = m
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13/4579. Acute promyelocytic leukemia. New methods in diagnosis and treatment.

    Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia characterized by hypergranular leukemic cells, bleeding diathesis and t(15; 17) translocation. The t(15; 17) translocation leads to the production of the PML-RAR alpha fusion protein which plays a vital role in the pathogenesis of APL by arresting normal differentiation of myeloid precursors. However, in the presence of high concentrations of all-trans-retinoic acid (ATRA), the PML-RAR alpha fusion protein serves to stimulate cell differentiation. The diagnosis of APL and the detection of residual disease are based on the t(15; 17) translocation. Treatment with a combination of ATRA and anthracycline-AraC chemotherapy has shown a higher rate of complete remission in APL. We report the case of a 71-year-old male with the rare microgranular variant of APL to illustrate these findings. The patient was treated with a combination of ATRA and daunorubicin-AraC chemotherapy and achieved complete remission. He developed retinoic acid syndrome as a complication of therapy with ATRA. The methods for diagnosis, the molecular mechanisms in the oncogenesis of APL, rationale of treatment of APL with ATRA, complications of therapy and the new concepts in the treatment of ATRA-resistant APL are discussed.
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ranking = 4131.8075177652
keywords = leukemia, myeloid leukemia, m
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14/4579. Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements.

    karyotyping of a fetus with mild cerebral ventriculomegaly detected with ultrasound at 23 weeks revealed two apparently balanced structural rearrangements in mosaic form. Using conventional cytogenetics and FISH, the chromosomal constitution was identified as 46,XX,t(3;10)(p13;q21.1),inv(6)(p23q12)/46,XX. A 46,XX chromosome constitution was predominantly present in the skin whereas in the fetal blood the cell line with two balanced chromosome rearrangements was selectively retained. To the best of our knowledge this is the first prenatal case of mosaicism for two de novo balanced structural chromosome rearrangements to be reported.
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15/4579. Jumping translocations involving chromosome 1q in a patient with crohn disease and acute monocytic leukemia: a review of the literature on jumping translocations in hematological malignancies and crohn disease.

    A 36-year-old man with a 10-year history of crohn disease (CD) presented with gross hematuria and blasts in his peripheral blood. A chromosome analysis revealed one normal cell and 33 abnormal cells. The stem line was 47,XY, 8. The multiple side lines also had a jumping translocation between chromosome 1q31-32 and 4, 8, 10, 17, and 18 terminal regions. A cytogenetic, morphologic, and immunophenotypic analysis of a bone marrow aspirate and biopsy demonstrated acute myeloid leukemia of monocytic lineage, AML-M5b. In this paper are reviewed (a) the unusual and rare phenomenon of jumping translocations in hematological malignancies and (b) leukemia in CD.
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ranking = 4132.0675177652
keywords = leukemia, myeloid leukemia, m
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16/4579. Translocation (11;22)(q24;q12) in a small cell tumor of the thigh in a 2-year-old boy: immunohistology, cytogenetics, molecular genetics, and review of the literature.

    A case of a 2-year-old boy with a palpable mass in the left thigh is presented. Incisional biopsy was performed and subsequent histopathological examination revealed an infiltrative tumor composed of relatively large cells. The tumor cells were immunoreactive for vimentin and keratin, but not for desmin or smooth muscle actin. cytogenetic analysis showed a 46,XY,t(11;22)(q24;q12) karyotype. The translocation (11;22)(q24;q12) is said to be characteristic for the family of Ewing's sarcoma and related tumors. As a result of the t(11;22)(q24;q12) the EWS gene on chromosome 22q12 joins the 3' part of FLI-1 gene on chromosome 11q24, which encodes a member of the ets family of transcriptional regulators. Using reverse transcription polymerase chain reaction (RT-PCR) a corresponding EWS-FLI-1 fusion product was detected. Additional immunohistological staining for p30/p32MIC2, which is suggestive, but not specific for Ewing's sarcoma, appeared to be weakly positive. In the current case a diagnosis of Ewing's sarcoma was considered unlikely, because of the location of the tumor and the immunohistological profile. Nevertheless it was decided to treat the patient according to a Ewing's sarcoma protocol based on the genotype of the tumor. The findings were compared with other extraosseous pediatric small cell tumors showing the t(11;22)(q24;q12) described in the literature.
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ranking = 1.1
keywords = m
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17/4579. A complex translocation involving chromosomes 2, 9 and 22 in a patient with chronic myeloid leukemia.

    A patient with a high leukocyte count, diagnosed with chronic myeloid leukemia was referred for cytogenetic study. Peripheral blood and bone marrow cells were cultured without mitogenic stimulation. All karyotypes represented rare, varient philadelphia chromosome with-three way translocation, i.e. t (2; 9; 22) (p13; q34; q11).
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ranking = 4392.4232971705
keywords = leukemia, myeloid leukemia, m
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18/4579. Jumping translocation at 11q23 with MLL gene rearrangement and interstitial telomeric sequences.

    myeloid leukemia of acute myeloid leukemia (AML) M5a showing a jumping translocation with a breakpoint at 11q23. fluorescence in situ hybridization (FISH) demonstrated triplication of the MLL gene and the presence of interstitial telomeric sequences, supporting the role of repetitive sequences in the mechanism of jumping translocations. Southern blot analysis of the MLL breakpoint cluster region showed the presence of an MLL gene rearrangement. Jumping translocation with MLL gene rearrangement is a previously unreported phenomenon in leukemia cytogenetics.
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ranking = 2407.8034905344
keywords = leukemia, myeloid leukemia, m
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19/4579. Molecular cytogenetic delineation of the breakpoint at 18q21.1 in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue.

    Extranodal malignant non-Hodgkin lymphoma of mucosa-associated lymphoid tissue type (MALT lymphoma) represents a subtype of B-cell lymphoid malignancies with distinct clinicopathological features and is often associated with a favorable prognosis. Recent cytogenetic studies have revealed that t(11;18)(q21;q21) is a characteristic chromosomal aberration in low-grade B-cell MALT-type lymphoma. In the present study, we employed florescence in situ hybridization analysis using contiguous YAC clones mapped to the 18q21.1 region to identify a YAC clone, y789F3, encompassing the breakpoint of t(11;18)(q21;q21) in a MALT lymphoma. PI artificial chromosome (PAC) contigs constructed on this YAC clone were used to analyze the breakpoint region. PAC clone 264m4 was observed on normal chromosome 18 and on der(18), and PAC clone 879n 10 on normal chromosome 18 and on der(II), confirming that the breakpoint is located between these two PAC clones. We also found that a region of approximately 500 kb between the two PAC clones was deleted. These results indicate that the locus between PAC clones 264m4 and 879n 10 at 18q21.1 involved in t(11;18) translocation or associated deletion plays an important role in the development of MALT lymphoma.
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20/4579. Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

    A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2, der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.
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ranking = 0.46
keywords = m
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