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1/17. trisomy/ tetrasomy of chromosome 8 and i(8q) as the sole chromosome abnormality in three adult patients with myelomonocytic leukemia.

    We report three cases of tetrasomy 8 associated with myeloid disease. Two patients had chronic myelomonocytic leukemia (CMMoL) and the other had acute monocytic leukemia (AML M5 FAB). Two patients had trisomy/tetrasomy chromosome 8 as the sole abnormality. The other patient with CMMoL had two normal 8 chromosomes plus one isochromosome 8q; this is the first case of long arm chromosome 8 tetrasomy without short arm 8 monosomy. This cytogenetic finding suggests the importance of the genes located in the long arms of chromosome 8.
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ranking = 1
keywords = trisomy
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2/17. Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.

    We present a 3-year-old boy with constitutional partial trisomy 8 mosaicism (karyotype 47,XY, del(8)(p12)/46,XY) who developed chronic myelomonocytic leukaemia and we review the few reported cases of constitutional trisomy 8 mosaicism (CT8M) associated with malignancy. This case highlights the association between CT8M and the development of malignancies, haematological malignancies in particular.
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ranking = 8.9940874681242
keywords = trisomy, partial trisomy
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3/17. trisomy 14 with thrombocytosis and monocytosis.

    It has been reported that trisomy 14 is associated with myeloid malignancies, but a case with increased platelet count has also been reported. However, the clinical significance of trisomy 14 is still uncertain. We report a patient with trisomy 14 with thrombocytosis and a gradual increase in monocytosis. He was treated with hydroxyurea, cytarabine and aclarubicin in low doses and his quality of life was maintained for a period of about 1 year from blastic crisis. hydroxyurea, cytarabine or aclarubicin in low doses may be the treatment of choice for trisomy 14 patients with respect to the patients' quality of life.
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ranking = 4
keywords = trisomy
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4/17. trisomy 14 in myeloid malignancies: report of two cases and review of the literature.

    To our knowledge, 58 cases of trisomy 14 in association with hematological malignancies have been reported, predominantly in myeloid malignancies. We report two patients with trisomy 14 associated with myelodysplasia. The bone marrow showed trilineage dysplasia, monocytosis and only mild thrombocytopenia. A nonmosaic karyotype was seen in both patients and survival from diagnosis was short (<1 year). The features are consistent with data from other published cases and support the hypothesis that trisomy 14 is a non-random karyotypic abnormality, with defined clinical associations and a poor prognosis.
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ranking = 3
keywords = trisomy
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5/17. Cytogenetic evidence for extramedullary blast crisis with t(8;13)(q11;p11) in chronic myelomonocytic leukemia.

    A 27-year-old male developed massive generalized lymphadenopathy with chronic myelomonocytic leukemia (CMML) presenting as extramedullary blast crisis mimicking a lymphocytic lymphoma. On presentation, a consistent chromosomal abnormality involving chromosomes 8 and 13, i.e. 46,XY,t(8;13) (q11;p11), was present in lymph node tissue, bone marrow and unstimulated peripheral blood. The appearance of trisomy 21 in addition to the presence of the original cytogenetic abnormality is simply regarded as clonal evolution, i.e. 47,XY,t(8;13)(q11;p11), 21. The importance of the cytogenetics lies in finding the same abnormality in bone marrow and lymph node, adding evidence that the immunologically similar cells in the two sites have arisen from a common progenitor cell. To our knowledge, this novel chromosomal abnormality has not been reported in association with a unique case.
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ranking = 1
keywords = trisomy
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6/17. Myelodysplastic syndrome and trisomy 14q.

    trisomy 14 as a sole karyotypic abnormality in neoplasia is extremely rare. In hematologic disorders, 18 cases have been reported so far, 17 of which involved disorders of the myeloid lineage. Five were cases of myelodysplastic syndrome (MDS), and a further four involved philadelphia-negative atypical chronic myeloid leukemia. The case presented here is the second case of trisomy 14q in MDS involving the chronic myelomonocytic leukemia subtype. There were certain features in common with some of the previously reported cases. We raise the possibility that this represents a specific entity.
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ranking = 5
keywords = trisomy
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7/17. Isochromosome 14q and leukemia with dysplastic features.

    We report a case of chronic myelomonocytic leukemia (CMMoL) with unusual features and an isochromosome 14q as the sole abnormality. A review of the literature suggests that isochromosome 14q (or trisomy 14) is a marker of leukemia with dysplastic features.
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ranking = 1
keywords = trisomy
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8/17. A der(14)t(1;14)(q12;p11) in chronic myelomonocytic leukemia.

    Duplication of the long arm of chromosome 1 (1q) is widely reported in human neoplasia, including the myelodysplastic syndromes (MDS). So far, it has not been described as a single aberration in the chronic myelomonocytic leukemia (CMML), a subtype of MDS. Rather, trisomy 1q was always a part of complex chromosome changes affecting the subtypes of MDS other than CMML. We report on a patient with CMML with an unbalanced translocation of the entire 1q onto the short arm of chromosome 14 as a sole cytogenetic abnormality. fluorescence in situ hybridization (FISH) analysis with an alpha-satellite probe for the paracentric region of the long arm of chromosome 1 confirmed the presence of trisomy 1q in a derivative chromosome, der(14)t(1;14)(q12;p11). The discrepant results between the metaphase cytogenetics (100% abnormal) and interphase cytogenetic (71% nuclei with 3 signals) suggest that trisomy 1q, even in the absence of additional cytogenetic changes, has a sufficient leukemogenic potential to confer a proliferative advantage on hematopoietic cells committed to monocyte stemline both in vitro and in vivo. The literature data on partial and complete trisomy 1q in CMML is reviewed.
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ranking = 4
keywords = trisomy
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9/17. Chronic myelomonocytic leukaemia after platinum-based therapy for non-small cell lung cancer: case report and review of the literature.

    Chronic myelomonocytic leukaemia (CMML) is a preleukaemic condition with myeloproliferative features, and classified as a part of myelodysplastic syndrome (MDS). Other than alkylating agents and topoisomerase ii inhibitors, there is less evidence that chemotherapeutic drugs are associated with therapy-related CMML, acute leukaemia or MDS. We present a patient who developed CMML within 2 years of platinum-based chemotherapy for a metastatic non-small cell lung cancer. He received a cumulative dose of 240 mg/m(2) of cisplatin, and 1123 mg/m(2) of carboplatin before developing CMML. The cytogenetic study revealed trisomy 8. This is the first reported case that links platinum-based therapy with development of CMML with trisomy 8. Although the relationship between platinum therapy and the development of CMML is difficult to assess due to combinational nature of therapy in most cases, physicians should consider the possibility of CMML in patients with symptoms or signs suggestive of haematologic malignancy after platinum therapy.
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ranking = 2
keywords = trisomy
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10/17. Partial trisomy 1q. A nonrandom primary chromosomal abnormality in myelodysplastic syndromes?

    Cytogenetic and clinical data of 11 patients with de novo myelodysplastic syndromes and partial or total trisomy of the long arm of chromosome 1 are presented. In eight of these patients trisomy 1q was the sole karyotypic change and therefore can be classified as a primary chromosome anomaly. A remarkably young median age of 36.5 years was noticed in this patient group.
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ranking = 6
keywords = trisomy
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