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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cytogenetic studies were performed in 331 patients with ALL diagnosed at the National Institutes of Health between January 1961 and January 1976. Four patients had constitutionally abnormal genotypes, three had Down's syndrome, and one had a D/G translocation. Aneuploidy was observed in the pretreatment bone marrow in 49/115 (42.6%) of this series exhibited several general characteristics: aneuploid cells usually coexist with normal stem cells, hyperdiploidy is predominant and wide ranging aneuploidy clusters around a major cell line. The most common chromosomal group involved in aneuploidy is the G group (p=0.001) and the next most common is the B group (p=0.01). Aneuploidy disappeared after successful achievement of remission, and new clones developed in 12 patients during relapse. Two of the four patients originally thought to have a Ph1 chromosome, on trypsin Giemsa handing were proved to have a 21q- chromosome. A higher incidence of aneuploidy was noted in patients under one year or more than 20 years of age and was also higher in patients with low or elevated WBCs at diagnosis. The appearance of aneuploid cells in the bone marrow at the onset or later in the disease is of no prognostic significance but persistence of these lines and the development of total aneuploidy signals a poor prognosis. Eradication of aneuploid cells is therefore essential for the achievement of a long remission and progress to a permanent cure.
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PMID:Cytogenetic studies in acute lymphocytic leukemia: special emphasis in long-term survival. 106 41

Chromosome studies, using bone marrow samples of 26 pretreated children (below 15 years of age) with Acute Lymphoblastic Leukemia were carried out to explore the potentialities of applying chromosomal findings as a prognostic indicator in these patients. Abnormal karyotype was identified in 15 patients (57.6 per cent). The chromosomes frequently involved in non-random numerical abnormalities were Nos. 8, 18 and 21. Structural chromosome changes observed consisted of deletion 6q- and translocation t (4;11). After karyotype analysis, patients were grouped into subsets on the basis of the karyotype pattern observed. They were followed up to evaluate their prognosis and survival period. Patients showing hyperdiploid clone with greater than 51 chromosomes had the best prognosis. Patients with normal karyotype and patients with deletion of the long arm of chromosome 6 showed intermediate prognosis whereas patients showing t (4;11), trisomy 8, trisomy 18, trisomy 21, and hypodiploid karyotype were associated with worst prognosis. Thus, karyotype analysis before treatment helps to classify ALL patients as poor, intermediate and good prognosis groups and on this basis therapy can be designed accordingly.
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PMID:Prognostic significance of karyotype analysis in children with acute lymphoblastic leukemia. 129 34

This is a review of preleukaemic states in children. In a prospective series of 109 children with AML the overt disease was preceded by MDS in 22 cases. Ten of these patients had Down's syndrome. Advanced FAB groups were represented in the series. An important subgroup is the bone marrow monosomy 7 syndrome. Cytogenetic anomalies are common in MDS, and multiple and complicated abnormalities develop in nearly all patients with progressing disease. Some children die before transformation to overt ANLL. Transformation usually occurs, few children survive. With cytostatic treatment the risk of irreversible aplasia is great. The choice of schedule should therefore be carefully considered. Bone marrow transplantation has proved beneficial in a number of cases, but these are still quite few. The dysfunction of the bone marrow preceding ALL is due to transient aplastic anaemia--spontaneous remission--overt ALL, often FAB type L1, immunophenotype CALLA. The ALL reacts to the same treatment as de novo ALL of the same type and the prognosis is the same.
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PMID:Bone marrow dysfunctions preceding acute leukemia in children: a clinical study. 173 77

This report describes three cases with Down's syndrome. These cases initially had transient abnormal myelopoiesis (TAM), from which they recovered spontaneously. They finally developed into overt acute leukemia characterized by an increase of blasts, hepatosplenomegaly, and elevated lactic dehydrogenase. Of these three cases, one was thought to have ANLL, which broke out 5 months after spontaneous remission. The other two had ALL, each occurring 8 and 9 years later. Chromosomal abnormality, in addition to trisomy 21, was detected in blast cells from one of the patients with acute leukemia. All three patients with acute leukemia experienced complete remission. However, two of the three patients relapsed and died. It is noted in the literature that remission is permanent in most cases of TAM, and is rarely terminated by leukemic relapse. In view of our observations, the importance of following up on such patients who evidence apparent remission of their leukemia-like disorder is emphasized.
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PMID:[Transient abnormal myelopoiesis followed by acute leukemia in children with Down syndrome]. 215 Apr 19

A 32-year-old female with Down's syndrome and common ALL was treated with human leucocyte interferon-alpha (IFN-alpha) at a dose of 3 X 10(6) units i.m. daily. Side-effects consisted of slight tenderness and localized haematomas at the sites of injection. During treatment the number of leukaemic cells decreased in the peripheral blood. The proportion of blast cells in the bone marrow decreased only slightly, but a large fraction of them became vacuolized. After the initial response the disease progressed and IFN was withdrawn after treatment for 67 d. Prior to initiation of IFN treatment the natural killer activity of the patient's lymphocytes, as well as the response of these cells to mitogenic stimuli, was low. During IFN therapy these functions increased. Following the withdrawal of IFN therapy the patient received vincristine/prednisone treatment and a complete remission was achieved after 5 weeks. She is still in remission and on maintenance therapy 24 months after initiation of treatment.
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PMID:Interferon-alpha treatment of a patient with acute lymphoblastic leukaemia and Down's syndrome. Effects on natural killer cell activity and mitogen responsiveness. 658 84

In 1985 acute megakaryoblastic leukemia was included in the FAB classification system of hematological neoplasias with the designation of AML M7. It occurs in all age groups with two peaks in distribution. The one is in adults and the other in children 1 to 3 years of age especially in those with Down's syndrome. The diagnosis of AML M7 requires more than 30% of the nucleated bone marrow cells being megakaryoblasts. The more common types of AML MO-M6 have to be excluded by morphological and cytochemical analysis whereas immunology is needed to exclude ALL. The megakaryocytic nature of the leukemia has to be proven by ultrastructural demonstration of platelet peroxidase or by immunological demonstration of CD61, CD42, CD41 on the surface of the leukemic blasts. Megakaryocytic/megakaryoblastic leukemias show a wide morphologic spectrum. In some instance small cells dominate, clearly showing megakaryocytic differentiation with scant amounts of cytoplasm and with nuclei showing dense chromatin. On the other hand, there are cases with larger cells resembling ALL-L2 blasts with moderate amounts of rather basophilic cytoplasm which in some instances contain azurophilic granules. Cytoplasmic blebs and protrusions are the most prominent feature of many cases. The nuclei of these cells are round with more finely reticulated chromatin and with prominent nucleoli. The megakaryoblastic nature of these cells can be suggested by morphology. However, according to our experience there are cases of c-ALL with the very same morphologic picture. Consequently, immunologic phenotyping of these cases is necessary in any instance. Cytochemistry is of limited diagnostic value in megakaryoblastic leukemias. Usually it is used to exclude the more common types of leukemia.
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PMID:Acute megakaryoblastic leukemia. 749 59

Eight patients with acute lymphoblastic leukemia of Burkitt's type (ALL-L3) and two patients with Burkitt's lymphoma (BL) were subjected for cytogenetic studies. Translocation (8;14)(q24;q32) was present in nine (90%) patients; seven patients of ALL-L3 and two of BL. One ALL-L3 patient revealed t(14;18)(q32;q21) in 100 per cent metaphases. Additional clonal chromosomal anomalies present in these patients were deletion (6q) (40%) and trisomy 21(20%). The occurrence of t(8;14)(q24;q32) in ALL-L3 and BL patients in our series supports the association of t(8;14) with ALL-L3 and Burkitt's lymphoma.
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PMID:Cytogenetic studies on patients of acute lymphoblastic leukemia Burkitt's type with (8;14) & (14;18) translocations. 808 87

Two males with Down syndrome and acute lymphoblastic leukemia with the acquired translocation, t(8;14)(q11;q32), are described. In each case the constitutional karyotype was 47,XY,+21. The patients were, respectively, aged 3 years 11 months and 32 years, with presenting white blood counts 34 and 1.9 x 10(9)/L with blasts of FAB L1 and L2. In each case immunophenotype of the blasts was C-ALL. The child is alive and well and in first remission 6 years from diagnosis. In contrast, the adult patient died in first remission 8.5 months from diagnosis with severe pancytopenia. These are to our knowledge the second and third cases of ALL with t(8;14)(q11-12;q32) associated with a constitutional genetic disorder.
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PMID:Two Down syndrome patients with an acquired translocation, t(8;14)(q11;q32), in early B-lineage acute lymphoblastic leukemia. 824 99

Using DNA staining with highly stable osmium-ammine-B, the blasts of AMKL were observed under an electron microscope, in comparison with AML, ALL, CML-MK crisis and TMD. The DNA within the nucleus of the megakaryoblasts was observed as a high electron-density substance and tended to be uniformly dispersed within the nucleus. DNA, associated with nucleoli, could be roughly divided in four types based on the presence or absence of peri-nucleolar clumps and intra-nucleolar clumps. In cases of AMKL, we often observed a type that did not have peri-nucleolar DNA clumps but did have DNA flecks within the nucleoli. By analytical evaluation there were no differences among cells from several subtypes of megakaryocytic leukemia, such as AMKL in children with Down's syndrome, AMKL in children without Down's syndrome, AMKL in adults, and CML-MK crisis. The DNA distribution of TMD blasts, which were self-limited and not malignant, resembled that of AMKL blasts.
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PMID:Ultrastructural investigation of DNA in megakaryoblastic leukemia by using osmium-ammine-B: comparison with several types of leukemia. 826 56

The incidence of hematologic disorders in patients with Down's syndrome (DS) is significantly increased, and includes neonatal transient abnormal myelopoiesis and acute leukemias. Treatment of children with DS and leukemia has been controversial because of toxicity and associated congenital cardiac and other abnormalities. The role of BMT, particularly from an unrelated donor (URD), remains undefined in this population. We report two children with DS and acute leukemia successfully treated with intensive chemotherapy and matched URD bone marrow transplantation. One child was transplanted in third remission of ALL and has been disease free for 8 months. A second child with AML was transplanted in second remission and is disease free 15 months post-BMT.
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PMID:Unrelated donor bone marrow transplantation for acute leukemia in patients with Down's syndrome. 886 63


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