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

Acute leukemia in the newborn child is a rare event. The clinical and biological characteristics differ from those normally encountered in the older child. Tumoral syndrome and extra-medullar locations are frequently described in the literature. Many authors have noted the difficulty of diagnosis due to the immaturity of the malignant proliferation. While it is generally agreed that therapeutic abstention is justified in the leukemoid reaction in Down's syndrome, the choice is debatable in the phenotypically intact newborn. For this reason, blastic karyotype analysis is essential and may provide guidelines when considering treatment. We report on a case history of acute monoblastic leukemia with translocation 9;11 that was diagnosed at birth in a normal newborn infant. The juxtaposition of c-ets 1 protooncogene and the beta-interferon gene has been associated with this kind of cytogenetic disease and probably constitutes a model for human leukemogenesis.
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PMID:[Acute congenital monoblastic leukemia and 9;11 translocation: a case]. 133 93

Two cases of acute myeloblastic leukemia (AML M2) associated with a deletion of chromosome 6q are described. One was a 38-year-old man with constitutional inversion of chromosome 9, and another was a 57-year-old female atomic-bomb survivor. The karyotype of these patients were 46,XY,del(6)(q12q14),inv(9)(p11q13), and 47,XX,6q-,+min, respectively. In both cases c-myb protooncogene, which is located in chromosome 6q, was neither deleted nor rearranged, and c-myb messenger RNA level was not elevated. These results suggest that c-myb is not involved in the leukemogenesis of AML with 6q- as well as lymphoid malignancies with 6q-. Out of 23 AML cases with 6q- reviewed, 6 cases had erythroleukemia, and 4 developed in Down syndrome patients.
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PMID:Deletion of chromosome 6q in two cases of acute myeloblastic leukemia and a review of the literature. 155 Oct 86

Cytogenetic and dermatoglyphic studies were carried out in Down's Syndrome (DS) malformed girl aged 2 years, suffering with Acute Lymphoblastic Leukemia (ALL) as well as in her healthy parents. The malformed leukemic girl has about 90 percent of the analysed metaphases with the modal number 47 XX + 21, but in 15 percent of the same metaphases one notices t (9;22)(q34;q11) coexisting with trisomy 21. The mother has an inconsistent chromosomal change and the father is cytogenetically normal. The proband child's fingerprints distribution is partly similar to the mother's, but while the diseased girl has a simian line (SL) in her left hand, the healthy Father has a F1 transition form of palmar flexion creases in the left hand too. We have analysed two coexistent types of chromosomal aberrations in some metaphases of the proband girl who combines only some dermatoglyphic characteristics which are similar to each of the parents. Although the molecular basis is not known but partly in restructuring and/or repositioning of the genes in coexistent chromosomal changes we have suggested a possible way of expressing predispositional potential in leukemogenesis in which the chromosomes 21 and the genes located in them are implied.
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PMID:21 trisomy and 9/22 translocation in a Down's syndrome malformed girl with acute lymphoblastic leukemia. 183 60

The association of Down's syndrome and leukemia has been documented for over 50 years. Multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population. The age of onset for leukemia in these children is bimodal, peaking first in the newborn period and again at 3-6 years. This increased risk extends into adulthood. All cytogenetic types of Down's syndrome apparently predispose to leukemia. The proportion of acute lymphoblastic leukemia and acute nonlymphoblastic leukemia in patients with Down's syndrome is similar to non-Down's syndrome leukemia patients matched for age. There are case reports in which leukemia, Down's syndrome, and other chromosomal aberrations cluster within a family. In these kindreds, there may be a familial tendency toward nondisjunction. Congenital leukemia also occurs with increased frequency in Down's syndrome patients, and is characterized by a preponderance of acute nonlymphoblastic leukemia (similar to non-Down's syndrome patients). Transient leukemoid reactions have been observed in Down's syndrome patients, as well as in phenotypically normal children with constitutional trisomy 21 mosaicism. The transient leukemoid reactions are characterized by a high spontaneous remission rate. However, in some Downs syndrome patients with apparent transient leukemoid reaction, leukemia relapse following periods of spontaneous remission have been reported. Cytogenetic studies of leukemic cells in Down's syndrome patients show a tendency toward hyperdiploidy. Besides trisomy 21, there is no other specific cytogenetic abnormality that is characteristic of the leukemia cells in Down's syndrome patients. The possible mechanisms for leukemogenesis in Down's syndrome patients may involve factors at the levels of the organism, the organ/system, the cell, the chromosomes or the DNA.
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PMID:Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. 295 86

Of the myeloproliferative disorders which develop in Down's syndrome, acute leukemia associated with trisomy 8 has distinct characteristics. It is non-lymphoblastic in type and has a preleukemia phase in which thrombocytopenia is a prominent feature. One case occurring in a 20 mth-old girl is reported and 3 other similar cases reviewed. Acquired trisomy 8 in Down's syndrome is linked to leukemogenesis and confers non-lymphoblastic differentiation.
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PMID:Acute leukemia characterized by trisomy 8 in Down's syndrome. 315 66

Interstitial deletion of the long arm of chromosome 9 (9q-) is an uncommon karyotypic abnormality in acute myeloid leukemia (AML). We report a case of acute myeloid leukemia, M6 according to the FAB criteria, in which 9q- was the sole karyotypic abnormality. From our own experience and that in the literature, interstitial 9q- seems to be associated with two specific morphologic/cytogenetic categories: AML M2 and t(8;21)(q22;q22)/trisomy 21; and as the sole karyotypic aberration in AML M1/M2(M6) with dyserythropoiesis. Examination of the published karyotypes shows that 9q13 to 9q21 is the commonest deleted segment, suggesting that this region may carry genes important in leukemogenesis.
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PMID:Interstitial deletion of 9q revisited. 816 32

Acute leukemia in Down syndrome (DS) is often associated with additional changes in the number or structure of chromosome 21. We present two DS patients whose leukemic karyotypes were associated with changes in chromosome 21 ploidy. Patient 1 developed acute lymphocytic leukemia (type L1); disomy for chromosome 21 was evident in all blast cells examined. Loss of the paternal chromosome in the leukemic clone produced maternal uniparental disomy with isodisomy over a 25-cM interval. The second patient had acute monoblastic leukemia (type M5) with tetrasomy 21 in all leukemic cells. DNA polymorphism analysis showed duplicate paternal chromosomes in the constitutional genotype. The maternal chromosome was subsequently duplicated in the leukemic clone. The distinct inheritance patterns of chromosome 21 in the blast cells of these patients would appear to indicate that leukemogenesis occurred by different genetic mechanisms in each individual.
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PMID:Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. 858 82

A short review of chromosome 21 abnormalities in acute lymphoblastic leukemia (ALL) is presented. Trisomy and polysomy 21 are nonrandom anomalies that are frequently observed in ALL. Their occurrence, although not specific, as well as the high incidence of acute leukemia in subjects with constitutional trisomy 21, suggests that chromosome 21 plays a particular role in leukemogenesis. More specific to ALL, t(12;21)(p13;q22), resulting in a fusion TEL-AML1, gene has recently been shown to be the most frequent translocation in childhood B-cell lineage ALL (20-30% of cases). In addition, the importance of analysis of marker chromosomes with fluorescence in situ hybridization (FISH) techniques is underscored as partial amplifications or rearrangements of chromosome 21 may be implicated.
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PMID:Acute lymphoblastic leukemia and chromosome 21. 907 85

Children with Down syndrome (DS) have a 10-20-fold increased risk of acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML), compared to non-DS children. The myeloid leukemia that accounts for nearly 50% of DS leukemias is usually the otherwise uncommon megakaryoblastic type (AML-M7). Though an etiological role of trisomy 21 in leukemogenesis has been suggested, the expression of genes on chromosome 21 in relation to trisomy, DS, and specific DS phenotypes such as leukemia is poorly understood. We used a heterologous-mimic competitive RT-PCR technique to measure the mRNA levels of a chromosome 21 tumour invasion and metastasis factor (TIAM1) directly in bone marrow samples of DS leukemic patients. In the limited number of cases analysed so far, we found TIAM1 mRNA levels in the DS AML-M7 samples of bone marrow taken in the acute phase of the disease (presentation or relapse, n=8) to be highly significantly raised, nearly threefold, compared to that measured in the remission samples or normal individuals (normals + remissions, n=10).
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PMID:Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7). 971 98

We report five cases of myeloid disorders in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality, comprising two cases of acute myeloid leukemia (AML) and three cases of myelodysplastic syndrome (MDS). In this series, MDS patients with +21 presented as high grade disease, which included two cases of refractory anemia with excess of blasts (RAEB) and one case of refractory anemia with excess of blasts in transformation (RAEBt), and showed rapid disease progression. Significant thrombocytopenia was observed in all three patients, and bone marrow examination showed a marked reduction in megakaryocytes. AML patients with +21 included one case each of AML-M2 and M4. Despite the poor prognosis reported in AML patients with +21 as the sole abnormality, the patient in our series who was able to complete intensive treatment was cured of disease. The role of +21 in leukemogenesis is reviewed.
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PMID:Trisomy 21 as the sole acquired karyotypic abnormality in acute myeloid leukemia and myelodysplastic syndrome. 1057 14


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