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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trisomy 8 is seen in a range of disorders both constitutional and acquired. The full constitutional condition presents with physical stigmata, skeletal abnormalities and a mild to moderately retarded IQ. Trisomy 8 is frequently seen as a mosaic in the blood or in the skin or both. Trisomy 8 as an acquired condition is found in haematological disorders, notably in myelodysplasia (MDS) and acute myeloid leukaemia (AML), and is restricted to the malignant cells. These arise in the bone marrow and may also be found in the peripheral blood. Reported in the issue (Zollino et al. (1995) Leukemia Res. 19(10), 733) is a case of a patient with constitutional trisomy 8 mosaicism who developed myelodysplasia with trisomy 8 in 95-100% of bone marrow cells. Here we consider the implications of this case to the diagnosis of both malignant and constitutional conditions.
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PMID:Constitutional and acquired trisomy 8. 750 Jun 51

The mechanisms of extramedullary leukemic infiltration are not well characterized. The cell-surface glycoprotein CD56, which is identical to the neural cell adhesion molecule, may be involved. Using the Leu-19 antibody and flow cytometric methods, the leukemic blasts of 22% (70 of 314) of patients were CD56 positive. This was most common in acute monocytic leukemia (15 of 18, 83%) and in patients with the cytogenetic abnormalities t(8;21) (seven of 13, 54%) and trisomy 8 (nine of 22, 41%). CD56 expression was not associated with extramedullary leukemic infiltration, but was correlated with positivity for CD11b (p < 0.001), CD14 (p < 0.001) and CD19 (p = 0.018). Although associated with morphologic and cytogenetic features, CD56 expression alone cannot account for most instances of tissue infiltration in acute myeloid leukemia (AML).
Leukemia 1994 May
PMID:Investigation of karyotypic, morphologic and clinical features in patients with acute myeloid leukemia blast cells expressing the neural cell adhesion molecule (CD56). 751 47

Analysis of most hematologic neoplasms indicates the involvement of one or more cell lineages in the bone marrow and/or the blood but rules out the involvement of all lineages in any one neoplasm. It is important to detect lineage involvement in order to clarify which stem cells are involved in leukemia, to predict prognosis, and to select appropriate treatment. Our aim was to study the cell lineage involvement of some of the recurrent chromosomal abnormalities seen in hematological neoplasms. The direct morphology-antibody-chromosomes (MAC) method was used. The deletion 20q in myeloproliferative diseases (MPD), the deletion of 5q and t(1;7) in myelodysplastic syndromes (MDS), and t(3;3) in acute myeloid leukemia subtype M7 (AML-M7) were seen in all or at least in two myeloid lineages. These were interpreted as stem cell abnormalities. Deletion 13q in MPD, t(8;21) in AML-M2 and t(15;17) in AML-M3 were seen in granulocytic lineages only; t(14;18) in non-Hodgkin's lymphoma and trisomy 12 as the sole abnormality in chronic lymphocytic leukemia (B-CLL) were seen only in immunoglobulin light chain clonal B cells; inversion 14 in T-CLL was seen only in T cells, whereas t(15;14) in acute lymphocytic leukemia with eosinophilia (ALL-EO) was seen in lymphoid stem cells but not in mature granulocytes or lymphocytes. Additional abnormalities (in addition to the Philadelphia chromosome) in chronic myeloid leukemia (CML) were seen in all myeloid cell lineages and also in mature granulocytes, B cells, and large granular lymphocytes. Abnormalities in Hodgkin's disease were restricted to CD30-positive Reed-Sternberg cells. Trisomy 8 and monosomy 7 are abnormalities that may be present in either stem cells or any of the single cell lineages.
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PMID:Cell lineage involvement of recurrent chromosomal abnormalities in hematologic neoplasms. 752 Feb 72

Interphase cytogenetics was used to investigate the clonal origin of bone marrow (BM) cells, peripheral blood (PB) cells, and in vitro cultured progenitor cells of five patients with acute myeloid leukemia (AML) and myelodysplasia (MDS). A new in situ hybridization (ISH) technique was used to examine the origin of the progenitor cells. Two patients with respectively, trisomy 8 and polyploidy as ISH marker were studied both at presentation and during remission. At presentation, the in vitro cultured clusters of both cases appeared diploid. Therefore, despite the abnormal growth patterns, the cultured progenitors could have been residual normal cells. Alternatively, they could have originated from a preleukemic clone with a normal karyotype. In both cases abnormal BM and/or PB cells (less than 6%) were detected with ISH during remission, indicating partially or completely clonal remissions in these patients. Both patients have relapsed. One patient with trisomy 10 as ISH marker was analyzed during myelodysplastic phase and after progression to AML. On both occasions, abnormally appearing clusters were cultured. However, only part of the clusters carried trisomy 10. The presence of a subclone characterized by trisomy 10 and an abnormally growing (pre)leukemic clone without trisomy 10 may explain this observation. Monosomy 1 and 17 were respectively used as ISH markers in two other AML patients. All in vitro cultured clusters carried the numerical abnormality. Long-term liquid cultures of these leukemias were performed for 10-20 days. In both cases, no residual normal clonogenic cells could be detected. Therefore, the selective growth advantage of normal progenitor cells in long-term marrow cultures could not be demonstrated in these two patients with leukemia. This paper illustrates the usefulness of ISH to study the biology of AML at the clonogenic level during preleukemic phase, active disease, remission, and under in vitro culture conditions. It is a sensitive technique which allows individual analysis of large numbers of small aggregates and single cells in culture.
Leukemia 1995 Jul
PMID:Clonal analysis of progenitor cells by interphase cytogenetics in patients with acute myeloid leukemia and myelodysplasia. 763 Jan 92

Individuals with Down syndrome have an increased incidence of leukemia compared to the general population. In addition, Down syndrome children may acquire a myeloproliferation that resembles acute leukemia that undergoes a spontaneous, durable remission. To clarify the relationship between these two disorders, the morphologic, immunophenotypic and cytogenetic characteristics of 28 patients with Down syndrome and the morphologic manifestations of acute leukemia were examined. Three cytomorphological groups were discerned. The first two groups consisted of five patients with acute lymphoblastic leukemia (group I) and three patients with acute myeloid leukemia (group II). These leukemias resembled those of non-Down individuals. The third and largest group (group III) consisted of 20 cases of acute myeloid leukemia that showed prominent megakaryocytic and/or erythroid differentiation and occurred in children under 6 years of age. The blasts in this group were non-reactive for myeloperoxidase or non-specific esterase and expressed CD7, CD34 and CD36 with variable expression of CD61, CD13 and CD33. Four patients in this group had an acquired trisomy 8. Four group III leukemias underwent a durable, spontaneous remission within 2 months of diagnosis. There were no morphologic differences between those leukemias in this group that progressed and those that remitted; however, all remissions occurred in newborns. It is concluded that Down syndrome children acquire a characteristic acute myeloid leukemia that has prominent megakaryocytic and/or erythroid differentiation and an unusual immunophenotype. This group of leukemias may undergo a durable, spontaneous remission in the newborn period.
Leukemia 1995 Sep
PMID:Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: morphologic, immunophenotypic and cytogenetic manifestations. 765 8

A group of 201 adult patients, 127 younger and 74 older than 55 years, with de novo acute myeloid leukemia were investigated to determine the prognostic significance of karyotype on early death (toxic or aplastic death occurring before hematopoietic recovery), drug resistance, continuous complete remission (CCR) and survival probabilities at 5 years. A good prognostic impact was found for t(8;21), t(15;17) and inv(16). The best factor proved to be t(8;21) (5-year survival probability: 50%), followed by t(15;17) (5-year survival probability: 39%) and by inv(16) (5-year survival probability: 43%). An intermediate outcome was found in patients with trisomy 8 (27% alive at 5 years) and in patients with numerical abnormalities other than -7 and +8 (33% in CCR and 62% alive at 5 years). Normal karyotypes had a different prognostic impact according to age: intermediate in young and good in older patients. A poor outcome was observed among patients with del(5q)/-5 (median survival: 1 month), with 11q23 rearrangements (median survival: 1.5 months) and with del(7q)/-7 (median survival: 10 months). The 'other structural change' group was also found to be a poor risk population (5-year survival probability: 5%) whereas complex karyotypes were predictive of short survivals only in older patients. Conversely, del(7q)/-7 and +8 as secondary changes, had no prognostic impact.
Leukemia 1995 Sep
PMID:Prognostic significance of karyotype in de novo adult acute myeloid leukemia. The BGMT group. 765 18

Myelodysplastic syndrome (MDS) in childhood is considered to be very rare, but sound epidemiologic data are lacking. We report a population-based study of MDS in Denmark from 1980 to 1991. The medical charts were reviewed of 988 children identified from the Danish National Hospital Discharge Registry with a diagnosis of myeloid leukemia or blood cytopenia. Blood and bone marrow smears from all cases of possible MDS were re-evaluated. The cases were categorized according to the FAB classification, with the exception of chronic myelomonocytic leukemia (CMML) in which more than 5% myeloblasts in the blood was accepted. Juvenile chronic myeloid leukemia (JCML) was included as CMML. MDS was diagnosed in 46 children representing 9% of all hematologic malignancies in children less than 15 years of age. The annual incidence was 4.0/million and did not increase with time. Refractory anemia with excess of blasts and CMML each accounted for one third of the cases. Down syndrome was present in seven children. Other predisposing conditions included Fanconi anemia, neurofibromatosis, constitutional trisomy 8 mosaicism, and familial leukemia. Only one child had therapy-related MDS. The study indicates that the incidence of childhood MDS is higher than generally assumed and approximate to the incidence of acute myeloid leukemia.
Leukemia 1995 Sep
PMID:Childhood myelodysplastic syndrome in Denmark: incidence and predisposing conditions. 765 25

We report a patient who developed Philadelphia chromosome negative acute myeloblastic leukaemia with trisomy 8 and trisomy 11 after receiving treatment with alkylating agents and interferon for chronic myelocytic leukaemia positive for Philadelphia chromosome. Leukaemic cells were positive for myeloperoxidase and expressed CD13, CD33 and DR; some expressed CD2, CD4 and CD34. The fluorescence in situ hybridization method revealed that bcr-abl fusion genes were absent from > 90% of the bone marrow cells. The major bcr rearrangement was not detected by Southern blot analysis. We conclude that the leukaemic cells negative for Philadelphia chromosome may have developed as a result of treatment with alkylating agents and interferon in the present case.
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PMID:Acute myeloblastic leukaemia without Philadelphia chromosome developing after interferon therapy for chronic myelocytic leukaemia with Philadelphia chromosome. 766 78

Chronic myelogenous leukemia (CML) is a stem cell disorder which progresses from a chronic phase (CP) to an accelerated phase (AP), and/or a blast phase (BP) of myeloid (M) or lymphoid (L) phenotype. This progression is frequently preceded or accompanied by recurring secondary chromosomal abnormalities which are believed to play a role in the transformation. In order to investigate the relationship between the secondary change and the development of BP, we undertook a study using fluorescence in situ hybridization to determine in which cells the secondary abnormalities were present. We observed that in one case of L-BP, the secondary change (trisomy 8) appeared to be in a subclone that was different from the blast cells, as it was absent from the lymphoblasts but present in differentiating erythroid, monocytic and granulocytic cells. In two cases, the secondary change (trisomy 8, extra Ph) probably occurred prior to an acute transforming event as it was present in CP or AP predominantly in differentiated granulocytic or monocytic cells. In one case of M-BP, the secondary change (trisomy 8) probably occurred after the acute transformation, as it appeared in only a subset of the blasts. Lastly, in four cases of L-BP, the secondary change (monosomy 7, extra Ph or hyperdiploidy) was closely associated with the BP as it was present in all of the blasts. The findings indicate that some secondary abnormalities may be directly related to the development of BP and may provide clues to the identity of genes responsible for the acute phase transition. Other abnormalities occurring before, or after the acute transformation or in a different subclone from the acute phase blasts, may be more important for denoting genomic instability than for helping to understand the mechanism of blast transformation.
Leukemia 1995 Apr
PMID:The relationship between secondary chromosomal abnormalities and blast transformation in chronic myelogenous leukemia. 772 96

The t(1;19)(q23;p13) translocation occurs commonly in B-lineage ALL. Previous reports have demonstrated a predominance of cases with expression of cytoplasmic Ig mu (C mu+), and FAB L1/L2 phenotype, a poor prognosis and expression of a fusion transcript involving the E2A and PBX1 genes in C mu+ but not in C mu- cases. Of 38 patients with karyotypically proven t(1;19) (q23;p13) leukaemias, we extensively analysed 18 patients with acute leukaemia including 16 B-lineage ALLs, one T-ALL and one AML M4. The AML was associated with a classic E2A-PBX1 fusion transcript and may represent the human counterpart of the AMLs induced by E2A-PBX1 retroviral infection of murine marrow progenitors. The T-ALL was E2A-PBX1 negative and neither the E2A nor the LYL-1 genes, both situated at chromosome 19 p13, were rearranged. Of the 16 B-lineage ALLs, four had cytological features resembling an 'L3-like' phenotype classically associated with Burkitt's lymphoma, two at diagnosis and relapse and two exclusively at relapse. E2A-PBX1 fusion transcripts were detected by RT-PCR in all 13 C mu+ patients and in 2/3 C mu- cases. The 'L3-like' phenotype did not correlate with a particular stage of maturation arrest (one sIg+, one C mu+, one C mu-) or type of E2A-PBX1 transcript, but was associated in all cases with a trisomy 8. Translocation, rearrangement, amplification or over-expression of the c-myc gene was not observed in these cases, demonstrating that the apparent association with trisomy 8 is not due to deregulation of this gene. We therefore show that the E2A-PBX1 transcript, although occurring predominantly in C mu+ pre-B ALL, also occurs in C mu- early pre-B ALL, sIg+ B-ALL and even in AML. These results suggest that the stage of maturation arrest, and indirectly the prognosis, are not solely due to the type of fusion transcript associated with the t(1;19).
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PMID:Heterogeneity of t(1;19)(q23;p13) acute leukaemias. French Haematological Cytology Group. 773 49


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