Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023467 (acute myeloid leukemia)
 35,200 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six patients with M4 acute myelomonocytic leukemia ( AMMoL ) were identified who had abnormalities of chromosome 16 in bone marrow cells. Five had a pericentric inversion, inv(16)( p13q22 ), and a sixth patient had a translocation, t(16;16)(p13.1;q22). Each of these six patients had bone marrow eosinophils that were abnormal in morphology on light and/or electron microscopy and by cytochemical stains. The eosinophils constituted 1%-24% of nucleated marrow cells. Of 61 acute nonlymphocytic leukemia (ANLL) patients, all those with AMMoL and abnormal bone marrow eosinophils had an inv(16) or a t(16;16). One other patient in this group had a rearrangement of chromosome 16 (with a break in the short arm at band p13); however, the ANLL type was M1 and no abnormal eosinophils were present. Four patients with ANLL types other than M4 had an increase in marrow eosinophils; three in whom the eosinophils appeared normal and one with ANLL-M2 and bizarre eosinophils morphologically distinct from those seen in AMMoL . Chromosome pair 16 was normal in the latter four patients. AMMoL with dysplastic bone marrow eosinophils appears to represent a unique clinicopathologic entity associated with several related abnormalities affecting 16q . The morphologic features of both blasts and eosinophils may be more important than the absolute number of eosinophils in the marrow in identifying this group of patients. This may have prognostic importance as five of six patients achieved complete remission with standard antileukemic therapy and are still alive.
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PMID:Abnormalities of chromosome 16 in association with acute myelomonocytic leukemia and dysplastic bone marrow eosinophils. 658 18

Using a methotrexate cell synchronization technique, we have successfully studied chromosome preparations of bone marrow biopsies from 49 of 51 patients with acute nonlymphocytic leukemia (ANLL). Clonal chromosomal abnormalities were detected in 46 patients, and one of eight types of recurrent chromosomal aberrations were found in 31 patients. One of these types represents a new chromosome defect [inv(16)(p13.1q22)], found in four patients with ANLL-M2, -M4. Chromosome preparations from cultured lymphocytes of two of the four patients were analyzed for the presence of chromosome fragile sites. Both cases showed a frequent break at band 16q22, an intriguing finding that suggests a possible correlation between a fragile site and predisposition to chromosomal rearrangement in human neoplasia.
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PMID:Recurrent chromosomal defects are found in most patients with acute nonlymphocytic leukemia. 669 34

Chromosomal breakpoints associated with malignancy are known to cluster at particular regions of the karyotype. Based on a review of the literature we have identified a novel leukaemia syndrome associated with translocations involving 8p11. This syndrome is distinct from the previously described translocation t(8;16)(p11;p13) associated with acute monoblastic leukaemia. We have summarized the clinical and cytogenetic features of 13 case reports which describe a myeloproliferative syndrome with eosinophilia, lymphadenopathy and a high incidence of T cell non-Hodgkin's lymphoma with progression to acute myeloid leukaemia. The translocations involving 8p11 were: either t(8;13)(p11-12;q11-12), t(8;9) (p11;q32-34) or t(6;8)(q27;p12). In two cases of t(8;13) molecular studies have mapped the chromosome 13 breakpoint to a 1.5 Mbp region, but a full molecular characterization of these translocations is required. In view of the striking clinicopathological and karyotypic similarities between these cases we propose that they be considered a single nosological entity and termed '8p11 myeloproliferative syndrome'.
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PMID:A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. 868 12

The pericentric inversion of chromosome 16 [inv(16)(p13q22)] and t(16;16)(p13;q22) are chromosomal rearrangements frequently associated with AML FAB type M4Eo resulting in the production of a fusion gene CBFB/MYH11. We studied 17 patients with a chromosome 16 abnormality (eight M4Eo, two M1, one M2, three M4 without abnormal eosinophils, three MDS) for the presence of CBFB/MYH11 transcripts using an RT-PCR technique. 10 AML patients with inv(16) tested RT-PCR positive (eight at presentation, one in remission, one in remission and relapse). Three of these patients were originally reported by cytogenetic analysis to have del(16q22) but the positive RT-PCR results prompted a cytogenetic re-examination, resulting in the correction of the reports to inv(16). We show that although inv(16) is closely associated with AML M4Eo, it can also be detected in cases of AML M4 without abnormal eosinophils. Three cases of MDS with inv(16) were also RT-PCR positive. Four patients with other chromosome 16 abnormalities were RT-PCR negative. Four AML patients with inv(16) were studied in remission. All were RT-PCR positive, including one patient in remission for 108 months and one 22 months post allogeneic bone marrow transplant. In the latter two remission patients, RT-PCR evaluation was positive in bone marrow (BM) but not in peripheral blood, suggesting that BM may be the more informative. We conclude that this technique is valuable in the accurate molecular classification of AML, particularly as treatment options may be influenced by such information. Though RT-PCR is highly sensitive in detecting CBFB/MYH11 fusion transcripts during remission, monitoring of minimal residual disease in patients with inv(16) remains to be established.
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PMID:Detection of CBFB/MYH11 transcripts in patients with inversion and other abnormalities of chromosome 16 at presentation and remission. 757 15

A family is described in which two sisters developed acute myeloblastic leukemia (AML FAB M2) and erythroleukemia (FAB M6) at ages 60 and 53, 15 years apart. Their father was diagnosed as having chronic erythremic myelosis (DiGuglielmo syndrome) 24 years earlier at age 56. Cytogenetic analysis of bone marrow blasts in the patient with AML M2 revealed a complex hyperdiploid karyotype with clonal abnormalities -3, -5, del(5)(q13q23), -8, +i(8)(q10), -11, add(11) (q23), add(12)(p13), -13, +3mar. No environmental risk factors could be identified. Hematologic and cytogenetic analysis of all living first degree relatives of the affected persons revealed hematological abnormalities, but normal constitutional karyotypes of peripheral blood lymphocytes and no induction of cytogenetic abnormalities in folate deficient medium.
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PMID:Familial acute myeloid leukemia and DiGuglielmo syndrome. 759 75

Diagnostic accuracy in acute leukemia (AL) can be improved if traditional morphology and cytochemistry are supplemented with immunophenotypic and genotypic analyses. This multiparameter approach is of crucial importance for the management of patients, as it enables the identification of leukemic syndromes with distinct biological features and response to treatment. Immunophenotyping using monoclonal antibodies has been universally accepted as a useful adjunct to morphological criteria. This technique is particularly valuable in diagnosing and subclassifying acute lymphoblastic leukemia and is also essential in certain types of acute myeloid leukemia (AML), such as AML with minimal differentiation or acute megakaryoblastic leukemia. Cytogenetic findings can be quite helpful in establishing the correct diagnosis and can add information of prognostic significance. A number of specific chromosomal abnormalities have been recognized that are very closely, and sometimes uniquely, associated with morphologically and clinically distinct subsets of leukemia. An even more basic understanding of normal and malignant hematopoietic cells has begun to evolve as molecular biology begins to unravel gene misprogramming by Southern and Northern blot analysis, the polymerase chain reaction, and fluorescence in situ hybridization. With the extensive use of these techniques it has become apparent that a proportion of leukemias exhibit the biologically relevant molecular defect in the absence of a karyotypic equivalent. On the other hand, apparently uniform chromosomal abnormalities such as the t(1;19) (q23;p13), t(9;22) (q33;q11), t(8;14) (q24;q32), or t(15;17) (q21;q21) may differ at the molecular level. Data collected from these modern technologies have introduced a greater complexity, which needs to be taken into consideration to improve both the diagnostic precision and the reproducibility of current classifications.
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PMID:Contribution of immunophenotypic and genotypic analyses to the diagnosis of acute leukemia. 763 14

Cytogenetic abnormalities of band 11q23 have been found in more than 50% of infant leukemias regardless of the phenotype. Using probes for the MLL gene at 11q23, MLL rearrangements have been identified in 70-80% of all infant leukemias including virtually all of the cases with 11q23 translocations, as well as cases with apparently normal karyotypes. We reviewed the chromosomal pattern of 26 cases of infant leukemias (12 ALL, 12 AML, two AUL). Eleven had 11q23 translocations, five had other abnormalities, and 10 had a normal karyotype. To determine whether 11q23/MLL rearrangements were present in the leukemia cells of patients with a normal karyotype, we performed FISH and molecular studies of eight of these patients who had adequate material. Three were found to have 11q23/MLL abnormalities, two of them detected by FISH; one ALL case had a t(11;19) (q23;p13.3), and one AML case had a t(11;19) (q23;p13.1). Retrospective review confirmed the presence of the t(11;19) in a small percentage of poor quality metaphase cells in both cases. A rearrangement of the MLL gene was detected by Southern blot analysis of leukemic cells from a third patient with ALL; one cell with a deletion of 11q23 was found on karyotypic review. Therefore, in our series the actual incidence of 11q23 abnormalities in infant leukemias was 54% (14/26): 67% in ALL (8/12) and 50% in AML (6/12). Our findings suggest that most infant leukemias with apparently normal karyotypes that have a molecular rearrangement of the MLL gene are undetected subtle translocations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Detection of 11q23/MLL rearrangements in infant leukemias with fluorescence in situ hybridization and molecular analysis. 764 16

A case of therapy-related AML with t(8;16)(p11;p13) 14 months following the end of anthracycline-containing chemotherapy for a nonmetastatic osteosarcoma of the left tibia is presented. The patient was successfully treated with intensive remission-induction chemotherapy. Subsequently, he underwent an uncomplicated allogeneic bone marrow transplantation from his HLA-identical brother and is at present alive and disease-free 10 months after diagnosis of the secondary AML.
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PMID:Therapy-related acute myeloid leukemia with t(8;16)(p11;p13) following anthracycline-based therapy for nonmetastatic osteosarcoma. 766 38

A child, who received successful chemotherapy for pneumoblastoma, developed a myelomonocytic leukemia with translocation t(11;19)(q23;p13) 2 years later. Although this leukemia did not present with features generally associated with therapy-related leukemias, we think this hematologic disease to be secondary to previous chemotherapy. Involvement of chromosome 11q23 is common in acute leukemia and seems to be more significantly related to ANLL in young children (M4 and M5 FAB classification). However, our observation and previous reports suggest that this chromosomal abnormality might be more frequent in therapy-related leukemias. The responsibility of etoposide and cisplatin may be discussed in such secondary malignancies.
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PMID:Translocation t(11;19) (q23;p13) in a child with myelomonocytic leukemia following 2 years after chemotherapy for pneumoblastoma. 767 64

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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