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

A 10-week-old girl without Down syndrome developed an acute megakaryoblastic leukemia (AMKL). Bone marrow aspirates and biopsy showed megakaryoblastic infiltration with myelofibrosis. The diagnosis was made based on the findings that the positive reactions of leukemic cells to platelet peroxidase and to monoclonal antibodies which recognize platelet-specific surface glycoprotein (GP) IIb/IIIa and GP78. The blasts also showed myeloid and monocytoid differentiation antigens. The leukemic cells had a karyotype of 46,XX,t(1;22)(p13;q13). Our case and two other infantile cases reported by other investigators establish the novel association of the t(1;22) with AMKL.
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PMID:Acute megakaryoblastic leukemia with translocation t(1;22)(p13;q13) in a 10-week-old infant. 131 Nov 46

We previously demonstrated that the 11q23 breakpoint region, designated the RCK locus, of the RC-K8 B-lymphoma cell line with t(11;14)(q23;q32) is centromeric to PBGD, while breakpoints of infantile leukemia cell lines with t(11;19)(q23;p13) are detectable by pulsed-field gel electrophoresis with the CD3D probe. In the present study, using a probe within 1.0 kilobase of the t(11;14) breakpoint, we isolated a partial complementary DNA clone for the putative RCK gene, which detects a 7.5-kilobase mRNA. Sequence analysis predicted a novel protein of 472 amino acids which demonstrated sequence homology to a translation initiation factor/helicase family. We also isolated a phage clone from the CD3D/G yeast artificial chromosome clone (yB22B2) which detects 11- and 12-kilobase mRNAs, most likely for the MLL/ALL-1 gene associated t(4;11)(q21;q23) and t(11;19)(q23;p13) translocations. By pulsed-field gel electrophoresis after NotI digestion, this recombinant clone is on a 96-kilobase fragment, while RCK and PBGD probes are on a more telomeric 690-kilobase NotI fragment. These results, altogether, suggested that two different genes, RCK and MLL/ALL-1, are associated with 11q23 translocation of hematopoietic tumors.
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PMID:The RCK gene associated with t(11;14) translocation is distinct from the MLL/ALL-1 gene with t(4;11) and t(11;19) translocations. 139 35

Six infants with acute megakaryoblastic leukemia and a translocation (1;22)(p13;q13) were studied. There were five female infants and one male infant, and the age at initial examination varied from 0.8 to 6.5 months (median, 2.3 months). All the patients had hepatosplenomegaly and anemia (6 to 8.3 g/dL), and four patients had thrombocytopenia (9,000 to 63,000/mm3). The bone marrow showed prominent fibrosis in five cases and reticulin fibrosis in one patient at presentation. Crush artifact often made the histologic sections difficult to interpret, but typical megakaryoblasts could be identified in the smears. Biopsy specimens of the liver and lymph node were suggestive of a nonhematopoietic malignant condition because of the cohesiveness of the tumor cells, stromal fibrosis, and the prominent sinusoidal and vascular pattern of infiltration. Immunophenotyping of peripheral blood mononuclear cells was helpful in identifying the blasts as belonging to the megakaryoblastic lineage. Using a panel of mononclonal antibodies, it was also possible to confirm the nature of the infiltration in paraffin sections and to differentiate it from other childhood small round cell tumors, especially neuroblastoma in paraffin sections (typical staining pattern: CD45-, CD43+, vW Factor, Ulex europeus I+, CD20-, CD45RO-, synaptophysin-, chromogranin-, cytokeratin-, desmin-). This special type of infantile acute leukemia can be recognized with confidence if one is aware of its clinical features, peculiar pathologic characteristics, the morphologic features and immunophenotype of the megakaryoblasts, and the unique cytogenetic abnormality.
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PMID:Acute megakaryoblastic leukemia in infants with t(1;22)(p13;q13) abnormality. 151 33

Structural rearrangements involving the short arm of chromosome 12 occur in 10% of cases of childhood acute lymphoid leukemia. The translocation t(12;17)(p13;q21), an uncommon 12p abnormality, was identified in five of 2620 cases (0.2%) successfully karyotyped by the Pediatric Oncology Group or St Jude Children's Research Hospital. All five cases were classified as early pre-B; however, CD10 (common acute lymphoblastic leukemia antigen) was expressed at lower levels than other markers of B-cell lineage. Two cases also expressed the myeloid-associated antigen CD33. Leukemic cells were pseudodiploid in four cases, with an extra chromosome 21 in the fifth case. All of these patients achieved complete remission. Two relapsed during subsequent therapy, and three remain in continuous remission for greater than or equal to 20 months.
Leukemia 1992 Apr
PMID:t(12;17)(p13;q21) in early pre-B acute lymphoid leukemia. 153 30

The standard methods for classifying acute leukaemias now include morphology, cytochemistry and membrane markers. Major advances in immunology, in particular the development of monoclonal antibodies (McAb) with lineage specificity, have provided objective positive criteria for the diagnosis of acute lymphoblastic leukaemia (ALL). The FAB group has recognised the importance of McAb for the classification of some forms of acute myeloid leukaemia (AML), such as megakaryoblastic leukaemia, AML-M7, in which reactivity with McAb against platelet glycoproteins is a requirement for diagnosis. More recently the group has defined a type of myeloblastic leukaemia with minimal differentiation, AML-MO, in which myeloid cytochemistry is negative and the diagnosis is made by the expression of myeloid antigens and negative lymphoid markers in the blast cells. However, new problems have emerged with the wider use of McAb which now need to be addressed: the most important is the precise evaluation criteria for biphenotypic leukaemia for which we have proposed a scoring system in order to recognise the genuine cases which constitute a distinct disease entity. The role of karyotyping in the classification of acute leukaemia is gradually being defined (MIC proposals) and some forms of acute leukaemia can only be diagnosed by chromosome translocations, e.g. Ph+ ALL, resulting from t(9;22) and t(4;11) in infant ALL. Several translocations can also be demonstrated by molecular techniques. Cases with t(8;16) (p11;p13) are characterised by myelomonocytic features, erythrophagocytosis and fibrinolysis and represent a type of AML which can be defined primarily by its cytogenetic abnormality.
Leukemia 1992
PMID:The classification of acute leukaemia. 157 5

The recurring chromosomal 1;19 translocation in acute lymphoblastic leukemia (ALL) occurs in balanced t(1;19) (q23;p13) and unbalanced, -19, +der(19)t(1;19)(q23;p13) forms. The clinical features and outcome were compared for 30 patients with the t(1;19) and 36 patients with the der(19) forms. These were 45 children (less than 1-14 years) and 21 adults (15-54 years) (median age 9.0 years), 41 females, 25 males, with median white blood count (WBC) 20.9 x 10(9)/1. Patients were classified by karyotype thus: t(1;19) 11 cases; t(1;19) with additional change (+A) 19 cases; der(19) 17 cases; and der(19) +A, 19 cases. Non-random additional structural abnormalities included involvement of 1q, 6q, i(7q), i(9q), 9p, and 13q. The only significant difference in clinical or blast cell features between patients with the t(1;19) and the der(19) was the greater age of adults with t(1;19) (p less than 0.05). Projected median event-free survival and survival of all cases together was 22 months and greater than 112 months respectively. Neither age nor WBC contributed significantly to prognosis. For patients at all ages, prognosis of der(19) was better than t(1;19). This was statistically significant for event-free and overall survival in childhood (p = 0.02 and p = 0.01 respectively) and was independent of age (p = 0.04 and p = 0.008 respectively) and WBC (p = 0.03 and p = 0.04 respectively). Future studies should examine separately the outcome for patients with the balanced and unbalanced forms of the t(1;19).
Leukemia 1992 May
PMID:Prognostic significance of the balanced t(1;19) and unbalanced der(19)t(1;19) translocations in acute lymphoblastic leukemia. 159 1

Abnormalities of chromosome 16, including inv(16)(p13q22), del(16)(q22), and t(16;16)(p13;q22), have been reported almost exclusively in association with acute myelomonocytic leukemia and are characteristically accompanied by abnormal eosinophils with dysplastic granules in the bone marrow. We observed an inv(16)(p13q22) in two patients with typical Philadelphia chromosome positive chronic myeloid leukemia (CML). The appearance of the abnormality of chromosome 16 was associated with acceleration of disease or onset of blast crisis and with the appearance in the bone marrow of abnormal eosinophils. In both cases the marrow karyotypes were 46,XY,t(9;22)(q34;q11)/46,XY,inv(16)(p13q22),t(9;22)(q34;q11). In these two patients the temporal association of the acquisition of the inversion 16 and the appearance of monocytoid cells and dysplastic eosinophils in the bone marrow further supports the relationship of this karyotypic abnormality with leukemic monocytoid and eosinophilic evolution. This secondary cytogenetic change appears to be an infrequent manifestation of specific phenotypic disease progression in CML.
Leukemia 1992 May
PMID:Inversion of chromosome 16 and dysplastic eosinophils in accelerated phase of chronic myeloid leukemia. 159 3

Complex translocations in chronic myelogenous leukemia involve various chromosomes, in addition to chromosomes 9 and 22, in a nonrandom fashion. We have analyzed the DNA from leukemia cells characterized by a complex translocation, t(9;22;10;17)(q34;q11;p13;q21), by using the techniques of Southern blot hybridization, in situ hybridization, and molecular cloning; one of the breakpoints is at 17q21, a band that is frequently involved in complex 9;22 translocations. All of the breakpoint junctions and the corresponding normal sequences from the four involved chromosomes have been molecularly cloned. Restriction mapping is consistent with a simple concerted exchange of chromosomal material among the four chromosomes, except that additional changes appeared to have occurred within the chromosome 17 sequences. The cloned sequences on chromosome 17 at band q21 were found to be repeated in normal cells. By fluorescence in situ hybridization, a strong signal is seen at 17q21, but a weaker signal is also present at 17q23. By comparison with other primate species, an inversion in chromosome 17 during evolution appears to be responsible for the splitting of the cluster of repeat units in normal human cells.
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PMID:Molecular cloning of the breakpoints of a complex Philadelphia chromosome translocation: identification of a repeated region on chromosome 17. 159 95

We present the nonrandom occurrence, frequency, and degree of immunophenotype association of the t(1;22)(p13;q13) in children with acute nonlymphocytic leukemia (ANLL). This karyotype anomaly occurred in leukemia cells from five of 445 (1.1%) children with newly diagnosed ANLL who were successfully studied by cytogenetic analysis at four European centers between January 1987 and January 1992. The occurrence of the t(1;22) was restricted to the French-American-British classification (FAB) subtype M7. The overall incidence in children with acute megakaryocytic leukemia (AMKL) was 27.8% (5/18 cases); in infants with AMKL, the frequency of the t(1;22) was 66.7% (4/6 cases). Three of the patients carrying this anomaly had a diploid karyotype, whereas in two cases a hyperdiploid karyotype was found. However, in all five patients, the t(1;22) was the only translocation event present at diagnosis. All patients received aggressive chemotherapy for acute myelogenous leukemia (AML). Two patients died within 15 months of diagnosis without entering remission. One of three patients who entered remission died 7 months after diagnosis, most likely from intramedullar hemorrhage. Only two of the five children with the t(1;22) who received autologous bone marrow transplantation (BMT) are alive and in complete remission (CR) 23 and 40 months after diagnosis, respectively. At the time of diagnosis, the age of the oldest child carrying the t(1;22) was 18 months. The cases with this chromosome anomaly were compared with an age-matched group of five children with AMKL lacking this translocation. The patients with the t(1;22) had a lower median value of the peripheral white blood cell (WBC) count and a higher median hemoglobin level than the patients from the matched group. In the latter cases, normocellular or hypercellular bone marrow (BM) was detected at diagnosis. In contrast, all children with the t(1;22) in our series had a hypocellular BM. Histological BM analyses were available in three of these patients and showed marked fibrosis. Other clinical and laboratory parameters showed no obvious differences between the matched groups. Despite intensive chemotherapy, AMKL in children appears to be associated with a poor prognosis. The clinical courses of the children with AMKL and the t(1;22) presented may be indicative of a beneficial effect of autologous BMT in this subset of patients.
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PMID:The translocation t(1;22)(p13;q13) is a nonrandom marker specifically associated with acute megakaryocytic leukemia in young children. 159 73

The chromosomal rearrangements t(1;19)(q23;p13.3) and t(9;22) (q34;q11.2) are independent abnormalities commonly observed in the blast cells of children with acute lymphoblastic leukemia (ALL). We report three children whose leukemic cells contained both translocations at diagnosis. The patients, two males aged 3 and 8 years and a female aged 14 years, all presented with central nervous system involvement. One patient exhibited a pre-B leukemic phenotype (cytoplasmic immunoglobulin, cIg, positive), while two had an early pre-B phenotype (cIg negative). All three patients received radiotherapy and multiagent chemotherapy which included an epipodophyllotoxin in two patients. Two patients suffered relapses of ALL, in both cases with disappearance of t(1;19)-containing clones but persistence of t(9;22). The two patients who received an epipodophyllotoxin as part of their chemotherapeutic regimen both developed secondary myeloid leukemia with entirely new cytogenetic findings, including abnormalities of chromosome band 11q23. These patients are the first to be described with this unusual combination of cytogenetic abnormalities.
Leukemia 1992 Jun
PMID:Childhood acute lymphoblastic leukemia with both t(1;19) and t(9;22). 160 92


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