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Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with chronic myeloid leukemia showed clonal karyotypic evolution, with the appearance of an i(17q) and t(9;11)(p22;q23). This case sheds light upon leukemogenic events related to t(9;11)(p22;q23). The presence of t(9;22) and t(9;11) in the same clone showed that t(9;11) may affect a pluripotent stem cell, thus accounting for t(9;11) in both lymphoid and monocytic leukemias. In this patient, t(9;11) could not be related to a prior cytotoxic exposure and was instead the result of natural evolution of chronic myeloid leukemia. Furthermore, this led us to assume that the phenotype of blast cells may be determined by a chromosome abnormality. A phenotypic conversion from myeloblastic to undifferentiated morphologic aspect was observed when t(9;11) was detected, suggesting that t(9;11) may have induced a loss in differentiation of blast cells affected by this change. This assumption is in agreement with the putative presence of genes activated in pluripotent progenitors by 11q23 rearrangements.
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PMID:t(9;11)(p22;q23) translocation in blastic phase of chronic myeloid leukemia. 142 24

A Ph-positive chronic myelocytic leukemia (CML) patient was clinically and cytogenetically evaluated during a 12-year period. She acquired a supplementary chromosome abnormality, t(4;9)(q21;p22), at least 5 years prior to transformation to blastic phase. Her blast crisis was accompanied by characteristic chromosome changes, such as trisomy 1, trisomy 17, and multiple Ph chromosomes.
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PMID:Philadelphia chromosome-positive chronic myelocytic leukemia with a supplementary t(4;9)(q21;p22) and long survival. 345 57

Chromosome studies on bone marrow cells and unstimulated peripheral lymphocytes from a patient with chronic myelogenous leukemia revealed the presence in all cells of two apparent Philadelphia chromosomes: one resulting from the classical translocation with a chromosome #9, and the other arising from a translocation between chromosomes #22 and #7. There was no normal chromosome #22. Some of the cells also had an i(17q), indicative of blast crisis. Repeated chromosome studies at different times during the course of the disease revealed the evolution of additional karyotypic changes. All cells from later samples had an extra #8; some of these cells had a third Philadelphia chromosome, whereas, others had a second Y chromosome. Although a few normal cells were seen in PHA-stimulated lymphocyte cultures, indicating that the patient has a normal constitutional karyotype, most of the cells had a karyotype identical to that found in unstimulated cultures. This unusual karyotype, 46,XY,t(7;22)(p22;q11),t(9;22)(q34;q11), represents the first case in which two apparent Philadelphia chromosomes are present in the leukemic cells from a patient in the absence of a normal #22 chromosome.
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PMID:Two apparent Philadelphia chromosomes arising from translocations with different chromosomes in a patient with CML: 46,XY,t(7;22)(p22;q11),t(9;22)(q34;q11). 345 23

The karyotypes in six patients with Ph-positive chronic myelogenous leukemia (CML) were investigated during the lymphoid crisis associated with high levels of terminal deoxynucleotidyl transferase (TdT) and/or the common acute lymphoblastic antigen (CALLA). Five of the six patients had only the Ph chromosome, with no other karyotypic abnormalities. The remaining one patient had a hypodiploid karyotype: 44,XY, -1, + der(1;?)(p22;?), -3, -4, -6, -7, -8, -9, +22q-, + mar1, + mar2, + mar3. In four patients with lymphoid crisis expressing TdT and CALLA, the response to treatment with vincristine (VCR) and prednisolone (PRD) was satisfactory, except for the one patient whose karyotype was hypodiploid. A discussion is presented as to whether or not there is a correlation between the karyotypic changes, using banding methods, and TdT expression in patients whose blast cells were categorized morphologically as lymphoblastic at the onset of the blastic phase of CML. Sequential chromosome examinations during the chronic and blastic phases of CML were also performed in this study.
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PMID:Chromosomal abnormalities in lymphoid crisis of chronic myelogenous leukemia. 385 69

This paper reports a 28-year-old woman with Philadelphia chromosome (Ph1)-positive chronic myeloid leukemia (CML) who developed two marrow cell lines during the blastic phase: one with the translocation (12;X) (q 11;p22) and the other with the translocation (4;6) (p 16;q 25). The literature on involvement of chromosomes 12 and X in translocations and the appearance of 6 q- aberration in CML is summarized. The relationship between the 6 q-aberration and the blast cells with lymphoid appearance in the plastic phase of CML is discussed.
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PMID:Translocations (4p+; 6q-) and (12q-; Xp+) in blastic phase of a Ph1-positive chronic myeloid leukemia. 659 3

Chromosome analysis of bone marrow (BM) aspirate from a 36-year-old man with chronic myeloid leukemia (CML) in blastic phase (BP) showed a four-break rearrangement t(11;9)(9;22)(q23; p22q34;q11), which can be considered a t(9;22)(q34;q11) and a secondary t(9;11)(p22;q23). It is not surprising that additional chromosome abnormalities occur in patients with Ph-positive CML in BP, but it is of interest that t(9;11)(p22;q23), characteristic of acute myeloid leukemia French-American-British (FAB) type M5 (ANLL-M5) was observed. The possible meaning of this additional change in BP of CML is discussed.
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PMID:Blastic phase chronic myeloid leukemia with a four-break rearrangement: t(11;9)(9;22)(q23;p22q34;q11). 835 4

Cytogenetic and molecular studies were made in 4 patients with Ph negative chronic myelogenous leukemia (CML) and 4 patients with CML with unusual Ph translocation. Chromosome analysis was performed on direct preparations and short-term cultures of bone marrow cells by R and G bandings. Southern blot analysis of DNA from leukemia cells was made using 4.5kb bcr-u and 1.5kb bcr-HE probes. Four patients with Ph negative CML had normal karyotypes. Among them, 3 had rearrangement of bcr, and 1 expected germ line pattern only. In the 4 patients with CML with unusual Ph translocation who had bcr rearrangement, one had a masked Ph chromosome originating from a translocation t(3;22) (p22;q11), the other three had one of the following complex Ph translocations: t(9;22;13) (q34;q11;q21), t(3;14;22) (p21;q32;q11) and t(X;9;22;12) (q22; q34; q11; q24). Our data confirmed that Ph negative CML could be divided into two different subsets: Ph-bcr+ CML and Ph-bcr-CML and that whatever the type of translocation may be, CML with unusual Ph translocation and Ph positive CML had a common molecular pathological basis.
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PMID:[Cytogenetic and molecular studies in patients with chronic myelogenous leukemia without Ph chromosome and with unusual Ph translocation]. 839 13

Three consecutive cases of pediatric myelodysplastic syndrome (MDS) diagnosed over a three-year period in Queen Mary Hospital, Hong Kong, were described. Depending on the classification system used, they comprised two cases of chronic myelomonocytic leukemia (CMMoL) of which one can be reclassified as juvenile chronic myeloid leukemia (JCML) and one cases of refractory anemia with excess of blasts (RAEB) or an alternative diagnosis of atypical CML. Cytogenetic abnormalities were detected in all of them on examination of bone marrow cells. Of the two CMMoL, one had monosomy 21, whereas the other had hypodiploidy. The patient with RAEB had a complex karyotype of 46,X,del(X)(q24),t(1;7) (p22;q32),add(15)(q26)(8). The balanced translocation (1;7) seen in this patient was exceedingly rare and, to the best of our knowledge, was reported only twice in the literature. The karyotypic abnormalities that we saw in our patients were not well recognized in pediatric MDS. This report emphasizes the importance of cytogenetic study in children suspected of suffering from MDS, which remains a rare disorder of childhood, and a need to rationalize current classification schemes.
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PMID:Cytogenetic abnormalities in pediatric myelodysplastic syndrome: a report of three cases. 907 4

Two different complex translocations from newly diagnosed cases of Philadelphia chromosome-positive chronic myelogenous leukemia (CML) were characterized by G-banding and fluorescence in situ hybridization (FISH) analysis. In one case, a unique balanced t(9;22;9;11) (q34;q11;p22;q23) was identified by G-banding, and confirmed by FISH using MBCR/ABL and painting probes. In the second case, an apparently balanced t(19;22) was identified by G-banding analysis. FISH using MBCR/ABL probe detected the fusion gene on the derivative chromosome 22, indicating the involvement of chromosome 9. Further FISH analysis with selected painting probes showed that the t(19;22) was a result of a complex translocation involving chromosomes 9, 19, 21, and 22.
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PMID:Fluorescence in situ hybridization analysis of complex translocations in two newly diagnosed Philadelphia chromosome-positive chronic myelogenous leukemia patients. 1052 39

The Bcl10 gene was identified through characterization of the t(1;14)(p22;q32) associated with mucosa-associated lymphoid tissue (MALT) lymphoma. Bcl10 is implicated in the regulation of apoptosis and has been reported to be mutated in other subtypes of non-Hodgkin's B-cell lymphoma (B-NHL) and leukaemic cell lines, raising the possibility that its deregulation could be implicated in other forms of haematological malignancy. We screened 226 cases, including 123 acute myeloid leukaemia (AML), 50 acute lymphoblastic leukaemia (ALL), 20 chronic myeloid leukaemia (CML), 10 chronic lymphocytic leukaemia-prolymphocytic leukaemia (CLL/PLL) and 23 cases with 1p abnormalities, for Bcl10 mutations by reverse transcription polymerase chain reaction-single-stranded conformation polymorphism (RT-PCR/SSCP). Three known polymorphisms and two common splice variants were identified; however, no mutations were detected. One splice variant led to a 33-bp in frame deletion, whereas the other caused a 16-bp deletion predicting C-terminal truncation of Bcl10. However, both splice variants were also detected in normal bone marrow, suggesting that they are unlikely to be of pathogenetic significance. Furthermore, Southern blot analysis revealed no rearrangements of Bcl10 among 16 ALL and 11 cases of haematological malignancy with 1p abnormalities. Our results suggest that mutation of the Bcl10 gene as a mechanism of tumorigenesis is not associated with leukaemia.
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PMID:Screening for mutations of Bcl10 in leukaemia. 1088 11


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