Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of trisomy 13 is presented: a 73-year-old man with acute nonlymphocytic leukemia (ANLL), FAB borderline M1/M2, and peripheral leukocyte and platelet counts that were difficult to control with chemotherapy. A literature review shows that 35 cases of trisomy 13 are known at present. They are characterized by male predominance (76%), preferentially myeloid disorders (ANLL, myelodysplastic syndromes, chronic myeloid leukemia), leucocytosis, and relatively high platelet counts and hemoglobins. It is suggested that trisomy 13 is a specific nosologic entity with male predominance and characterized by interference with proliferation and differentiation in the myeloid differentiation series.
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PMID:Trisomy 13: a preferentially male chromosome aberration interfering specifically with myeloid proliferation and differentiation? Report of a case and review of the literature. 175 88

A female with chronic myelocytic leukemia (CML) in blastic phase (BP) showed a masked Ph chromosome that had originated by a translocation between chromosomes 8 and 22, with no obvious involvement of chromosome 9. A duplication of the masked Ph and trisomy 13 were present as additional anomalies. The karyotype on peripheral blood unstimulated cultures was 48,XX,t(8;22)(p12;q11),+13,+der(22) t(8;22)/47,XX,t(8;22)(p12;q11),+der(22)t(8;22). While the duplication of the Ph is a frequent finding in BP of CML, we did not find any other case in the literature with duplication of a masked Ph. In situ hybridization with c-abl and bcr probes showed that a 3' bcr sequence was translocated to the der(8) chromosome, while the c-abl oncogene was transposed to the masked Ph.
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PMID:Transposition of c-abl oncogene in a case of masked Ph chromosome duplicated in blastic phase. 316 25

No Ph chromosome was found in three clinically suspected chronic myelocytic leukemia (CML) patients, although one had metaphases with trisomy 13. An isochromosome of the long arm of chromosome 17 [i(17q)] was found in these patients when two of them were in acute blastic crisis (ABC) and the other in an early stage of transformation. Although an i(17q) is frequently seen in ABC of Ph-positive CML, it is rarely reported in Ph-negative CML. The finding of an i(17q) chromosome in Ph-negative CML appears to indicate, as in Ph-positive CML, that the disease is transforming into ABC. A series of cytogenetic studies in this group of patients may possibly aid in predicting the patients' pending ABC and may also lead to understanding the pathogenesis of ABC.
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PMID:Isochromosome 17q in Ph-negative chronic myelocytic leukemia. 385 72

Trisomy 13, as a sole karyotypic abnormality in acute leukemia, has been reported in several cases. However, in chronic myelogenous leukemia (CML), only two cases with this abnormality were reported so far. We describe herein a 68-year-old case with Philadelphia chromosome-negative CML and trisomy 13. Leukocytosis was pointed out during the treatment for other diseases. After 7 months, abrupt increase in leukocyte count (108,000/microliters) and splenomegaly developed. Decreased neutrophil alkaline phosphatase activity and morphological features fulfilled the diagnostic terms for CML. However, the karyotypic analysis revealed trisomy 13 instead of Philadelphia chromosome, and the BCR gene rearrangement was not detected. In cases with acute leukemia accompanied by trisomy 13, malignant transformation of an immature hematopoietic precursor cell has been suggested by the expression of antigens characteristic of both the myeloid and lymphoid lineage. In a few cases with myelodysplastic syndrome, a multipotent stem cell disorder, trisomy 13 has also been reported. From these standpoints, there might be a possibility that trisomy 13 as a sole abnormality in hematologic disorders would be related to tumorigenesis in the levels of multipotent stem cells.
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PMID:[Philadelphia chromosome-negative chronic myelogenous leukemia with trisomy 13]. 869 71

During the Vietnam War, southern Vietnam was exposed to a large amount of dioxin, a strong human carcinogen. Although we have observed much shorter survival in southern Vietnamese chronic myeloid leukemia (CML) patients, the cause remains to be clarified. Here, we report cytogenetic and molecular findings for 47 CML patients. Cytogenetically, the Philadelphia (Ph) chromosome was found in 44 patients (93.6%); of the remaining 3 patients with Ph-negative CML, 2 exhibited BCR/ABL transcripts but no BCR/ABL FISH fusion signals, suggesting the existence of two clones, with and without the BCR/ABL fusion gene. Surprisingly, in 17 patients (36.2%) (4 at diagnosis, 11 during chronic phase, and 2 in accelerated phase), we found several unique secondary chromosome abnormalities including trisomy 13, partial trisomy 13, and abnormalities of 1p, 3p, 6p, 7p, 10p, and 11p, which are different from the so-called additional chromosome abnormalities (extra Ph, +8, i(17q), +19, and +21) observed in blastic phase CML. FISH analysis revealed the Ph translocation with der(9) deletion in 11 patients (23.4%). Of these, 2 had two clones, with and without der(9) deletion, suggesting that der(9) deletion would occur in a subset of patients during disease progression. These observations point to preexisting genetic instability that induces various secondary chromosome abnormalities and multiple clones, resulting in shorter survival.
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PMID:Unique secondary chromosomal abnormalities are frequently found in the chronic phase of chronic myeloid leukemia in southern Vietnam. 1677 22

A typical chronic myeloid leukaemia (aCML), which shows both myeloproliferative and myelodysplastic features, is a type of myeloproliferative/myelodysplastic disease as defined by the World Health Organisation (WHO) classification of the myeloid neoplasms. Because of the presence of neutrophilic leukocytosis, aCML may resemble chronic myelogenous leukemia (CML). However, in contrast with CML, aCML does not have the Philadelphia chromosome or the bcr/abl fusion gene. With the continuous karotype analysis of aCML, several changes in the karyotype of aCML have been detected. However, few are recurring and no specific cytogenetic changes have been associated with aCML. Nonspecific cytogenetic abnormalities can be observed in 56%~82% of aCML cases. Although the most frequent abnormalities include trisomy 8 and del (20q), abnormalities involving other chromosomes such as 12, 13, 14, 17, and 19 have also been described. In this report we describe a case of aCML with trisomy 13.
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PMID:Atypical chronic myeloid leukaemia with trisomy 13: a case report. 2221 57