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

Chronic myelomonocytic leukemia (CMML) is a polymorphous malignant hematological stem cell disorder, characterized by abnormal hyperplasia of mature or immature cells of both monocytic and granulocytic series and with abnormal cellular morphology. It is an independent entity of chronic leukemia, as its prestage course is manifested by refractory anemia with monocytosis and the disease gradually evolves to CMML. In some cases, it finally becomes acute leukemia. In this study, the average white cell count of the patients was 29.3 x 10(9)/L.14 cases had leucocytosis, 7 leucopenia and 5 normal count. The absolute value of monocytes was 19 x 10(9)/L and the proportion of monocytes was 10-87%, with an average of 49%. In the leukopenic group with white cell count less than 4 x 10(9)/L, the absolute value of monocytes was less than 1 x 10(9)/L in 5 of the 7 cases. However, it was noticed that all the 5 cases had a proportion of monocytes greater than or equal to 10%. The authors would like to take this percentage as the diagnostic criteria for CMML, which is different from that adopted in FAB classification of 1982 as well as in the literatures. Statistics showed that P value of M/E, Mo/E, Mo/M were of apparent significance in the differentiation of CMML from normal controls and patients with other hematological diseases such as RA, RAEB, CML, CNL, M4 and M5.
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PMID:[An analysis of 26 cases of chronic myelomonocytic leukemia]. 226 33

The BCR-ABL hybrid gene, the main product of the t(9;22)(q34;q11) translocation, is found in the leukaemic clone of at least 95% of CML patients. The fusion protein encoded by BCR-ABL varies in size, depending on the breakpoint in the BCR gene. Three breakpoint cluster regions have been characterized to date: major (M-bcr), minor (m-bcr) and micro (mu-bcr). The overwhelming majority of CML patients have a p210 BCR-ABL gene (M-bcr), whose mRNA transcripts have a b3a2 and/or a b2a2 junction. There is apparently no significant difference between patients with a 5' or a 3' M-bcr breakpoint, except maybe for a slight predominance of b3a2-expressing cases among those with increased platelet counts (ET-like syndrome). The smallest of the fusion proteins, p190BCR-ABL, (m-bcr breakpoint) is principally associated with Ph-positive ALL. Rare cases of CML are due to a p190-type of BCR-ABL gene and, in these, the disease tends to have a prominent monocytic component, resembling CMML. CML resulting from a p230 BCR-ABL gene (mu-bcr breakpoint) is also rare, and has been associated with the CNL variant and/or with marked thrombocytosis. Exceptional CML cases have been described with BCR breakpoints outside the three defined cluster regions, or with unusual breakpoints in ABL resulting in BCR-ABL transcripts with b2a3 or b3a3 junctions, or with aberrant fusion transcripts containing variable lengths of intronic sequence inserts. The reciprocal ABL-BCR gene found in the derivative 9q+ chromosome of the t(9;22) is transcriptionally active in nearly two-thirds of CML patients but has not been shown so far to have a functional role in CML. 'Ph-negative CML' comprises cases of typical CML in whom the BCR-ABL gene can be detected by molecular methods and others who are genuinely BCR-ABL negative and usually have an atypical disease phenotype.
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PMID:BCR-ABL gene variants. 937 60

We experienced a 85-year-old female patient with granulocytosis, which occurred after the bacterial pneumonia. The white blood cell counts remained high between 30,000/microl and 120,000/microl for around one year. As the serum G-CSF level was within the normal range and there were no tumors on CT scan images, the existence of G-CSF-producing solid tumors was unlikely. Bone marrow examination revealed hypercellularity without excess of blasts and hiatus leukemia, accompanied by mild dysplasia in myeloid cells and megakaryocytes. No chromosomal abnormalities in bone marrow samples were seen with G-banding and multi-color FISH methods. Major/minor BCR-ABL fusion genes were negative by RT-PCR. As previously reported by several investigators, we often experience difficulties in distinguishing atypical CML from CNL and CMML. In this report, we discussed how to diagnose the cause of granulocytosis based on a literature review.
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PMID:[Persistent neutrophilia occurring after pneumonia: a differential diagnosis of neutrophilia based on the WHO classification]. 1644 Jul 48

To investigate the relationship between socs3 mRNA expression and jak2v617f point mutation in bcr-abl negative patients with myelo-proliferative disease (MPD), 62 bcr-abl negative MPD patients (26 cases of PV, 26 cases of ET, 9 cases of IMF, and one case of CNL) were arranged as experiment group, and the others (20 cases of CML, 10 cases of AL and 15 healthy volunteers) were arranged as control group. All the diagnosis had been made according to the 2001 WHO criteria. jak2v617f point mutation was detected by AS-PCR and confirmed by direct sequencing. The expression level of socs3 mRNA was measured by RT-PCR. The association jak2v617f point mutation with socs3 mRNA expression in bcr-abl negative MPD patients was observed and analyzed. The results showed that among 62 bcr-abl negative MPD patients, the somatic jak2v617f point mutation was positive in 44 patients (PV 23, ET 15, IMF 5, CNL 1) while negative in the other 18 patients and control group. The expression of socs3 mRNA could be detected in 39 patients from 44 jak2v617f mutation positive patients and in 10 patients from 18 jak2v617f mutation-negative patients. There was a statistically significant difference in socs3 mRNA expression rates between jak2v617f mutation positive and negative group (chi(2) = 8.44, p < 0.005). There was a statistically significant difference in socs3 mRNA expression levels between jak2v617f mutation positive and negative groups (p = 0.035). It is concluded that there is a statistically significant difference in the expression level of socs3 mRNA in the patients between jak2v617f mutation positive group and negative group.
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PMID:[Relationship between socs3 mRNA expression and jak2v617f point mutation in bcr-abl negative patients with myelo-proliferative disease]. 1854 12

Colony-stimulating factor 3 receptor (CSF3R) is mutated in 59% of CNL or atypical CML cases.
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PMID:CSF3R is mutated in chronic neutrophilic leukemia and atypical CML. 2384 67