Humans ; Philadelphia Chromosome ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; therapy

OBJECTIVE: To investigate the overview of thrombosis in myeloproliferative neoplasms(MPN) patients, and to explore the risk factors of thrombosis at diagnosis and during follow-up. METHODS: The clinical data of 388 MPN patients treated in our hospital were collected. The patients were followed up by outpatient and phone. The risk factors of thrombosis were analyzed by statistical methods. RESULTS: Among 388 MPN patients, 161 patients (41.49%) showed thromboses at diagnosis or during follow-up. Among them, 92.55% were arterial thromboses, 146 cases (96.27%) were complicated with thromboses at diagnosis, and 36 cases (11.46%) showed newly thromboses or progression of previous thromboses among the 314 received full follow-up patients. Age (P＜0.001, HR:1.033, 95%CI:1.016-1.051), JAK2V617F mutation (P=0.037, HR:1.72, 95%CI: 1.033-2.862), hypertension (P＜0.001, HR:2.639, 95%CI:1.659-4.197) and hyperlipidemia (P＜0.001, HR:2.659, 95%CI:1.626-4.347) were the independent risk factors affecting thrombosis at diagnosis of the patients. During the follow-up, age (P=0.016, HR:1.032, 95%CI: 1.006-1.059) and previous thrombosis history (P=0.019, HR:2.194, 95%CI: 1.135-4.242) were the independent risk factors affecting the progression of thrombosis at different sites or on the basis of the previous thrombosis in the patients. CONCLUSION Patients with advanced age, JAK2V617F mutation or complicated with hypertension and hyperlipidemia shows a higher risk of thrombosis at diagnosis, while the patients with advanced age or previous thrombosis history shows a higher risk of progression of thrombosis during the follow-up.
Humans ; Myeloproliferative Disorders/genetics* ; Neoplasms ; Philadelphia Chromosome ; Risk Factors ; Thrombosis

Humans ; Philadelphia Chromosome ; Neoplasms ; Myelodysplastic Syndromes/genetics* ; Disease Progression

OBJECTIVETo summarize the clinical characteristics as well as diagnosis and treatment in 1 case of acute myeloid leukemia(AML) with coexpression of Ph and inv(16).

METHODSA series of clinical tests, the cellular morphological, immunological, cytogenetic and molecular biological examinations of leukemia cells were performed.

RESULTSThe clinical characteristics of this patient were very common. The cellular morphology is similar to the AML with inv(16). The leukemia cells were stained positively for CD13, CD33, CD34, CD117 and HLA-DR. Karyotypic analysis showed a complex chromosome abnormality including inv(16) and Ph, and the FISH analysis showed that the percentage of rearrangement of CBFβ allele was over that of the BCR-ABL fusion signals. The obvious adverse events did not occur in this patient within 3 years.

CONCLUSIONPh as secondary aberration of inv(16) rarely occures in primary AML cases, and so far there have not been the clear criteria of diagnosis and treatment. The cytogenetic and molecular biology could provide the basis for diagnosis. Moreover, autologous hematopoietic stem cell transplantation combined with imatinib probably is one of the effective treatment methods.

The ider(22)(q10)t(9;22)(q34;q11.2) is a rare secondary karyotypic aberration of Philadelphia chromosome positive chronic myelogenous leukemia (Ph+ CML) and was associated with disease progression and poor clinical outcomes in most of the previously reported cases. We experienced a case of Ph+ CML with the occurrence of ider(22)(q10)t(9;22)(q34;q11.2) as clonal evolution preceding an hematologic feature of accelerated phase for 3 years. So this chromosomal abnormality was not always correlated with poor prognosis. Relevant literature was reviewed.
Chromosome Aberrations ; Clonal Evolution* ; Disease Progression ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Philadelphia Chromosome ; Prognosis

BACKGROUND: Bcr/abl translocation is a recurring chromosome aberration in acute leukemia (AL). About half of the translocation in AL occur at minor bcr region (m-bcr) and remaining half at major bcr region (M-bcr). PCR method has been the practical tool for this discrimination. Recently, modified probe of FISH (fluorescence in situ hybridization) for bcr/abl was designed. In this study, we investigated whether FISH analysis with this new probe can discriminate between m-bcr and M-bcr. METHODS: Fourteen cases harboring m-bcr confirmed by qualitative PCR method were enrolled for this study. Except for two cases, all were diagnosed as AL. Cytogenetic results showed Philadelphia chromosome (Ph) in 10 cases all of which the diagnosis was AL. FISH analysis was performed on the archival samples for cytogenetic study in all cases. RESULTS: Eleven out of 14 cases showed bcr/abl translocation signals by FISH. It was of note that all of these translocation signals were different from those seen in M-bcr with thesame probe. The point of breakage onto the hybridized probe for bcr region made the difference. The resultant number of fusion signal is two in m-BCR and one in M-bcr. All Ph- positive cases showed m-bcr FISH signals. One case of Ph-negative AL in remission was m-bcr-positive by FISH. Remaining three cases of Ph-negative were bcr/abl-negative by FISH. CONCLUSION: With recently designed bcr/abl FISH probe, m-bcr was clearly discriminated from M-bcr. In addition, one case of AL in morphological and cytogenetic remission and positive for m-bcr by PCR was revealed to have significant amount of residual leukemic cells by FISH. These results demonstrate that FISH can be a powerful tool for the detection and quantitative analysis of m-bcr both at initial diagnosis and follow-up thereafter.
Chromosome Aberrations ; Cytogenetics ; Diagnosis ; Discrimination (Psychology) ; In Situ Hybridization, Fluorescence ; Leukemia* ; Philadelphia Chromosome ; Polymerase Chain Reaction

Philadelphia chromosome-positive acute myeloid leukemia (Ph+AML) is a rare disease characterized by a poor prognosis with resistance to standard chemotherapy. We report a patient with Ph+AML with a minor BCR-ABL-positive mRNA transcript who achieved a hematologic, cytogenetic, and major molecular complete response after cytarabine-based chemotherapy followed by imatinib. After more than 6 months of continuous imatinib therapy, the patient is in continuous complete remission. Our results show that imatinib mesylate is effective in treating Ph+AML.
Benzamides ; Cytogenetics ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Mesylates ; Philadelphia ; Philadelphia Chromosome ; Piperazines ; Prognosis ; Pyrimidines ; Rare Diseases ; RNA, Messenger ; Imatinib Mesylate

A 14 years old female patient with chronic myelocytic leukemia was presented. Characteristic blood features of peripheral blood smear and bone marrow findings, clinical symptoms and signs, Philadelphia chromosome are confirmative for the diagnosis of the disease. Pertinent literatures and references were also reviewed briefly.
Adolescent ; Bone Marrow ; Diagnosis ; Female ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid* ; Philadelphia Chromosome*

From Nov.2001 to July 2003, the analysis of chromosomes of 92 patients with CML evealed the metaphase figure of chromosomes of bone marrow cell which will be obtained easier than blood, but the blood is better Philadelphia chromosome found in 91,25% of cases of success.There is no significant difference between male and female subjects as between various age groups
Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Philadelphia Chromosome ; Bone Marrow Cells

OBJECTIVETo study the clinical characteristics and prognosis of patients with variant Ph chromosome-positive leukemia.

METHODSThe defection of morphology, cytogenetics, immunology and molecular biology was performed in 4 cares of variant Ph chromosome-positive leukemia, and the therepeuitics outcome of 4 patients was evaluated.

RESULTSAmong 4 cases of variant Ph+ leukemia, 3 cases were patients with CML, including 1 case in chronic phase and 2 cases in accelerated phase; and 1 cases was patient with adult B acute lymphoblasric leukemia(B-ALL).The defecfion of cytogenetics in 4 cases showed that 2 cases of CML displayed t(9; 22; 14) abnormality, 1 case of CML displayed t(5; 9; 22) abnormality, moreover, the BCR/ABL fution gane in 3 cases of CML all was e14a2 type, 1 cases of adult B-ALL disylayed t(9; 22; 17) abnormatlity, BCR/ABL fution gene of this case was e13a3 type, 4 patients all received treatment wire chemotherapeptic regimen contaiming methanesulfanate imatinib. As a result, 1 cases of adult B-ALL with e13a3 type BCR/ABL fusion gene positive relapsed after molecular biology remission for 4 months and died in the 10th month; and yet 3 cases of CML are still in molecular biology remission, the disease-free survival time of these 3 cases was 10, 19 and 27 months respectively.

CONCLUSIONThe patients with variant Ph chromosome-positive leukemia will response to the first generation tyrosine kinase inhibitors, but the prognosis of patients with e13a3 type of BCR/ABL fusion gene remains to be further explored.