No abstract available.
Humans ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative

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.
Adult ; Chromosomes, Human, Pair 13 ; Female ; Humans ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; genetics ; Trisomy

We report a patient who had been initially diagnosed as a myelodysplastic syndrome in 1998 presenting purpuric patches on the left arm that started to develop about a year prior. The purpuric lesions were diagnosed as leukemia cutis by skin biopsy. Her subsequent bone marrow biopsy showed progression into an atypical chronic myeloid leukemia with increased numbers of leukocytes in the peripheral blood. Leukemia cutis typically is regarded as a sign of progression of disease or a manifestation of recurrent disease in treated patients with an established diagnosis of leukemia. We suggest that the skin lesion in this patient could have been a sign of con-version into atypical chronic myeloid leukemia.
Arm ; Biopsy ; Bone Marrow ; Diagnosis ; Humans ; Leukemia* ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative* ; Leukocytes ; Myelodysplastic Syndromes* ; Skin

Four cases of atypical chronic myeloid leukemia (aCML), which were compatible with the FAB guideline for the classification of chronic myeloid leukemia (CML), are presented. All 4 patients showed the onset in old age, leukocytosis with an increase in the number of immature granulo-cytes, monocytosis, a low basophil count, and a dysgranulopoiesis in the peripheral blood, a nega-tivity of the bcr-abl gene rearrangement, and a hypercellular marrow with marked granulocytic hyperplasia and dyshemopoietic features. Two patients died within 3 months and the other 2 are currently under observation after a partial response to hydroxyurea. aCML is known to have a poor therapeutic response and outcome without a blastic crisis. A greater deal of concern regarding aCML is required for an accurate diagnosis and classification.
Basophils ; Bone Marrow ; Classification ; Diagnosis ; Gene Rearrangement ; Humans ; Hydroxyurea ; Hyperplasia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative* ; Leukocytosis

Chromosome Aberrations ; Chromosomes, Human, Pair 8 ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; Myelodysplastic Syndromes ; Protein-Tyrosine Kinases

Objective: To compare the clinical features between the 2 cohorts developing myelodysplastic syndrome or acute myeIogenous Ieukemia in Philadelphia chromosome-negative cells (Ph(-) MDS/AML) and maintaining disease stable in the patients with Philadelphia chromosome-positive chronic myeloid Ieukemia (Ph(+) CML) who had clonal chromosomal abnormalities in Philadelphia chromosome-negative metaphases (CCA/Ph(-)) during tyrosine kinase inhibtor (TKI) - therapy. Methods: We retrospectively analyzed Ph(+) CML patients who developed CCA/Ph(-) during TKI-therapy from May 2001 to December 2017. Results: Data of CCA/Ph(-) 63 patients, including 7 progressing to Ph(-) MDS/AML and 56 remaining disease stable were collected. Compared with those with stable disease, patients with Ph(-)MDS/AML had lower hemoglobin (P=0.007) and platelet (P=0.006) counts, and higher proportion of peripheral blasts (P<0.001) when the first time CCA/Ph(-) was detected, and more mosonomy 7 abnormality (5/7, 71.4%) when MDS or AML was diagnosed; meanwhile, trisomy 8 (32/56, 57.1%) was more common in those with stable disease. Outcome of the patients with Ph(-) MDS/AML were poor. However, most of those with CCA/Ph(-) and stable disease had optimal response on TKI-therapy. Conclusions: A few patients with Ph(+) CML developed CCA/Ph(-) during TKI-therapy, most of them had stable disease, but very few patients developed Ph(-) MDS/AML with more common occurrence of monosomy 7 or unknown cytopenia. Our data suggested the significance of monitoring of peripheral blood smear, bone marrow morphology and cytogenetic analysis once monosomy 7 or unknown cytopenia occurred.
Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/physiopathology* ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/physiopathology* ; Philadelphia Chromosome ; Protein-Tyrosine Kinases/antagonists & inhibitors* ; Retrospective Studies

OBJECTIVETo investigate the value of myeloproliferative neoplasms Symptom Assessment Form total symptom score (MPN-SAF-TSS)in assessing constitutional symptoms among Ph/BCR- ABL negative myeloproliferative neoplasm (MPN)patients.

METHODSA cohort of 628 MPN patients were evaluated by MPN- SAF- TSS.

RESULTSFatigue was the most common symptom (76.0%, 76.2%vs 89.9%)and the highest average severity of all the symptoms (3.46±2.97, 3.47±2.99vs 4.74±3.04 scores)among polycythemia vera (PV), essential thrombocythemia (ET)and primary myelofibrosis (PMF)patients. Using the MPN- SAF- TSS analysis, PMF patients showed highest burden of symptoms (28.9 ± 19.1), followed by PV patients (19.2 ± 16.8), and finally ET patients (17.1 ± 15.3). Instinct differences were observed between PMF and PV patients (χ(2)=6.371,P=0.021), PMF and ET patients (χ(2)= 14.020,P<0.001). No significant difference was found between PV and ET patients (χ(2)=2.281,P=0.191).

CONCLUSIONMPN- SAF- TSS was effective in evaluating the symptomatic burden among Ph/BCRABL negative MPN patients and could be used for serial assessment in this clinical setting.

Humans ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; diagnosis ; physiopathology ; Polycythemia Vera ; complications ; Primary Myelofibrosis ; complications ; Thrombocythemia, Essential ; complications

BACKGROUND: In adults, the 2 main types of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are chronic myelomonocytic leukemia (CMML) and atypical chronic myeloid leukemia (aCML). Both are associated with a poor prognosis. Allogeneic hematopoietic cell transplantation (HCT) is the only known curative treatment modality for these diseases, but data on outcomes following such treatment are limited. We analyzed the outcomes of patients with MDS/MPN after allogeneic HCT. METHODS: This retrospective study included 10 patients with MDS/MPN who received allogeneic HCT at Asan Medical Center from 2002 to 2010. Of these 10 patients, 7 had CMML, 2 had aCML, and 1 had unclassifiable MDS/MPN. Five patients received a myeloablative conditioning (MAC) regimen (busulfan-cyclophosphamide), and 5 received reduced-intensity conditioning (RIC) regimen. RESULTS: Neutrophil engraftment was achieved in all patients. After a median follow-up of 47.5 months among surviving patients, 4 had relapsed and 5 had died. There was only 1 treatment-related death. The 5-year rates of overall, relapse-free, and event-free survival were 42.2%, 51.9%, and 46.7%, respectively. Relapse was the leading cause of treatment failure, and all relapses were observed in patients who had received RIC and who did not develop chronic graft-versus-host disease. CONCLUSION: Allogeneic HCT can induce durable remission in patients with MDS/MPN, but RIC cannot replace MAC in patients eligible for myeloablative treatments.
Adult ; Cell Transplantation ; Disease-Free Survival ; Follow-Up Studies ; Humans ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; Leukemia, Myelomonocytic, Chronic ; Neutrophils ; Prognosis ; Recurrence ; Retrospective Studies ; Transplants ; Treatment Failure

Atypical chronic myeloid leukemia (aCML) is a rare leukemic disorder that shows myelodysplastic and myeloproliferative features simultaneously. The Janus kinase 2 gene V617F mutation (JAK2V617F) in aCML has been the source of much controversy. Some JAK2V617F positive cases have been reported but others observed no JAK2V617F mutation in aCML as defined by WHO classification. Recently, we experienced a case of aCML with JAK2V617F mutation with typical myelodysplastic/myeloproliferative features in peripheral blood and bone marrow aspirates. The karyotype was normal and no BCR/ABL1, PDGFRA or PDGFRB gene rearrangement was noted with FISH analysis. JAK2V617F mutation of the case was identified with amplification refractory mutation system PCR and direct sequencing. We also studied JAK2V617F mutation status in 3 additional cases of previously diagnosed aCML in our institution, but no mutation was identified.
Bone Marrow ; Gene Rearrangement ; Janus Kinase 2 ; Karyotype ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; Myelodysplastic Syndromes ; Myeloproliferative Disorders ; Polymerase Chain Reaction ; Receptor, Platelet-Derived Growth Factor beta

The study aimed to examine a rare case of Philadelphia (Ph)-negative chronic myeloid leukemia (CML) with t(9;13). Chromosome samples were prepared after culture of bone marrow cells for 24 hours, the karyotypes were analyzed by G banding technique. Chromosome painting analysis was performed by using whole chromosome paints for chromosomes 9 and 22. Fluorescence in situ hybridization (FISH) was done with dual color dual fusion LSI bcr/abl probe. Bcr/abl transcripts were detected by real time fluorescence quantitative polymerase chain reaction (RQ-PCR). As a result, G banding analysis showed a karyotype of 45, XX, der(9)t(9;13)(q34;q10), -13[20]. FISH assay using LSI bcr/abl DNA probe showed a red abl signal inserted into der(22) and a fusion signal of bcr/abl rearrangement was discovered. RQ-PCR detected high copies of bcr/abl transcripts. In conclusion, insertion of bcr/abl rearrangement was a rare variant t(9;22) and could be well detected by molecular techniques, however, regular cytogenetic banding technique and whole chromosome paintings may probably lead a misdiagnosis to such cases.
Chromosome Painting ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; genetics ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; genetics ; Middle Aged