ABSTRACT
Atypical chronic myeloid leukemia (aCML) is a rare hematologic malignancy with both bcr-abl-negative and the absence of the Philadelphia chromosome, which is completely different from chronic myeloid leukemia (CML). According to the clinical characteristics and the main hematological characteristics, it is classified as myelodysplastic/myeloproliferative neoplasms. Due to the low incidence and limited understanding of aCML, it can result in the clinical missed diagnosis or misdiagnosis, and the short survival time of patients. In order to further improve the diagnostic rate and survival time, this paper reviews the current diagnostic criteria, differential diagnosis, related gene mutations, prognosis evaluation and clinical treatments of aCML.
ABSTRACT
We report the case of a father and son diagnosed with atypical chronic myeloid leukemia (aCML). Both patients harbored SETBP1 mutations, which are present in 24.3% of aCML patients. Moreover, both shared the variant encoding p.Pro737His, but the aCML severity was greater in the son because of the presence of two other missense mutations causing p.Asp868Asn and p.Ser885Arg alterations. SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis.
Subject(s)
Animals , Female , Male , Mice , Pregnancy , Chromosome Aberrations/statistics & numerical data , Embryo Culture Techniques , Genomic Imprinting , Placenta Diseases/genetics , Placenta/metabolism , Reproductive Techniques, Assisted/adverse effects , Blastocyst/cytology , Chromosome Aberrations/embryology , Embryo, Mammalian , Epigenesis, Genetic , Embryo Culture Techniques/statistics & numerical data , Incidence , Placenta Diseases/pathology , Placenta/pathology , Reproductive Techniques, Assisted/statistics & numerical data , Stochastic ProcessesABSTRACT
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.
Subject(s)
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 betaABSTRACT
Pleural effusion in chronic myeloid leukemia (CML) is poorly understood and rarely reported in the literature. When the pleural effusion is caused by leukemic pleural infiltration, the differential white blood cell count of the effusion is identical to that of the peripheral blood, and the fluid cytology reveals leukemic blasts. We report here a case of bilateral pleural involvement of atypical CML in an 83-yr old male diagnosed with pancreatic cancer with abdominal wall metastasis and incidental peripheral leukocytosis. Based on bone marrow examination, chromosome analysis and polymerase chain reaction he was diagnosed with Philadelphia chromosome negative, BCR/ABL gene rearrangement negative CML. Following 3 months of treatment with gemcitabine for pancreatic cancer, he developed bilateral pleural effusions. All stages of granulocytes and a few blasts were present in both the pleural fluid and a peripheral blood smear. After treatment with hydroxyurea and pleurodesis, the pleural effusion resolved.
Subject(s)
Male , Humans , Aged, 80 and over , Aged , Pleural Effusion/etiology , Leukemic Infiltration/pathology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complicationsABSTRACT
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.
Subject(s)
Humans , Arm , Biopsy , Bone Marrow , Diagnosis , Leukemia , Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative , Leukocytes , Myelodysplastic Syndromes , SkinABSTRACT
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.