None of the nine amplifiable cases of aCML and none of the normal BM controls showed a JAK2V617F mutation, in contrast to 45/59 (76%) of the Ph chromosome negative CMPN cases.
To help identify novel mutations in myeloproliferative neoplasms (MPNs), we performed a genome-wide single nucleotide polymorphism (SNP) screen to identify aUPD in 58 patients with atypical chronic myeloid leukemia (aCML; n = 30), JAK2 mutation-negative myelofibrosis (MF; n = 18), or JAK2 mutation-negative polycythemia vera (PV; n = 10).
Two cases of atypical chronic myeloid leukaemia (CML) carrying the t(4;22)(q12;q11) translocation involving the breakpoint cluster region (BCR) and platelet-derived growth factor alpha receptor (PDGFRA) genes have been recently characterized.
Molecular and cytogenetic characterization of a novel translocation t(4;22) involving the breakpoint cluster region and platelet-derived growth factor receptor-alpha genes in a patient with atypical chronic myeloid leukemia.
H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22).
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia.
No abnormalities involving tyrosine kinases were detected; however, nine cytogenetically cryptic copy number imbalances were detected in seven patients, including hemizygous deletions of RUNX1 or CEBPA in two cases with atypical chronic myeloid leukemia.
The subhaplotype 5' to the delta-globin gene in 5 ACML patients was [+----], and the other 4 were suspected to be heterozygotes for [+----] and [-++-+].
H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22).
A 58-year-old man with a 4-month history of atypical chronic myeloid leukemia (aCML), treated with INF-alpha and hydroxyurea, presented with severe localized bone pain with involvement of upper limbs on July 17, 2000.
These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases.
No abnormalities involving tyrosine kinases were detected; however, nine cytogenetically cryptic copy number imbalances were detected in seven patients, including hemizygous deletions of RUNX1 or CEBPA in two cases with atypical chronic myeloid leukemia.
Fetal haemoglobin (Hb F) and its G gamma-globin chain contents were examined in 2 juvenile (JCML) and 9 adult chronic myelogenous leukaemia (ACML) patients.
A small number of chronic myeloproliferative disorders with hematologic features of chronic myelomonocytic leukemia (CMML) or atypical chronic myeloid leukemia and Ph1 chromosome with m-BCR rearrangement have been reported (p190 CMPD).
The subhaplotype 5' to the delta-globin gene in 5 ACML patients was [+----], and the other 4 were suspected to be heterozygotes for [+----] and [-++-+].
The subhaplotype 5' to the delta-globin gene in 5 ACML patients was [+----], and the other 4 were suspected to be heterozygotes for [+----] and [-++-+].
In a series of 11 patients with a diagnosis of aCML according to the FAB proposals we have analyzed the most relevant clinical, hematological and cytogenetic characteristics.