http://www.myeloid.dk/filearchive/bffa9d00f2083b9fd0cd2a1490672a0e.pdf

Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet

https://dipbsf.uninsubria.it/monti/BFPN%202009/bloodIM.pdf

The development of imatinib as a therapeutic agent for chronic myeloid leukemia

http://hemepathreview.com/UsefulHemeRefArticles/Monitor-CML-Standards.pdf

Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results

https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(07)61165-9.pdf

Chronic myeloid leukaemia

http://www.leukemia-cell.org/cell_kniha/download/241.pdf

Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML Study IV

Imatinib improves but may not fully reverse the poor prognosis of patients with CML with derivative chromosome 9 deletions.

Deletions of the derivative 9 chromosome (der(9)) are associated with poor prognosis in chronic myeloid leukemia (CML). Several models have been proposed to account for this association. To distinguish between the various models we mapped the deletion in 69 Philadelphia-positive CML patients carrying a der(9) deletion and compared the size of the deletion with the patients' outcome. Our results demonstrate that patients with large deletions had a significantly worse survival than those with small deletions whereas the outcome for patients with small deletions was similar to that of patients lacking a deletion. These results support the tumor suppressor gene model for the pathogenesis of der(9) deletions, argue against alternative models and provide insight into candidate gene location.

Size matters: the prognostic implications of large and small deletions of the derivative 9 chromosome in chronic myeloid leukemia

The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not all patients with classical myeloproliferative disorders. We describe a cytogenetic and molecular study of a JAK2Val617Phe-negative case of essential thrombocythemia harboring the acquired translocation t(X;5)(q13;q33). We show that this involves the inactive X-chromosome and is associated with silencing of autosomal genes within the adjacent 5q minus syndrome common deleted region. This is the first documented example of autosomal gene silencing adjacent to an X-autosome breakpoint in human malignancy and such a mechanism may underlie the pathogenesis of related disorders with translocations involving Xq13.

https://espace.library.uq.edu.au/view/UQ:295713/UQ295713_OA.pdf

An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.

/pdf/chronic-myeloid-leukemia-translocation-and-provide-a-2m064j13ww.pdf

chronic myeloid leukemia translocation and provide a powerful and independent prognostic indicator in Deletions of the derivative chromosome 9 occur at the time of the Philadelphia

Unlike the Philadelphia chromosome in chronic myeloid leukemia (CML), there is no pathognomonic chromosomal abnormality associated with the cMPDs. However, a number of recurrent chromosomal abnormalities have been documented. Chromosomal abnormalities, as detected by G-banding, are seen in 30-40 % of patients with polycythemia vera (PV) and idiopathic myelofibrosis (IMF) (Table4.1) but are infrequent in patients with essential thrombocythemia (ET).

Brian J. P. Huntly

Papers

Imatinib improves but may not fully reverse the poor prognosis of patients with CML with derivative chromosome 9 deletions.

Size matters: the prognostic implications of large and small deletions of the derivative 9 chromosome in chronic myeloid leukemia

An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.

chronic myeloid leukemia translocation and provide a powerful and independent prognostic indicator in Deletions of the derivative chromosome 9 occur at the time of the Philadelphia

Cytogenetics of Myeloproliferative Disorders