De Novo Philadelphia Chromosome (BCR/ABL1) Positive Myelodysplastic Syndrome: Is it a Distinct Molecular and Clinical Entity?

  • Darko Katalinic

To the Editor,

Myelodysplastic syndromes (MDS) are a heterogenous group of clonal steam cell disorders characterized by dysplastic changes of bone marrow and blood cells, peripheral blood cytopenias, and increased risk for transformation to secondary leukemia. A numerous acquired somatic mutations involved in epigenetic regulation, RNA splicing, DNA damage response, transcriptional regulation and signal transduction such as SF3B1, TET2, RUNX1, ASXL1, SRSF2, TP53, U2AF1, NRAS/KRAS, DNMT3A, ZRSR2 and EZH2, ZNF554, ZNF557 GLTSCR1, GLTCCR2 etc. have been already detected in the patients with MDS [1, 2, 3]. Copy number alterations (mostly of them amplifications and deletions) of all parts of chromosome 5, 7, 8 and 2, Trisomy 8, Monosomies 5, 7 and 20 as well as the loss of the Y chromosome contribute to MDS pathophysiology and are among the most common cytogenetic abnormalities observed in MDS [1]. However, MDS with Philadelphia chromosome (Ph) positivity is reported to be extremely rare...


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Conflict of interest

The author declares that there is no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Consent for the publication of this case report and any additional related information was taken from the next of kin of the patient involved in the study.


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Copyright information

© Indian Society of Haematology & Transfusion Medicine 2017

Authors and Affiliations

  1. 1.Department of Internal Medicine, Faculty of MedicineJ. J. Strossmayer University of OsijekOsijekCroatia

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