Abstract
BackgroundAlthough, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myeloid leukemia (CML), by quick and easy enabling identification of pathognomonic Philadelphia chromosome (Ph).Case presentationA 45 year old female presented with characteristic hematological features of CML in chronic phase; cytogenetic studies revealed the presence of the typical Ph and a deletion of almost entire long arm of a chromosome 5.Conclusion5q deletions have rarely been reported in CML. Those seen yet were either associated with tyrosine kinase inhibitor therapy or detected post allogeneic stem cell transplantation. To our knowledge, this is the first case of Ph positive CML accompanied by a 5q deletion.
Highlights
Chronic myelogenous leukemia (CML), results from a balanced translocation t(9;22)(q34;q11.2) giving rise to the Break point cluster region (BCR)-Abelson gene 1 (ABL1) chimeric gene being the oncogenic driver of CML [1]
*Correspondence: ahmedmaseh.haidary@fmic.org.af 1 Department of Pathology and Clinical Laboratory, French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan Full list of author information is available at the end of the article (Q-PCR) to detect low levels of BCR-ABL1 fusion gene presence has enabled for deeper scrutiny into the disease, allowing to identify abnormal clones as small as 1 in 10,000 cells [6, 7]
The mentioned molecular achievements in diagnosis and monitoring of CML have been essential for progress in disease management, the role of cytogenetic studies is undeniably still significant, as those allow for identification of additional chromosome abnormalities of prognostic significance [9]
Summary
Chronic myelogenous leukemia (CML), results from a balanced translocation t(9;22)(q34;q11.2) giving rise to the BCR-ABL1 chimeric gene being the oncogenic driver of CML [1]. This fusion gene is pathognomonic diagnostic marker of and therapeutic target for CML [2]. Molecular cytogenetics is an essential pillar for the diagnosis and monitoring of patients with CML [5]. We present a case with classic clinical and hematological features of CML in chronic phase where banding cytogenetics revealed presence of a Philadelphia chromosome (Ph) along with deletion del(5)(q13.3). After confirming suspicion of CML by this, TKI therapy was initiated, under which the patient does well up to now
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