Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis

Background Although, 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 presentation A 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. Conclusion 5q 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.

Automated summary

5q deletions are rare in CML, with reported cases either linked to tyrosine kinase inhibitor therapy or post allogeneic stem cell transplantation. This case represents the first reported instance of Ph positive CML accompanied by a 5q deletion.