Multi Cytogenetic Changes in a Patient as Co-Existing MDS and CLL Progresses

Chronic lymphocytic leukemia (CLL) and myelodysplastic syndrome (MDS) existing simultaneously in untreated patients is extremely rare. There have only been nine cases of untreated CLL concurrent with or followed by the development of MDS. Of all nine cases, four patients exhibited results of cytogenetic phonotypes all showing more than one abnormal chromosome karyotype. It is unknown whether or not these abnormal chromosome karyotypes change during the development of the disease. Meanwhile, the optimal treatment for the concurrence of CLL with MDS has yet to be identified.

A 69-year-old Chinese man diagnosed with co-existing CLL with MDS was observed from diagnosis, treatment, relapse to death during an admission period of a total of 158 days. Since being diagnosed with CLL and MDS, he was treated by decitabine and his condition went into remission for three months. Four laboratory tests showed an abnormal chromosome cytogenetic karyotype successively changed during the progression of the disease.

It is the first time the abnormal chromosome karyotype variation significantly associated with the change of the illness was discovered. In the relapse and deterioration stages of the disease, there was t(9;22)(q24; q11.2); add(11)(p15) and other chromosome translocation. Repeated occurrence of TET2 mutation is special at this stage of the disease. Furthermore, decitabine could be beneficial for the treatment of the disease.