Evaluation of X-Chromosome Inactivation Patterns in Patients with Acute Myeloid Leukemia during Remission

Abstract EN

The aim of this study was to evaluate the patterns of X-chromosome inactivation during the remission in acute myeloid leukemia (AML) at the RNA level.

Two hundred normal females and 45 female patients with AML entered the study.

The frequency of heterozygosity was 48.5% (119/245) for P55, 40% (93/245) for IDS, and only 28.9% (71/245) for G6PD.

Some individuals were heterozygous for more than one gene polymorphism.

Overall, one hundred normal individuals proved showed to be heterozygous for at least one of the above polymorphisms.

92/100 (92%) normal females showed a polyclonal pattern.

Clonal patterns were observed in 44/45 (98%) AML patients at presentation.

Of 27 patients who were followed after remission, 23 (85.2%) patients showed a clonal pattern.

Ten patients were available for a longer followup (up to 12 months) and the clonal pattern was observed in seven patients.

It can be concluded that clonality at remission is a frequent event in AML and does not necessarily mean relapse of the disease.

There is also a possibility of conversion of clonality to polyclonality over time.