Cytogenetic profile of patients with acute myeloid leukemia and central nervous system disease




Acute myeloid leukemia (AML) infrequently involves the central nervous system (CNS). This study was undertaken in patients with AML to determine whether cytogenetic findings predict CNS involvement.


The medical records of 1354 patients with AML who were treated at The University of Texas MD Anderson Cancer Center between January 2000 and December 2008 were reviewed. Forty patients (3%) had CNS involvement at time of presentation or disease recurrence, of whom 37 had conventional cytogenetics performed on bone marrow aspirate material. Demographics, treatment, and status at last follow-up were collected.


Eleven patients (30%) had a diploid karyotype, and 14 patients (38%) had complex cytogenetics. Only 5 of the 40 patients had CNS disease at diagnosis, and the remaining patients had CNS disease at relapse. Patients who developed CNS disease were younger (P = .019), had a higher white blood cell (WBC) count at diagnosis (P = .001), had higher lactate dehydrogenase level (LDH) levels (P < .0001), and had higher percentages peripheral blast cells (P = .024) at diagnosis compared with the rest of the population. In addition, patients with CNS disease had higher rates of chromosome 16 inversion (P < .001), chromosome 11 abnormality (P = .005), and trisomy 8 (P = .02) and had a tendency toward complex cytogenetics (P = .2) compared with the control group (patients who had AML with no CNS involvement).


Patients with AML and CNS disease often had higher LDH levels and WBC counts at diagnosis, and they often presented with chromosome 16 inversion and chromosome 11 abnormalities. The current study indicated that the overall survival of patients with AML who had CNS involvement is poor. Cancer 2012;. © 2011 American Cancer Society.