A 15-month-old girl with Miller-Dieker syndrome, a contiguous gene deletion syndrome involving chromosome 17p13.3 and resulting in lissencephaly, was diagnosed with precursor B-cell acute lymphoblastic leukemia. Cytogenetic analysis identified both the previously detected 17p13.3 deletion and additional complex numerical and structural abnormalities, including loss of chromosome 9, isochromosome 9q and interstitial deletion of 20q. This is, to our knowledge, the first report of acute leukemia in the setting of Miller-Dieker syndrome. Herein we review the literature regarding Miller-Dieker syndrome, with particular attention to the presence of several candidate tumor suppressor genes within the deleted material.
Departments of *Pathology
‡Pediatrics, University of New Mexico Health Sciences Center, Albuquerque
†Presbyterian Family Healthcare, Belen, New Mexico
Reprints: David Czuchlewski, MD, Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico (e-mail: DCzuchlewski@salud.unm.edu).
Received for publication January 14, 2008; accepted July 13, 2008