Czuchlewski David R, Andrews Jared, Madden Richard, Clericuzio Carol L, Zhang Qian-Yun
Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
J Pediatr Hematol Oncol. 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a.
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.
一名患有米勒-迪克尔综合征的15个月大女孩被诊断为前体B细胞急性淋巴细胞白血病。米勒-迪克尔综合征是一种涉及17号染色体p13.3区域的连续性基因缺失综合征，可导致无脑回畸形。细胞遗传学分析发现了先前检测到的17p13.3缺失以及其他复杂的数目和结构异常，包括9号染色体缺失、9号染色体长臂等臂染色体和20号染色体间质缺失。据我们所知，这是首例关于米勒-迪克尔综合征合并急性白血病的报告。在此，我们回顾了有关米勒-迪克尔综合征的文献，特别关注缺失区域内几个候选肿瘤抑制基因的存在情况。
