Heerema N A, Maben K D, Bernstein J, Breitfeld P P, Neiman R S, Vance G H
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Cancer Genet Cytogenet. 1996 Dec;92(2):111-5. doi: 10.1016/s0165-4608(96)00172-0.
Four children with acute lymphocytic leukemia (ALL) and a dic(9;20) are described. All four patients were diagnosed with pre-B-cell All, and the three for whom information was available were CD10+. Age at diagnosis ranged from 23 months to 12 years. All patients achieved remission, with two in continuous remission for 2 years 6 months and 3 years, one patient relapsed, dying 3 years 2 months after diagnosis, and one patient was lost to follow-up. These four patients were initially diagnosed as having a deletion of 9p and loss of one chromosome 20. Re-examination of the karyotypes indicated a possible dic(9;20). The dicentric chromosome was verified using dual-color fluorescence in situ hybridization (FISH) with centromeric probes for chromosomes 9 and 20 on interphase nuclei. Three of the four patients had multiple chromosomal abnormalities in addition to the translocation; one was hypodiploid, one was pseudodiploid, and two were hyperdiploid. This dicentric chromosome was recently described in four adult and nine pediatric patients with ALL [8, 9]. All reported patients had CD10+ pre-B-cell All, and achieved remission, as was the case for our four pediatric dic(9;20) patients. Two of our three patients for whom follow-up is available are in continuous remission as were two adults and five pediatric patients in the previous reports. These studies confirm the dic(9;20) as a recurring abnormality in ALL. Due to the subtle nature of the translocation, FISH is very useful in confirming the chromosomal abnormality.
本文描述了4例患有急性淋巴细胞白血病(ALL)并伴有双着丝粒染色体dic(9;20)的儿童。所有4例患者均被诊断为前B细胞ALL,其中3例有相关信息者为CD10阳性。诊断时年龄范围为23个月至12岁。所有患者均达到缓解,其中2例持续缓解2年6个月和3年,1例复发,在诊断后3年2个月死亡,1例失访。这4例患者最初被诊断为9p缺失和1条20号染色体丢失。对核型进行重新检查显示可能存在dic(9;20)。使用针对9号和20号染色体着丝粒探针的双色荧光原位杂交(FISH)在间期核上验证了双着丝粒染色体。4例患者中有3例除易位外还存在多种染色体异常;1例为亚二倍体,1例为假二倍体,2例为超二倍体。最近在4例成年和9例儿童ALL患者中也描述了这种双着丝粒染色体[8,9]。所有报道的患者均为CD10阳性前B细胞ALL,并达到缓解,我们的4例儿童dic(9;20)患者也是如此。我们3例有随访信息的患者中有2例持续缓解,之前报道中的2例成年患者和5例儿童患者也是如此。这些研究证实了dic(9;20)是ALL中一种反复出现的异常。由于这种易位的性质较为隐匿,FISH在确认染色体异常方面非常有用。