Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants
Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants
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DOI：
10.1002/ajmg.1580
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发表时间：
2001-11-15
期刊：
影响因子：
--
通讯作者：
Asamoto, A
中科院分区：
文献类型：
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作者：
Kajii, T;Ikeuchi, T;Asamoto, A
来自四个家庭的五名婴儿（两女三男）均患有严重的产前和产后生长迟缓、严重发育迟缓、小头畸形、大脑发育不全并伴有 Dandy-Walker 复合体或其他后颅窝畸形，并出现无法控制的阵挛性癫痫发作。四名婴儿患有肾母细胞瘤，其中一名婴儿双侧肾脏出现囊性病变。所有五个婴儿在培养的淋巴细胞中均表现出杂色嵌合非整倍体。在我们制备的两名婴儿中，48.5%-83.2%的淋巴细胞表现出完全性早熟染色单体分离（PCS）。他们父母的淋巴细胞占总 PCS 的 3.5%-41.7%。其余三名婴儿及其父母的染色体是在外部实验室制备的，他们的总 PCS 频率往往较低。另外五名报告患有该疾病的婴儿与我们描述的五名婴儿一起接受了审查。总之，他们的临床和细胞遗传学表现非常相似，足以表明是一种综合征。 10 名婴儿中有 7 名患有已证实或可能的肾母细胞瘤。肿瘤诊断时的年龄比平常年轻，为 2-16 个月。 4 名婴儿的肿瘤为双侧，3 名婴儿的肿瘤为单侧，6 名婴儿出现囊性变。两名婴儿患有葡萄状横纹肌肉瘤。因此，该综合征的携带者容易发生肿瘤。有丝分裂检查点缺陷的可能作用已在两名患有该综合征的婴儿中得到证实（Matsuura 等人[2000：Am J Hum Genet 69：483-486]），并结合肿瘤的发生和进展进行了讨论。 (C) 2001 年 Wiley-Liss 公司。
Five infants (two girls and three boys) from four families all had severe pre- and postnatal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and developed uncontrollable clonic seizures. Four infants developed Wilms tumors, and one showed cystic lesions in bilateral kidneys. All five infants showed variegated mosaic aneuploidy in cultured lymphocytes. In two infants whose chromosomes were prepared by us, 48.5%-83.2% lymphocytes showed total premature chromatid separation (PCS). Their parents had 3.5%-41.7% of their lymphocytes in total PCS. The remaining three infants and their parents, whose chromosomes were prepared at outside laboratories, tended to show lower frequencies of total PCS. Another five infants reported with the disorder were reviewed together with the five infants we described. Together, their clinical and cytogenetic manifestations were similar enough to suggest a syndrome. Seven of the 10 infants developed proven or probable Wilms tumors. The age at diagnosis of the tumors was younger than usual at 2-16 months. The tumors were bilateral in four infants and unilateral in three infants, and cystic changes were present in six infants. Two infants developed botryoid rhabdomyosarcoma. The carriers of the syndrome are thus liable to tumorigenesis. The possible role of mitotic checkpoint defects, proven in two infants with the syndrome (Matsuura et al. [2000: Am J Hum Genet 69:483-486]), was discussed in connection with tumor development and progression. (C) 2001 Wiley-Liss Inc.