Wilms tumor accompanied by premature chromatid separation
Wilms tumor accompanied by premature chromatid separation
复制标题
肾母细胞瘤伴有染色单体过早分离
DOI：
10.1002/pbc.26255
复制
发表时间：
2017
影响因子：
3.2
通讯作者：
Ogiso Y
中科院分区：
文献类型：
--
作者：
Shimada K;Yanagisawa R;Kubota N;Hidaka E;Sakashita K;Ishii E;Matsuura S;Ogiso Y
早染色单体分离（PCS）伴马赛克杂色性非整倍体综合征（PCS [MVA]综合征）是一种罕见的常染色体隐性遗传病，其特征为体质性非整倍体，中期细胞中PCS发生率超过50%，儿童癌症的高风险。1这些患者的中枢神经系统异常包括小头畸形、以脑发育不全为特征的Dandy-Walker畸形和双侧白内障。肾母细胞瘤被认为是所有肿瘤中发展最严重的。2据报道，BUB1B上游基因间突变或BUB1B突变可导致PCS （MVA）综合征。然而，在生殖系正常核型的Wilms肿瘤中检测PCS的意义尚不清楚。一名4个月大的男婴因腹部肿胀入住我院。他的个人和家庭病史并不引人注目。超声和计算机断层扫描显示单侧右肾肿瘤，可以手术完全切除，没有其他转移。宏观上，包被良好的肿瘤大小为12.5 cm× 8 cm× 8 cm，重455.8 g（包括右侧正常肾脏）。切口后，肿瘤向囊外扩散（图1A）。切口表面柔软、易碎、发白、粗糙、不规则（图1a和1b）。镜下，肿瘤呈绒毛状或乳头状结构，伴纤维间质。实质部分被一层柱状上皮细胞覆盖，包含肾小球样结构、导管结构和胚母细胞浸润。未见出血或坏死（图1c）。
Cancer-prone syndrome of premature chromatid separation (PCS) with mosaic variegated aneuploidy syndrome (PCS [MVA] syndrome) is a rare autosomal recessive disorder characterized by constitutional aneuploidy with PCS in more than 50% metaphase cells and a high risk of pediatric cancers. 1 Central nervous system anomalies found in these patients include microcephaly, Dandy–Walker malformation characterized by brain hypoplasia, and bilateral cataracts. 1 Wilms tumor is thought to be the most developed of all neoplasms. 2 Intergenic mutation upstream of BUB1B or mutation of BUB1B has been reported to cause the PCS (MVA) syndrome. 1, 3 However, the significance of detecting a PCS in Wilms tumor accompanied with normal karyotype in the germline is unknown.A 4-month-old male was admitted to our hospital due to abdominal swelling. His individual and family histories were unremarkable. Ultrasonography and computed tomography revealed a unilateral right renal neoplasm that could be removed completely with surgery, and there was no other metastasis. Macroscopically, the well-encapsulated tumor was 12.5 cm× 8 cm× 8 cm in size and weighed 455.8 g (including the right normal kidney). Upon incision, the tumor spread out of the capsule (Fig. 1A). The cut surface was soft, fragile, whitish, rough, and irregular (Figs. 1 A and 1 B). Microscopically, the tumor exhibited villous or papillary structures with fibrous stroma. Parenchymal parts were covered by a layer of columnar epithelial cells and contained glomerulus-like structures, ductal structures, and an infiltration of the blastema cells. No hemorrhage or necrosis was noted (Fig. 1 C).
影响因子：
6.2
作者：
G. D'angio;A. Evans;N. Breslow;B. Beckwith;H. Bishop;P. Feigl;W. Goodwin;L. Leape;L. Sinks;W. Sutow;M. Tefft;J. Wolff
通讯作者：
J. Wolff
肾母细胞瘤病——病理和影像学特征。
DOI：
--
发表时间：
1995
期刊：
影响因子：
--
作者：
Merchant Sa;Badhe Pb
通讯作者：
Badhe Pb
两名具有纯合早熟染色单体分离特征的婴儿。
DOI：
--
发表时间：
2006
期刊：
American Journal of Human Genetics 77
影响因子：
--
作者：
Numabe;H.;Ikeuchi;T.;Kajii;T.,;Kusakawa;L;Kato;I.;Kosugi;S.:
通讯作者：
S.: