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静脉内平滑肌瘤病:一例的分子和细胞遗传学分析

Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case.

作者信息

Quade Bradley J, Dal Cin P, Neskey D M, Weremowicz S, Morton C C

机构信息

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Mod Pathol. 2002 Mar;15(3):351-6. doi: 10.1038/modpathol.3880529.

DOI:10.1038/modpathol.3880529
PMID:11904348
Abstract

Apart from its hormone responsiveness, little about the pathobiology of intravenous leiomyomatosis (IVL), a rare smooth muscle proliferation, is known. We investigated the cytogenetics and molecular biology of IVL in a 40-year-old female who presented with an abrupt onset of dyspnea. In addition to the intracaval tumor mass composed of histologically benign smooth muscle, four distinct retroperitoneal "fibroids" were cytogenetically investigated. An identical abnormal karyotype, 45,XX,der(14)t(12; 14)(q15;q24),-22, was observed in all five specimens. Fluorescence in situ hybridization revealed three copies of HMGIC (alias HMGA2), two on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5' (centromeric) to HMGIC (HMGA2), as has been frequently observed in uterine leiomyoma. Such similarity in chromosomal rearrangements suggests that there may be a pathogenetic relationship between IVL and uterine leiomyomata with t(12;14). Skewed X inactivation was observed in each tumor sample, but not in the myometrium. In each tumor, the lower molecular weight allele of HUMARA was nonrandomly inactivated. This pattern of X inactivation is most consistent with origin from a single transformation event, and in this regard, IVL more closely resembles disseminated peritoneal leiomyomatosis than typical uterine leiomyomata.

摘要

除了其激素反应性外,关于静脉内平滑肌瘤病(IVL,一种罕见的平滑肌增殖疾病)的病理生物学知之甚少。我们对一名40岁突发呼吸困难的女性的IVL进行了细胞遗传学和分子生物学研究。除了组织学上良性的平滑肌组成的腔静脉内肿瘤块外,还对四个不同的腹膜后“纤维瘤”进行了细胞遗传学研究。在所有五个标本中均观察到相同的异常核型,即45,XX,der(14)t(12;14)(q15;q24),-22。荧光原位杂交显示有三个HMGIC(别名HMGA2)拷贝,两个位于正常的12号染色体12q15处,另一个位于断点区域的der(14)上,这表明12q断点发生在HMGIC(HMGA2)的5'(着丝粒)端,这在子宫平滑肌瘤中经常观察到。染色体重排的这种相似性表明IVL与伴有t(12;14)的子宫平滑肌瘤之间可能存在致病关系。在每个肿瘤样本中均观察到X染色体失活偏态,但子宫肌层中未观察到。在每个肿瘤中,HUMARA的低分子量等位基因均被非随机失活。这种X染色体失活模式最符合单一转化事件的起源,在这方面,IVL比典型的子宫平滑肌瘤更类似于播散性腹膜平滑肌瘤病。

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Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case.静脉内平滑肌瘤病:一例的分子和细胞遗传学分析
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