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伴有HMGIC重排的炎性肌成纤维细胞瘤

Inflammatory myofibroblastic tumor with HMGIC rearrangement.

作者信息

Kazmierczak B, Dal Cin P, Sciot R, Van den Berghe H, Bullerdiek J

机构信息

Center for Human Genetics and Genetic Counseling, University of Bremen, Germany.

出版信息

Cancer Genet Cytogenet. 1999 Jul 15;112(2):156-60. doi: 10.1016/s0165-4608(98)00268-4.

Abstract

Inflammatory pseudotumors or inflammatory myofibroblastic tumors (IMT) are lesions of extreme heterogeneity showing a highly variable mixture of bland-looking spindle cells, inflammatory cells, and collagen fibers. We describe our results of molecular cytogenetic and rapid amplification of cDNA ends (RACE-PCR) studies on an IMT characterized by a translocation involving 12q15. Chromosomal aberrations involving this region are very frequent among other benign tumors, such as lipomas, uterine leiomyomas, or pulmonary chondroid hamartomas. Recently, we have shown that, by these structural chromosomal aberrations, the HMGIC gene is affected. Fluorescence in situ hybridization (FISH) analysis and 3' RACE-PCR on cells of the present case of an inflammatory myofibroblastic tumor indicated an intragenic rearrangement of HMGIC, resulting in an aberrant transcript of that gene. Clonal cytogenetic aberrations have been described in very few cases of IMT. The results presented herein indicate that this case of IMT represents a true benign mesenchymal neoplasm associated with, or due to, a rearrangement of HMGIC.

摘要

炎性假瘤或炎性肌成纤维细胞瘤(IMT)是具有极端异质性的病变,表现为外观温和的梭形细胞、炎性细胞和胶原纤维的高度可变混合。我们描述了对一例以涉及12q15的易位为特征的IMT进行分子细胞遗传学和cDNA末端快速扩增(RACE-PCR)研究的结果。涉及该区域的染色体畸变在其他良性肿瘤中非常常见,如脂肪瘤、子宫平滑肌瘤或肺软骨样错构瘤。最近,我们已经表明,通过这些染色体结构畸变,HMGIC基因受到影响。对本炎性肌成纤维细胞瘤病例的细胞进行荧光原位杂交(FISH)分析和3' RACE-PCR表明HMGIC基因发生基因内重排,导致该基因产生异常转录本。在极少数IMT病例中描述了克隆性细胞遗传学畸变。本文给出的结果表明,该例IMT代表一种真正的良性间叶性肿瘤,与HMGIC重排相关或由其引起。

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