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子宫内膜间质肉瘤中的等位基因不平衡:非肿瘤性正常表现的子宫内膜和子宫肌层组织中常见的基因突变

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世界核心医学期刊文摘（妇产科学分册） 2005年第5期1卷 37-38页

作者： moinfar f Kremser M.-L 侯巍

Endometrial stromal sarcoma (ESS) is among the rarest primary malignant tumors of the uterus. The aim of this study was to examine the possibility of loss of heterozygosity (LOH) and microsatellite instability (MIS) in different tissue co mponents of ESS. Using PCR, we examined DNA extracts from microdissected tissues of 27 uterus samples containing malignant stromal cells of ESS (20 low grade an d 3 high grade sarcomas)-, benign tumor cells of endometrial stromal nodules (E SN, 4 cases) as well as tumor-free myometrial and endometrial tissues close to and distant from the tumors. Normal cervical tissues (epithelial cells, stroma c ells) were also microdissected and analyzed. fifteen polymorphic DNA markers (ch romosomes 2p, 3p, 5q, 10q, 11q, 13q, and 17p) were tested to identify possible g enetic alterations. Samples from 10 women with prolapsed uteri without any histo pathologic abnormalities were also selected as controls. While no genetic altera tions could be identified in 12 (44.5%) ESS cases, 15 (55.5%) revealed LOH wit h at least one polymorphic DNA marker. LOH were found in 3 (100%) high-grade s arcomas, 10 (50%) low-grade ESS, and 2 (50%) benignESN. Although LOH was foun d more often in the neoplastic stromal cells, several cases showed concurrent an d independent LOH in the tumor-free myometrial or endometrial tissues either cl ose to or distant from the tumors. The most common genetic abnormality (LOH) was observed at PTEN, a tumor suppressor gene located on chromosome 10q. No tumor w as associated with microsatellite instability (MSI). The control group without a ny histologic abnormalities did not show LOH or MSI. The frequent occurrence of LOH and the lack of MSI suggest that loss of function(s) of tumor suppressor gen es and not mismatch repair deficiency plays a key role in the pathogenesis of en dometrial stromal neoplasms. The concurrent and independent occurrence of LOH in the stromal tumor cells and the tumor-free and normal-appearing myometrial

关键词：子宫肌层子宫内膜基因突变非肿瘤性子宫平滑肌瘤微卫星不稳定性恶性度基因异常不平衡遗传学改变

早期宫颈癌经腹根治性宫颈切除术后残留宫颈发现单个复发灶1例报道

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世界核心医学期刊文摘（妇产科学分册） 2006年第4期2卷 49-50页

作者： Bader A.A. Tamussino K.f. moinfar f. 丁福 Department of Obstetrics and Gynecology Medical University of Graz Auenbruggerplatz 14 A-8036 Graz Austria

Background. We report an isolated recurrence at the residual cervix shortly after abdominal radical trachelectomy for cervical cancer. Case. A 34-year-old woman underwent radical abdominal trachelectomy and pelvic lymphadenectomy for fIGO stage IB1 squamous cell cervical cancer. The tumor measured 10 mm in maximum diameter with 4 mm of invasion. Histology showed lymph vascular space involvement with no infiltration of adjacent structures and no pelvic lymph node metastases. Tumor-free resection margins exceeded 15 mm. At the 6-month follow-up examination, cervical cytology showed cells suspicious for recurrent cervical cancer. Abdominal hysterectomy was performed and histology showed an isolated 3-mm recurrence in the residual cervix. The patient is free of disease 8 months after hysterectomy. Conclusion. Recurrence at the residual cervix is a potential risk of abdominal trachelectomy for early cervical cancer. Patients should be coun seled accordingly and followed closely.

关键词：早期宫颈癌复发灶组织学检查鳞状上皮细胞癌盆腔淋巴结浸润深度淋巴血管经腹子宫切除术复发

采用比较基因组杂交检测低分级子宫内膜基质肉瘤和未分化子宫内膜肉瘤的染色体变异

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世界核心医学期刊文摘（妇产科学分册） 2005年第9期1卷 22-23页

作者： Halbwedl I. Ullmann R. Kremser M.-L. f. moinfar 侯巍 Department of Pathol ogy Medical University of Graz Auenbruggerplatz25 Graz A-8036 Austria

Objective. Endometrial stromal sarcomas (ESS) are very rare neoplasms constitu ting less than 0.5%of all malignant uterine tumors. The aim of the present stud y was to characterize the karyotypic abnormalities in these malignant mesenchyma l tumors and to find specific chromosomal aberrations with eventual correlation with histologic grades. Methods. Twelve cases of endometrial stromal sarcomas co nsisting of nine lowgrade ESS and three undifferentiated endometrial sarcomas (U ES) were investigated by comparative genomic hybridization (CGH). Results. Ten o f the twelve cases (83.3%) displayed chromosomal gains or losses. Deletions occ urred more frequently than gains (63.4%versus 36.6%). In low-grade ESS, gains on 1, 6q, 9q, 16p, 19, 20q, 22q and losses on 2, 4q, 6, 7, 11q, 13q, 15q, 16q, 20p, X were detected. CGH with UES exhibited gains on 2q, 4q, 6q, 7p, 9q, 20q an d losses on 3q, 10p, 14q. One low-grade ESS and one UES did not reveal any chro mosomal aberration. Conclusions. Chromosomal aberrations in endometrial sarcomas are heterogeneous and do not clearly correlate with the histologic grades. Ther e is no increased accumulation of aberrations from low-grade ESS to UES. Despit e the karyotypic variations, chromosomal deletion on 7p was the most common find ing (55.6%) in low-grade ESS and may play a role in tumor development and prog ression.

关键词：比较基因组杂交子宫内膜肉瘤病染色体变异子宫恶性肿瘤间叶肿瘤染色体异常核型异常膜基质中起

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伴有CD10表达的乳腺非特殊型肉瘤

临床与实验病理学杂志 2007年第1期23卷 96-96页

作者： Leibl S moinfar f 朱鸿（摘译）魏兵（摘译）步宏（审校）不详四川大学华西医院病理科成都610041