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首页> 外文期刊>European journal of gynaecological oncology >Endometrial stromal sarcoma--observational evidence of a genetic background?
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Endometrial stromal sarcoma--observational evidence of a genetic background?

机译：子宫内膜间质肉瘤-遗传背景的观察证据吗？

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BACKGROUND: Endometrial stromal sarcomas (ESS) constitute only 0.2% of all gynecological malignancies, and risk factors or genetic associations are largely unknown. We are in contact with more than 100 patients with ESS via an internet support group, and our aim was to analyze the personal and familial medical histories of this large patient group for possible familial cancers aggregations in ESS patients. METHODS: A questionnaire regarding the personal and familial medical history was circulated among the members of the internet group, which was returned by 64 patients. RESULTS: At diagnosis of ESS the average age was 42 years. Fifty percent had a history of long-term hormonal treatment. One patient each had a previous history of breast carcinoma, thyroid cancer and cutaneous malignant melanoma. One familial case of ESS was observed. At least one malignancy in the family was reported by 47% of patients, and the mother or father were affected in 26%. Multiple familial cancers were observed in 25% of ESS patients. The most frequent familial cancer was breast cancer (25%) followed by endometrial (8%), lung (7%) and prostate carcinoma (5%). CONCLUSIONS: Patients are young, report hormonal treatments and have a familial history of hormone-dependent carcinomas. This suggests a strong genetic predisposition in the oncogenesis of ESS. Patients with ESS may suffer from an inherited genetic predisposition similar to familial breast and prostate carcinoma which may render them susceptible to hormone-dependent growth promotion and/or to cellular damage from particular estrogen metabolites of endometrial cells resulting in a ESS.
机译：背景：子宫内膜间质肉瘤（ESS）仅占所有妇科恶性肿瘤的0.2％，而危险因素或遗传关联很大程度上未知。我们通过一个互联网支持小组与100多名ESS患者进行了接触，我们的目的是分析这一庞大患者群体的个人和家族病史，以了解ESS患者中可能的家族性癌症聚集。方法：在网上小组成员中散发了有关个人和家族病史的问卷，有64位患者返回。结果：在诊断为ESS时，平均年龄为42岁。 50％有长期激素治疗史。每位患者都有乳腺癌，甲状腺癌和皮肤恶性黑色素瘤的既往病史。观察到一例家族性ESS。 47％的患者报告了家庭中至少一种恶性肿瘤，而父亲或母亲的恶性肿瘤占26％。在25％的ESS患者中发现了多种家族性癌症。最常见的家族性癌症是乳腺癌（25％），其次是子宫内膜癌（8％），肺癌（7％）和前列腺癌（5％）。结论：患者较年轻，报告激素治疗，并有家族性激素依赖性癌病史。这表明在ESS的致癌中有很强的遗传倾向。患有ESS的患者可能患有与家族性乳腺癌和前列腺癌相似的遗传遗传倾向，这可能使他们易受激素依赖性生长促进和/或子宫内膜细胞特定雌激素代谢产物导致ESS的细胞损伤。

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