IMR Press / EJGO / Volume 26 / Issue 3 / pii/2005165

European Journal of Gynaecological Oncology (EJGO) is published by IMR Press from Volume 40 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Original Research

Endometrial stromal sarcoma - Observational evidence of a genetic background?

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1 Departments of Obstetrics and Gynecology and Pathology, Medical University of Graz, Austria
2 Departments of Pathology, Medical University of Graz, Austria
Eur. J. Gynaecol. Oncol. 2005, 26(3), 288–290;
Published: 10 June 2005
Abstract

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 aggregiltions 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 oncogene心is 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.

Keywords
Familial cancer
Hormone sensitive tumors
Genetic predisposition
Genetic polymorphism
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