OA: Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing – a case report

BMC Cancer 

 The simultaneous occurrence of an endometrial and ovarian carcinoma in women below 50 years of age is a common combination [3], however, the pattern of pulmonary metastasis in this low grade and low stage cancer disease is unusual.

 The early onset of the malignant disease in this young woman at age 33 suggests possible germline mutations that accelerated the accumulation of genetic aberrations promoting cancer development. A common genetic defect that leads to the development of endometrial cancer in the context of Lynch syndrome is aberrations in the mismatch repair (MMR) proteins. Interestingly, neither mutations in the MMR genes nor increased double strand breaks could be detected.

Abstract

Background

Endometrioid adenocarcinoma of the uterus and ovarian endometrioid carcinoma share many morphological and molecular features. Differentiation between simultaneous primary carcinomas and ovarian metastases of an endometrial cancer may be very challenging but is essential for prognostic and therapeutic considerations.

Case Presentation

In the present case study of a 33 year-old patient we used targeted amplicon next-generation re-sequencing for clarifying the origin of synchronous endometrioid cancer of the corpus uteri and the left ovary. The patient developed a metachronous lung metastasis of an endometrioid adenocarcinoma four years after hyster- and adnexectomy, vaginal brachytherapy and treatment with the synthetic steroid tibolone. Removal of the metastasis and megestrol treatment for seven years led to a complete remission......