Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli–Leydig cell tumours represent independent primary neoplasms
Corresponding Author
W Glenn McCluggage
Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK
Address for correspondence: Professor W G McCluggage, Department of Pathology, Belfast Health and Social Care Trust, Grosvenor Road, Belfast, BT12 6BA, UK. e-mail: [email protected]
Search for more papers by this authorAnne-Laure Chong
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada
Search for more papers by this authorLeanne de Kock
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, University of Western Australia, Perth, Western Australia, Australia
Search for more papers by this authorWilliam D Foulkes
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada
Search for more papers by this authorCorresponding Author
W Glenn McCluggage
Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK
Address for correspondence: Professor W G McCluggage, Department of Pathology, Belfast Health and Social Care Trust, Grosvenor Road, Belfast, BT12 6BA, UK. e-mail: [email protected]
Search for more papers by this authorAnne-Laure Chong
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada
Search for more papers by this authorLeanne de Kock
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, University of Western Australia, Perth, Western Australia, Australia
Search for more papers by this authorWilliam D Foulkes
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, Quebec, Canada
Cancer Research Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada
Search for more papers by this authorAbstract
Aims
Sertoli–Leydig cell tumours (SLCTs) are rare ovarian neoplasms that are commonly associated with somatic or germline DICER1 mutations, especially when of the moderately or poorly differentiated type. A large majority are unilateral, but bilateral neoplasms have been reported, sometimes in the context of germline DICER1 mutations (DICER1 syndrome). It is currently unknown whether these represent independent neoplasms or metastasis from one ovary to the other and we aimed to elucidate this.
Methods and results
We report three cases of bilateral ovarian SLCT (all in patients with DICER1 syndrome) and review all reported cases of bilateral neoplasms. In the three cases (all moderately or poorly differentiated neoplasms), the time interval between the discovery of the tumours in each ovary ranged from 2.7 years to 6 years. In all cases, different DICER1 somatic hotspot mutations within the two tumours provided definitive proof that they represent independent neoplasms; this may be important clinically. Our literature review revealed that, when this information was available, all patients with bilateral SLCT had a germline DICER1 mutation.
Conclusions
Bilateral ovarian SLCTs represent independent rather than metastatic neoplasms, and essentially always occur in the context of DICER1 syndrome.
Conflicts of interest
The authors have no conflicts of interest
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