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Gynecol Oncol. 2016 Jun;141(3):454-460. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.

The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

Author information

1
Department of Human Genetics, McGill University, Montreal, QC, Canada.
2
Department of Pediatrics, McGill University, Montreal, QC, Canada.
3
Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
4
Lady Davis Institute and Segal Cancer Center, Jewish General Hospital, Montreal, QC, Canada.
5
SSENSE, Montréal, QC, Canada.
6
BC Cancer Agency, Vancouver, BC, Canada.
7
Cancer Genetics Unit & INSERM U916, Institut Bergonié, Université de Bordeaux, Bordeaux, France.
8
Illinois Cancer Care, Peoria, IL, USA.
9
Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
10
Department of Pathology, Belfast Health and Social Care Trust, Belfast, United Kingdom.
11
Department of Histopathology, King Edward Memorial Hospital, Perth, Australia.
12
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
13
Department of Medical Oncology, Gustave Roussy, Villejuif, France.
14
Department of Surgery, Memorial Sloan Kettering Cancer Center, NY, New York, USA.
15
Duke University Medical Center, Durham, NC, USA.
16
Institute of Neuropathology, University Hospital Münster, Münster, Germany.
17
Department of Human Genetics, McGill University, Montreal, QC, Canada; Lady Davis Institute and Segal Cancer Center, Jewish General Hospital, Montreal, QC, Canada; Department of Medical Genetics and Cancer Research Program, Research Institute, McGill University Health Centre, Montreal, QC, Canada. Electronic address: William.foulkes@mcgill.ca.

Abstract

OBJECTIVE:

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive tumor, with long term survival at ~30% in early stage disease. SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown. Furthermore, the rarity of SCCOHT has resulted in varied treatment, with no standardized protocols. We analyzed 293 cases to determine the effect of treatment modalities and SMARCA4 mutations on patient diagnosis and outcome.

METHODS:

In 293 SCCOHT patients we collected information on age and stage at diagnosis, treatment modality (surgery, chemotherapy, radiotherapy, and/or high-dose chemotherapy with autologous stem cell rescue (HDC-aSCR)), SMARCA4 mutation origin (germline/somatic), and overall survival. Cox analysis and log-rank tests were performed on 257 cases with available survival data.

RESULTS:

The strongest prognostic factors were stage at diagnosis (p=2.72e-15) and treatment modality (p=3.87e-13). For FIGO stages II-IV, 5-year survival was 71% for patients who received HDC-aSCR, compared to 25% in patients who received conventional chemotherapy alone following surgery (p=0.002). Patients aged ≥40 had a worse outcome than younger patients (p=0.04). Twenty-six of 60 tested patients carried a germline SMARCA4 mutation, including all patients diagnosed <15years; carriers presented at a younger age than non-carriers (p=0.02).

CONCLUSIONS:

Stage at diagnosis is the most significant prognostic factor in SCCOHT and consolidation with HDC-aSCR may provide the best opportunity for long-term survival. The large fraction of SMARCA4 germline mutations carriers warrants genetic counseling for all patients.

KEYWORDS:

Chemotherapy; Mutation; Ovarian cancer; SCCOHT; SMARCA4; Stem cell rescue

PMID:
26975901
DOI:
10.1016/j.ygyno.2016.03.013
[Indexed for MEDLINE]

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