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abstract
Highlights
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- All SCCOHT patients should undergo genetic testing for germline SMARCA4 mutations.
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- HDC-aSCR may offer SCCOHT patients the best outcome, and should be studied further.
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 < 15 years; 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.
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