The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type
The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type
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DOI：
10.1016/j.ygyno.2016.03.013
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发表时间：
2016-06-01
影响因子：
4.7
通讯作者：
Foulkes, William D.
中科院分区：
文献类型：
--
作者：
Witkowski, Leora;Goudie, Catherine;Foulkes, William D.
Objective.高钙型卵巢小细胞癌（SCCOHT）是一种侵袭性肿瘤，早期疾病的长期生存率为30%。SCCOHT是由生殖细胞和体细胞SMARCA 4突变引起的，但突变类型对患者的影响尚不清楚。此外，SCCOHT的罕见性导致了不同的治疗，没有标准化的方案。我们分析了293例病例，以确定治疗方式和SMARCA 4突变对患者诊断和结局的影响。在293例SCCOHT患者中，我们收集了诊断时的年龄和分期、治疗方式（手术、化疗、放疗和/或高剂量化疗联合自体干细胞挽救（HDC-aSCR））、SMARCA 4突变来源（生殖细胞/体细胞）和总生存期的信息。对257例有生存资料的病例进行考克斯分析和logrank检验。最强的预后因素是诊断时的分期（p = 2.72e-15）和治疗方式（p = 3.87e-13）。对于FIGO II-IV期，接受HDC-aSCR的患者的5年生存率为71%，而手术后仅接受常规化疗的患者为25%（p = 0.002）。年龄≥ 40岁的患者比年轻患者的预后更差（p = 0.04）。60名接受检测的患者中有26名携带生殖系SMARCA 4突变，包括所有诊断为
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