Chandan C S, Abdul Waheed Mir, Ab Wahid Mir, Firdous Ahmad Dar, Syed Besina Yasin
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引用次数: 0
摘要
高钙型卵巢小细胞癌(SCCOHT)是一种罕见的侵袭性癌症,主要发生在青少年和年轻女性身上。它在所有卵巢恶性肿瘤中所占比例不到 0.01%,迄今为止,医学文献中报道的病例约有 500 例。有人推测这些病例可能是由于基因改变所致,2014年,研究发现SCCOHT的特征是SMARCA4的种系和体细胞缺陷性突变。在本病例系列中,我们报告了两例确诊为卵巢癌的病例,发现其存在SMARCA4基因突变。这组病例中的患者都比较年轻,而且都有 SMARCA4 基因突变。第一例患者为 FIGO IV 期,第二例患者为 FIGO III 期。第一例患者开始使用紫杉醇加卡铂,第二例患者开始使用吉西他滨加多西他赛。其中一名患者在 1 年内病逝,另一名患者因病情恶化而存活至今。SCCOHT 具有很强的侵袭性,需要早期诊断和治疗。早期诊断和适当治疗可延长生存期。由于传统疗法很少有足够的疗效,因此有必要评估系统性靶向治疗方案可能发挥的作用。
Hypercalcemic Ovarian Carcinoma (Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)): A Case Series and Review of Literature of a Rare Malignancy.
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is one of the rare and aggressive cancers occurring mainly in adolescents and young women. It accounts for less than 0.01% of all ovarian malignancies, with around 500 cases reported to date in the medical literature. It has been postulated that these cases could be due to genetic alterations, and in 2014, studies discovered that SCCOHT is characterized by both germline and somatic deleterious mutations in SMARCA4. In this case series, we report two cases diagnosed with carcinoma ovary and found to be having mutations in SMARCA4. The patients in this case series were relatively young and both had germline SMARCA4 mutation. The first patient had FIGO stage IV disease and the second patient had FIGO stage III disease. The first patient started with paclitaxel plus carboplatin and the second patient started with gemcitabine plus docetaxel. One patient succumbed to disease within 1 year and another patient is alive at present with progression of disease. SCCOHT is very aggressive and needs diagnosis and treatment at an early stage. Early diagnosis and proper treatment may prolong survival. There is a need for evaluation of the possible role of targeted systemic therapeutic options as the conventional regimens are rarely sufficient.
期刊介绍:
The Indian Journal of Surgical Oncology aims to encourage and promote clinical and research activities pertaining to Surgical Oncology. It also aims to bring in the concept of multidisciplinary team approach in management of various cancers.
The Journal would publish original article, point of technique, review article, case report, letter to editor, profiles of eminent teachers, surgeons and instititions - a short (up to 500 words) of the Cancer Institutions, departments, and oncologist, who founded new departments.