C S Chandan, Mir Abdul Waheed, Mir Ab Wahid, Dar Firdous Ahmad, Yasin Syed Besina
Department of Surgical Oncology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K India.
Department of Critical Care Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, J&K India.
Indian J Surg Oncol. 2024 Dec;15(4):748-751. doi: 10.1007/s13193-024-01979-x. Epub 2024 Jun 25.
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.
卵巢高钙血症型小细胞癌(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中。它占所有卵巢恶性肿瘤的比例不到0.01%,迄今为止医学文献中报道的病例约有500例。据推测,这些病例可能是由于基因改变引起的,2014年,研究发现SCCOHT的特征是SMARCA4基因存在种系和体细胞有害突变。在这个病例系列中,我们报告了两例被诊断为卵巢癌且发现存在SMARCA4突变的病例。该病例系列中的患者相对年轻,均存在种系SMARCA4突变。第一位患者为国际妇产科联盟(FIGO)IV期疾病,第二位患者为FIGO III期疾病。第一位患者开始接受紫杉醇加卡铂治疗,第二位患者开始接受吉西他滨加多西他赛治疗。一名患者在1年内死于疾病,另一名患者目前仍存活,但疾病进展。SCCOHT极具侵袭性,需要早期诊断和治疗。早期诊断和恰当治疗可能会延长生存期。由于传统治疗方案很少足够有效,因此有必要评估靶向全身治疗方案的可能作用。