[SCCOHT/ovarian rhabdoid tumor: A case report].

• 影响指数: 0.411
• 发表时间: Sep 2019
• 来源期刊: Ann Pathol
• DOI: 10.1016/j.annpat.2019.02.005
• PMID: 30928254
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Bourgoin R,Cornelis F,Masliah-Planchon J,Genestie C,Laé M

关键词: Complexe SWI/SNF; Consultation d’oncogénétique; EZH2; Oncogenetic consultation; Rhabdoid tumor; SCCOHT; SMARCA4/BRG1; SWI/SNF complex; Tumeur rhabdoïde

Mesh: Antineoplastic Combined Chemotherapy Protocols / therapeutic use; Biomarkers, Tumor / analysis; Carcinoma, Small Cell / chemistry epidemiology genetics secondary; Combined Modality Therapy; DNA Helicases / genetics; Diagnosis, Differential; Fatal Outcome; Female; Heterozygote; Humans; Hypercalcemia / etiology; Liver Neoplasms / drug therapy secondary; Neoplasm Proteins / genetics; Neoplasms, Multiple Primary / chemistry epidemiology genetics pathology; Nuclear Proteins / genetics; Ovarian Neoplasms / chemistry epidemiology genetics pathology; Paraneoplastic Syndromes / etiology; Peritoneal Neoplasms / secondary surgery; Point Mutation; Rhabdoid Tumor / chemistry epidemiology genetics secondary; Sarcoma, Ewing / diagnosis; Transcription Factors / genetics; Young Adult

Abstract

We report the case of a 22-year-old patient with acute abdominopelvic pain. The diagnosis of hypercalcemic small cell carcinoma (SCCOHT)/ovarian rhabdoid tumor has been made. Small cell carcinoma of hypercalcemic type is a rare and aggressive tumor that occurs in young women. The diagnosis of this tumor and the management must be rapid in view of its aggressiveness. Through this observation, we specify the epidemiological, diagnostic, molecular aspects and discussions about its name.