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.
Keywords:
Complexe SWI/SNF; Consultation d’oncogénétique; EZH2; Oncogenetic consultation; Rhabdoid tumor; SCCOHT; SMARCA4/BRG1; SWI/SNF complex; Tumeur rhabdoïde.
Copyright © 2019. Published by Elsevier Masson SAS.
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Biomarkers, Tumor / analysis
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Carcinoma, Small Cell / chemistry
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Carcinoma, Small Cell / epidemiology
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Carcinoma, Small Cell / genetics
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Carcinoma, Small Cell / secondary*
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Combined Modality Therapy
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DNA Helicases / genetics
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Diagnosis, Differential
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Fatal Outcome
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Female
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Heterozygote
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Humans
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Hypercalcemia / etiology
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Liver Neoplasms / drug therapy
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Liver Neoplasms / secondary
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Neoplasm Proteins / genetics
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Neoplasms, Multiple Primary / chemistry
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Neoplasms, Multiple Primary / epidemiology
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Neoplasms, Multiple Primary / genetics
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Neoplasms, Multiple Primary / pathology*
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Nuclear Proteins / genetics
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Ovarian Neoplasms / chemistry
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Ovarian Neoplasms / epidemiology
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Ovarian Neoplasms / genetics
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Ovarian Neoplasms / pathology*
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Paraneoplastic Syndromes / etiology
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Peritoneal Neoplasms / secondary*
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Peritoneal Neoplasms / surgery
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Point Mutation
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Rhabdoid Tumor / chemistry
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Rhabdoid Tumor / epidemiology
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / secondary*
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Sarcoma, Ewing / diagnosis
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Transcription Factors / genetics
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Young Adult
Substances
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Biomarkers, Tumor
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Neoplasm Proteins
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Nuclear Proteins
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Transcription Factors
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SMARCA4 protein, human
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DNA Helicases