[SCCOHT/ovarian rhabdoid tumor: A case report]

Rémi Bourgoin; Françoise Cornelis; Julien Masliah-Planchon; Catherine Genestie; Marick Laé

doi:10.1016/j.annpat.2019.02.005

[SCCOHT/ovarian rhabdoid tumor: A case report]

Ann Pathol. 2019 Sep;39(5):357-363. doi: 10.1016/j.annpat.2019.02.005. Epub 2019 Mar 27.

[Article in French]

Authors

Rémi Bourgoin¹, Françoise Cornelis², Julien Masliah-Planchon³, Catherine Genestie⁴, Marick Laé⁵

Affiliations

¹ Service de pathologie, institut Curie-Paris, 26, rue d'Ulm, 75248 Paris, France; Service de pathologie, hôpital Lariboisière, 2, rue Ambroise Paré, 75475 Paris, France. Electronic address: bourgoin.remi@gmail.com.
² Service de pathologie, hôpital Lariboisière, 2, rue Ambroise Paré, 75475 Paris, France.
³ Service de génétique, institut Curie-Paris, 26, rue d'Ulm, 75248 Paris, France.
⁴ Service de pathologie, 114, rue Edouard Vaillant, 94805 Gustave Roussy, France.
⁵ Service de pathologie, institut Curie-Paris, 26, rue d'Ulm, 75248 Paris, France; Inserm U1245, service de pathologie, centre Henri Becquerel, UniRouen Normandie université, rue d'Amiens 76000 Rouen, France.

PMID: 30928254
DOI: 10.1016/j.annpat.2019.02.005

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.

Publication types

Case Reports
Review

MeSH terms

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

Substances

Biomarkers, Tumor
Neoplasm Proteins
Nuclear Proteins
Transcription Factors
SMARCA4 protein, human
DNA Helicases