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The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

Identifieur interne : 001E15 ( PubMed/Corpus ); précédent : 001E14; suivant : 001E16

The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

Auteurs : Leora Witkowski ; Catherine Goudie ; Pilar Ramos ; Talia Boshari ; Jean-Sebastien Brunet ; Anthony N. Karnezis ; Michel Longy ; James A. Knost ; Emmanouil Saloustros ; W Glenn Mccluggage ; Colin J R. Stewart ; William P D. Hendricks ; Heather Cunliffe ; David G. Huntsman ; Patricia Pautier ; Douglas A. Levine ; Jeffrey M. Trent ; Andrew Berchuck ; Martin Hasselblatt ; William D. Foulkes

Source :

RBID : pubmed:26975901

English descriptors

Abstract

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive tumor, with long term survival at ~30% in early stage disease. SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown. Furthermore, the rarity of SCCOHT has resulted in varied treatment, with no standardized protocols. We analyzed 293 cases to determine the effect of treatment modalities and SMARCA4 mutations on patient diagnosis and outcome.

DOI: 10.1016/j.ygyno.2016.03.013
PubMed: 26975901

Links to Exploration step

pubmed:26975901

Le document en format XML

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<name sortKey="Ramos, Pilar" sort="Ramos, Pilar" uniqKey="Ramos P" first="Pilar" last="Ramos">Pilar Ramos</name>
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<name sortKey="Boshari, Talia" sort="Boshari, Talia" uniqKey="Boshari T" first="Talia" last="Boshari">Talia Boshari</name>
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<name sortKey="Pautier, Patricia" sort="Pautier, Patricia" uniqKey="Pautier P" first="Patricia" last="Pautier">Patricia Pautier</name>
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<name sortKey="Boshari, Talia" sort="Boshari, Talia" uniqKey="Boshari T" first="Talia" last="Boshari">Talia Boshari</name>
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<name sortKey="Karnezis, Anthony N" sort="Karnezis, Anthony N" uniqKey="Karnezis A" first="Anthony N" last="Karnezis">Anthony N. Karnezis</name>
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<name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name>
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<name sortKey="Knost, James A" sort="Knost, James A" uniqKey="Knost J" first="James A" last="Knost">James A. Knost</name>
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<nlm:affiliation>Illinois Cancer Care, Peoria, IL, USA.</nlm:affiliation>
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<name sortKey="Saloustros, Emmanouil" sort="Saloustros, Emmanouil" uniqKey="Saloustros E" first="Emmanouil" last="Saloustros">Emmanouil Saloustros</name>
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<name sortKey="Mccluggage, W Glenn" sort="Mccluggage, W Glenn" uniqKey="Mccluggage W" first="W Glenn" last="Mccluggage">W Glenn Mccluggage</name>
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<nlm:affiliation>Department of Pathology, Belfast Health and Social Care Trust, Belfast, United Kingdom.</nlm:affiliation>
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<name sortKey="Stewart, Colin J R" sort="Stewart, Colin J R" uniqKey="Stewart C" first="Colin J R" last="Stewart">Colin J R. Stewart</name>
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<nlm:affiliation>Department of Histopathology, King Edward Memorial Hospital, Perth, Australia.</nlm:affiliation>
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<name sortKey="Hendricks, William P D" sort="Hendricks, William P D" uniqKey="Hendricks W" first="William P D" last="Hendricks">William P D. Hendricks</name>
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<nlm:affiliation>Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Cunliffe, Heather" sort="Cunliffe, Heather" uniqKey="Cunliffe H" first="Heather" last="Cunliffe">Heather Cunliffe</name>
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<nlm:affiliation>Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.</nlm:affiliation>
</affiliation>
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<name sortKey="Huntsman, David G" sort="Huntsman, David G" uniqKey="Huntsman D" first="David G" last="Huntsman">David G. Huntsman</name>
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<nlm:affiliation>BC Cancer Agency, Vancouver, BC, Canada.</nlm:affiliation>
</affiliation>
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<name sortKey="Pautier, Patricia" sort="Pautier, Patricia" uniqKey="Pautier P" first="Patricia" last="Pautier">Patricia Pautier</name>
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<nlm:affiliation>Department of Medical Oncology, Gustave Roussy, Villejuif, France.</nlm:affiliation>
</affiliation>
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<name sortKey="Levine, Douglas A" sort="Levine, Douglas A" uniqKey="Levine D" first="Douglas A" last="Levine">Douglas A. Levine</name>
<affiliation>
<nlm:affiliation>Department of Surgery, Memorial Sloan Kettering Cancer Center, NY, New York, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Trent, Jeffrey M" sort="Trent, Jeffrey M" uniqKey="Trent J" first="Jeffrey M" last="Trent">Jeffrey M. Trent</name>
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<nlm:affiliation>Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Berchuck, Andrew" sort="Berchuck, Andrew" uniqKey="Berchuck A" first="Andrew" last="Berchuck">Andrew Berchuck</name>
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<nlm:affiliation>Duke University Medical Center, Durham, NC, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Hasselblatt, Martin" sort="Hasselblatt, Martin" uniqKey="Hasselblatt M" first="Martin" last="Hasselblatt">Martin Hasselblatt</name>
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<nlm:affiliation>Institute of Neuropathology, University Hospital Münster, Münster, Germany.</nlm:affiliation>
</affiliation>
</author>
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<name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name>
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<nlm:affiliation>Department of Human Genetics, McGill University, Montreal, QC, Canada; Lady Davis Institute and Segal Cancer Center, Jewish General Hospital, Montreal, QC, Canada; Department of Medical Genetics and Cancer Research Program, Research Institute, McGill University Health Centre, Montreal, QC, Canada. Electronic address: William.foulkes@mcgill.ca.</nlm:affiliation>
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<title level="j">Gynecologic oncology</title>
<idno type="eISSN">1095-6859</idno>
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<term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Carcinoma, Small Cell (genetics)</term>
<term>Carcinoma, Small Cell (pathology)</term>
<term>Carcinoma, Small Cell (therapy)</term>
<term>Child</term>
<term>Cohort Studies</term>
<term>DNA Helicases (genetics)</term>
<term>Female</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>Hypercalcemia (genetics)</term>
<term>Hypercalcemia (pathology)</term>
<term>Hypercalcemia (therapy)</term>
<term>Kaplan-Meier Estimate</term>
<term>Neoplasm Staging</term>
<term>Nuclear Proteins (genetics)</term>
<term>Ovarian Neoplasms (genetics)</term>
<term>Ovarian Neoplasms (pathology)</term>
<term>Ovarian Neoplasms (therapy)</term>
<term>Prognosis</term>
<term>Transcription Factors (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>DNA Helicases</term>
<term>Nuclear Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Carcinoma, Small Cell</term>
<term>Hypercalcemia</term>
<term>Ovarian Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en">
<term>Carcinoma, Small Cell</term>
<term>Hypercalcemia</term>
<term>Ovarian Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en">
<term>Carcinoma, Small Cell</term>
<term>Hypercalcemia</term>
<term>Ovarian Neoplasms</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>Kaplan-Meier Estimate</term>
<term>Neoplasm Staging</term>
<term>Prognosis</term>
<term>Young Adult</term>
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<front>
<div type="abstract" xml:lang="en">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive tumor, with long term survival at ~30% in early stage disease. SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown. Furthermore, the rarity of SCCOHT has resulted in varied treatment, with no standardized protocols. We analyzed 293 cases to determine the effect of treatment modalities and SMARCA4 mutations on patient diagnosis and outcome.</div>
</front>
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<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">26975901</PMID>
<DateCreated>
<Year>2016</Year>
<Month>05</Month>
<Day>23</Day>
</DateCreated>
<DateCompleted>
<Year>2017</Year>
<Month>05</Month>
<Day>01</Day>
</DateCompleted>
<DateRevised>
<Year>2017</Year>
<Month>11</Month>
<Day>11</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1095-6859</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>141</Volume>
<Issue>3</Issue>
<PubDate>
<Year>2016</Year>
<Month>06</Month>
</PubDate>
</JournalIssue>
<Title>Gynecologic oncology</Title>
<ISOAbbreviation>Gynecol. Oncol.</ISOAbbreviation>
</Journal>
<ArticleTitle>The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.</ArticleTitle>
<Pagination>
<MedlinePgn>454-460</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0090-8258(16)30071-3</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ygyno.2016.03.013</ELocationID>
<Abstract>
<AbstractText Label="OBJECTIVE">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive tumor, with long term survival at ~30% in early stage disease. SCCOHT is caused by germline and somatic SMARCA4 mutations, but the effect of the mutation type on patients remains unknown. Furthermore, the rarity of SCCOHT has resulted in varied treatment, with no standardized protocols. We analyzed 293 cases to determine the effect of treatment modalities and SMARCA4 mutations on patient diagnosis and outcome.</AbstractText>
<AbstractText Label="METHODS">In 293 SCCOHT patients we collected information on age and stage at diagnosis, treatment modality (surgery, chemotherapy, radiotherapy, and/or high-dose chemotherapy with autologous stem cell rescue (HDC-aSCR)), SMARCA4 mutation origin (germline/somatic), and overall survival. Cox analysis and log-rank tests were performed on 257 cases with available survival data.</AbstractText>
<AbstractText Label="RESULTS">The strongest prognostic factors were stage at diagnosis (p=2.72e-15) and treatment modality (p=3.87e-13). For FIGO stages II-IV, 5-year survival was 71% for patients who received HDC-aSCR, compared to 25% in patients who received conventional chemotherapy alone following surgery (p=0.002). Patients aged ≥40 had a worse outcome than younger patients (p=0.04). Twenty-six of 60 tested patients carried a germline SMARCA4 mutation, including all patients diagnosed <15years; carriers presented at a younger age than non-carriers (p=0.02).</AbstractText>
<AbstractText Label="CONCLUSIONS">Stage at diagnosis is the most significant prognostic factor in SCCOHT and consolidation with HDC-aSCR may provide the best opportunity for long-term survival. The large fraction of SMARCA4 germline mutations carriers warrants genetic counseling for all patients.</AbstractText>
<CopyrightInformation>Copyright © 2016 Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
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<LastName>Witkowski</LastName>
<ForeName>Leora</ForeName>
<Initials>L</Initials>
<AffiliationInfo>
<Affiliation>Department of Human Genetics, McGill University, Montreal, QC, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Goudie</LastName>
<ForeName>Catherine</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Department of Pediatrics, McGill University, Montreal, QC, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Ramos</LastName>
<ForeName>Pilar</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Boshari</LastName>
<ForeName>Talia</ForeName>
<Initials>T</Initials>
<AffiliationInfo>
<Affiliation>Lady Davis Institute and Segal Cancer Center, Jewish General Hospital, Montreal, QC, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Brunet</LastName>
<ForeName>Jean-Sebastien</ForeName>
<Initials>JS</Initials>
<AffiliationInfo>
<Affiliation>SSENSE, Montréal, QC, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Karnezis</LastName>
<ForeName>Anthony N</ForeName>
<Initials>AN</Initials>
<AffiliationInfo>
<Affiliation>BC Cancer Agency, Vancouver, BC, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Longy</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Cancer Genetics Unit & INSERM U916, Institut Bergonié, Université de Bordeaux, Bordeaux, France.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Knost</LastName>
<ForeName>James A</ForeName>
<Initials>JA</Initials>
<AffiliationInfo>
<Affiliation>Illinois Cancer Care, Peoria, IL, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Saloustros</LastName>
<ForeName>Emmanouil</ForeName>
<Initials>E</Initials>
<AffiliationInfo>
<Affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>McCluggage</LastName>
<ForeName>W Glenn</ForeName>
<Initials>WG</Initials>
<AffiliationInfo>
<Affiliation>Department of Pathology, Belfast Health and Social Care Trust, Belfast, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Stewart</LastName>
<ForeName>Colin J R</ForeName>
<Initials>CJR</Initials>
<AffiliationInfo>
<Affiliation>Department of Histopathology, King Edward Memorial Hospital, Perth, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hendricks</LastName>
<ForeName>William P D</ForeName>
<Initials>WPD</Initials>
<AffiliationInfo>
<Affiliation>Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Cunliffe</LastName>
<ForeName>Heather</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Huntsman</LastName>
<ForeName>David G</ForeName>
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<MeshHeading>
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<MeshHeading>
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<Keyword MajorTopicYN="Y">Mutation</Keyword>
<Keyword MajorTopicYN="Y">Ovarian cancer</Keyword>
<Keyword MajorTopicYN="Y">SCCOHT</Keyword>
<Keyword MajorTopicYN="Y">SMARCA4</Keyword>
<Keyword MajorTopicYN="Y">Stem cell rescue</Keyword>
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<Month>01</Month>
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<Year>2016</Year>
<Month>03</Month>
<Day>09</Day>
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<Year>2016</Year>
<Month>03</Month>
<Day>10</Day>
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