Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Identifieur interne : 001C69 ( PubMed/Corpus ); précédent : 001C68; suivant : 001C70Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Auteurs : Kiril Trpkov ; Ondrej Hes ; Abbas Agaimy ; Michael Bonert ; Petr Martinek ; Cristina Magi-Galluzzi ; Glen Kristiansen ; Christine Lüders ; Gabriella Nesi ; Eva Compérat ; Mathilde Sibony ; Daniel M. Berney ; Rohit Mehra ; Fadi Brimo ; Arndt Hartmann ; Arjumand Husain ; Norma Frizzell ; Kirsten Hills ; Fiona Maclean ; Bhuvana Srinivasan ; Anthony J. GillSource :
- The American journal of surgical pathology [ 1532-0979 ] ; 2016.
English descriptors
- KwdEn :
- Adult, Aged, Carcinoma, Renal Cell (diagnosis), Carcinoma, Renal Cell (etiology), Cysteine (analogs & derivatives), Cysteine (analysis), Cysteine (biosynthesis), Female, Fumarate Hydratase (deficiency), Fumarate Hydratase (genetics), Germ-Line Mutation, Humans, Immunohistochemistry, Kidney Neoplasms (diagnosis), Kidney Neoplasms (etiology), Leiomyomatosis (diagnosis), Leiomyomatosis (genetics), Leiomyomatosis (pathology), Male, Metabolism, Inborn Errors (complications), Middle Aged, Muscle Hypotonia (complications), Neoplastic Syndromes, Hereditary (diagnosis), Neoplastic Syndromes, Hereditary (genetics), Neoplastic Syndromes, Hereditary (pathology), Psychomotor Disorders (complications), Skin Neoplasms (diagnosis), Skin Neoplasms (genetics), Skin Neoplasms (pathology), Tissue Array Analysis, Uterine Neoplasms (diagnosis), Uterine Neoplasms (genetics), Uterine Neoplasms (pathology), Young Adult.
- MESH :
- chemical , analogs & derivatives : Cysteine.
- chemical , analysis : Cysteine.
- chemical , biosynthesis : Cysteine.
- chemical , deficiency : Fumarate Hydratase.
- complications : Metabolism, Inborn Errors, Muscle Hypotonia, Psychomotor Disorders.
- diagnosis : Carcinoma, Renal Cell, Kidney Neoplasms, Leiomyomatosis, Neoplastic Syndromes, Hereditary, Skin Neoplasms, Uterine Neoplasms.
- etiology : Carcinoma, Renal Cell, Kidney Neoplasms.
- chemical , genetics : Fumarate Hydratase, Leiomyomatosis, Neoplastic Syndromes, Hereditary, Skin Neoplasms, Uterine Neoplasms.
- pathology : Leiomyomatosis, Neoplastic Syndromes, Hereditary, Skin Neoplasms, Uterine Neoplasms.
- Adult, Aged, Female, Germ-Line Mutation, Humans, Immunohistochemistry, Male, Middle Aged, Tissue Array Analysis, Young Adult.
Abstract
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry (IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-succinocysteine [2SC] positive) in cases diagnosed as "unclassified RCC, high grade or with papillary pattern," or "papillary RCC type 2," from multiple institutions. A total of 124 tumors (from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in 24/124 (19%) cases. An indeterminate result (only 1 marker abnormal) was found in 27/124 (22%) cases. In a tissue microarray of 776 RCCs of different types, only 2 (0.5%) tumors, initially considered papillary type 2, were FH deficient. FH mutations were found in 19/21 FH-deficient tumors (with confirmed germline mutations in 9 of 9 tumors in which germline status could be assessed) and in 1/26 FH-indeterminate tumors identified by IHC. No FH mutations were found in 2/21 FH-deficient RCCs, 25/26 FH-indeterminate RCCs, and 10/10 RCCs demonstrating FH expression by IHC. Patients with FH-deficient RCC had a median age of 44 years (range, 21 to 65 y). Average tumor size was 8.2 cm (range, 0.9 to 18 cm). FH-deficient RCCs were characterized by at least focal macronucleoli and demonstrated 2 or more growth patterns in 93% cases. Papillary was the most common (74%) and dominant (59%) pattern, whereas other common patterns included: solid (44%), tubulocystic (41%), cribriform (41%), and cystic (33%). At presentation, 57% were stage ≥pT3, 52% had positive nodes, and 19% had distant metastases. After a mean follow-up of 27 months (range, 1 to 114 mo), 39% of patients were dead of disease, and 26% had disease progression. We conclude that FH and 2SC are useful IHC ancillary tools, which allow recognition of FH-deficient RCC.
DOI: 10.1097/PAS.0000000000000617
PubMed: 26900816
Links to Exploration step
pubmed:26900816Le document en format XML
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Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH ‡‡University of Michigan, Ann Arbor, MI ∥∥University of South Carolina School of Medicine, Columbia, SC ¶University of Florence, Florence, Italy #Pitié-Salpêtrière Hospital, Paris, France **Hopital Cochin, APHP, Université Paris Descartes, Paris, France ††Barts Cancer Institute, Queen Mary University of London, London, United Kingdom ¶¶Sullivan Nicolaides Pathology, Gold Coast, Qld, Australia ***Mater Hospital, South Brisbane, Qld, Australia ##Douglass Hanly Moir Pathology, North Ryde, NSW, Australia †††Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Hes, Ondrej" sort="Hes, Ondrej" uniqKey="Hes O" first="Ondrej" last="Hes">Ondrej Hes</name></author><author><name sortKey="Agaimy, Abbas" sort="Agaimy, Abbas" uniqKey="Agaimy A" first="Abbas" last="Agaimy">Abbas Agaimy</name></author><author><name sortKey="Bonert, Michael" sort="Bonert, Michael" uniqKey="Bonert M" first="Michael" last="Bonert">Michael Bonert</name></author><author><name sortKey="Martinek, Petr" sort="Martinek, Petr" uniqKey="Martinek P" first="Petr" last="Martinek">Petr Martinek</name></author><author><name sortKey="Magi Galluzzi, Cristina" sort="Magi Galluzzi, Cristina" uniqKey="Magi Galluzzi C" first="Cristina" last="Magi-Galluzzi">Cristina Magi-Galluzzi</name></author><author><name sortKey="Kristiansen, Glen" sort="Kristiansen, Glen" uniqKey="Kristiansen G" first="Glen" last="Kristiansen">Glen Kristiansen</name></author><author><name sortKey="Luders, Christine" sort="Luders, Christine" uniqKey="Luders C" first="Christine" last="Lüders">Christine Lüders</name></author><author><name sortKey="Nesi, Gabriella" sort="Nesi, Gabriella" uniqKey="Nesi G" first="Gabriella" last="Nesi">Gabriella Nesi</name></author><author><name sortKey="Comperat, Eva" sort="Comperat, Eva" uniqKey="Comperat E" first="Eva" last="Compérat">Eva Compérat</name></author><author><name sortKey="Sibony, Mathilde" sort="Sibony, Mathilde" uniqKey="Sibony M" first="Mathilde" last="Sibony">Mathilde Sibony</name></author><author><name sortKey="Berney, Daniel M" sort="Berney, Daniel M" uniqKey="Berney D" first="Daniel M" last="Berney">Daniel M. Berney</name></author><author><name sortKey="Mehra, Rohit" sort="Mehra, Rohit" uniqKey="Mehra R" first="Rohit" last="Mehra">Rohit Mehra</name></author><author><name sortKey="Brimo, Fadi" sort="Brimo, Fadi" uniqKey="Brimo F" first="Fadi" last="Brimo">Fadi Brimo</name></author><author><name sortKey="Hartmann, Arndt" sort="Hartmann, Arndt" uniqKey="Hartmann A" first="Arndt" last="Hartmann">Arndt Hartmann</name></author><author><name sortKey="Husain, Arjumand" sort="Husain, Arjumand" uniqKey="Husain A" first="Arjumand" last="Husain">Arjumand Husain</name></author><author><name sortKey="Frizzell, Norma" sort="Frizzell, Norma" uniqKey="Frizzell N" first="Norma" last="Frizzell">Norma Frizzell</name></author><author><name sortKey="Hills, Kirsten" sort="Hills, Kirsten" uniqKey="Hills K" first="Kirsten" last="Hills">Kirsten Hills</name></author><author><name sortKey="Maclean, Fiona" sort="Maclean, Fiona" uniqKey="Maclean F" first="Fiona" last="Maclean">Fiona Maclean</name></author><author><name sortKey="Srinivasan, Bhuvana" sort="Srinivasan, Bhuvana" uniqKey="Srinivasan B" first="Bhuvana" last="Srinivasan">Bhuvana Srinivasan</name></author><author><name sortKey="Gill, Anthony J" sort="Gill, Anthony J" uniqKey="Gill A" first="Anthony J" last="Gill">Anthony J. Gill</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26900816</idno><idno type="pmid">26900816</idno><idno type="doi">10.1097/PAS.0000000000000617</idno><idno type="wicri:Area/PubMed/Corpus">001C69</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001C69</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.</title><author><name sortKey="Trpkov, Kiril" sort="Trpkov, Kiril" uniqKey="Trpkov K" first="Kiril" last="Trpkov">Kiril Trpkov</name><affiliation><nlm:affiliation>*Calgary Laboratory Services and University of Calgary, Calgary, AB, Canada §§McGill University, Montreal, QC, Canada †Charles University, Pilsen, Czech Republic ‡Institute of Pathology, Friedrich-Alexander-University, Erlangen-Nürnberg, Germany ∥University Clinic Bonn, Germany §Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH ‡‡University of Michigan, Ann Arbor, MI ∥∥University of South Carolina School of Medicine, Columbia, SC ¶University of Florence, Florence, Italy #Pitié-Salpêtrière Hospital, Paris, France **Hopital Cochin, APHP, Université Paris Descartes, Paris, France ††Barts Cancer Institute, Queen Mary University of London, London, United Kingdom ¶¶Sullivan Nicolaides Pathology, Gold Coast, Qld, Australia ***Mater Hospital, South Brisbane, Qld, Australia ##Douglass Hanly Moir Pathology, North Ryde, NSW, Australia †††Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Hes, Ondrej" sort="Hes, Ondrej" uniqKey="Hes O" first="Ondrej" last="Hes">Ondrej Hes</name></author><author><name sortKey="Agaimy, Abbas" sort="Agaimy, Abbas" uniqKey="Agaimy A" first="Abbas" last="Agaimy">Abbas Agaimy</name></author><author><name sortKey="Bonert, Michael" sort="Bonert, Michael" uniqKey="Bonert M" first="Michael" last="Bonert">Michael Bonert</name></author><author><name sortKey="Martinek, Petr" sort="Martinek, Petr" uniqKey="Martinek P" first="Petr" last="Martinek">Petr Martinek</name></author><author><name sortKey="Magi Galluzzi, Cristina" sort="Magi Galluzzi, Cristina" uniqKey="Magi Galluzzi C" first="Cristina" last="Magi-Galluzzi">Cristina Magi-Galluzzi</name></author><author><name sortKey="Kristiansen, Glen" sort="Kristiansen, Glen" uniqKey="Kristiansen G" first="Glen" last="Kristiansen">Glen Kristiansen</name></author><author><name sortKey="Luders, Christine" sort="Luders, Christine" uniqKey="Luders C" first="Christine" last="Lüders">Christine Lüders</name></author><author><name sortKey="Nesi, Gabriella" sort="Nesi, Gabriella" uniqKey="Nesi G" first="Gabriella" last="Nesi">Gabriella Nesi</name></author><author><name sortKey="Comperat, Eva" sort="Comperat, Eva" uniqKey="Comperat E" first="Eva" last="Compérat">Eva Compérat</name></author><author><name sortKey="Sibony, Mathilde" sort="Sibony, Mathilde" uniqKey="Sibony M" first="Mathilde" last="Sibony">Mathilde Sibony</name></author><author><name sortKey="Berney, Daniel M" sort="Berney, Daniel M" uniqKey="Berney D" first="Daniel M" last="Berney">Daniel M. Berney</name></author><author><name sortKey="Mehra, Rohit" sort="Mehra, Rohit" uniqKey="Mehra R" first="Rohit" last="Mehra">Rohit Mehra</name></author><author><name sortKey="Brimo, Fadi" sort="Brimo, Fadi" uniqKey="Brimo F" first="Fadi" last="Brimo">Fadi Brimo</name></author><author><name sortKey="Hartmann, Arndt" sort="Hartmann, Arndt" uniqKey="Hartmann A" first="Arndt" last="Hartmann">Arndt Hartmann</name></author><author><name sortKey="Husain, Arjumand" sort="Husain, Arjumand" uniqKey="Husain A" first="Arjumand" last="Husain">Arjumand Husain</name></author><author><name sortKey="Frizzell, Norma" sort="Frizzell, Norma" uniqKey="Frizzell N" first="Norma" last="Frizzell">Norma Frizzell</name></author><author><name sortKey="Hills, Kirsten" sort="Hills, Kirsten" uniqKey="Hills K" first="Kirsten" last="Hills">Kirsten Hills</name></author><author><name sortKey="Maclean, Fiona" sort="Maclean, Fiona" uniqKey="Maclean F" first="Fiona" last="Maclean">Fiona Maclean</name></author><author><name sortKey="Srinivasan, Bhuvana" sort="Srinivasan, Bhuvana" uniqKey="Srinivasan B" first="Bhuvana" last="Srinivasan">Bhuvana Srinivasan</name></author><author><name sortKey="Gill, Anthony J" sort="Gill, Anthony J" uniqKey="Gill A" first="Anthony J" last="Gill">Anthony J. Gill</name></author></analytic><series><title level="j">The American journal of surgical pathology</title><idno type="eISSN">1532-0979</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Carcinoma, Renal Cell (diagnosis)</term><term>Carcinoma, Renal Cell (etiology)</term><term>Cysteine (analogs & derivatives)</term><term>Cysteine (analysis)</term><term>Cysteine (biosynthesis)</term><term>Female</term><term>Fumarate Hydratase (deficiency)</term><term>Fumarate Hydratase (genetics)</term><term>Germ-Line Mutation</term><term>Humans</term><term>Immunohistochemistry</term><term>Kidney Neoplasms (diagnosis)</term><term>Kidney Neoplasms (etiology)</term><term>Leiomyomatosis (diagnosis)</term><term>Leiomyomatosis (genetics)</term><term>Leiomyomatosis (pathology)</term><term>Male</term><term>Metabolism, Inborn Errors (complications)</term><term>Middle Aged</term><term>Muscle Hypotonia (complications)</term><term>Neoplastic Syndromes, Hereditary (diagnosis)</term><term>Neoplastic Syndromes, Hereditary (genetics)</term><term>Neoplastic Syndromes, Hereditary (pathology)</term><term>Psychomotor Disorders (complications)</term><term>Skin Neoplasms (diagnosis)</term><term>Skin Neoplasms (genetics)</term><term>Skin Neoplasms (pathology)</term><term>Tissue Array Analysis</term><term>Uterine Neoplasms (diagnosis)</term><term>Uterine Neoplasms (genetics)</term><term>Uterine Neoplasms (pathology)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Cysteine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Cysteine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="biosynthesis" xml:lang="en"><term>Cysteine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Fumarate Hydratase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Metabolism, Inborn Errors</term><term>Muscle Hypotonia</term><term>Psychomotor Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Carcinoma, Renal Cell</term><term>Kidney Neoplasms</term><term>Leiomyomatosis</term><term>Neoplastic Syndromes, Hereditary</term><term>Skin Neoplasms</term><term>Uterine Neoplasms</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Carcinoma, Renal Cell</term><term>Kidney Neoplasms</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fumarate Hydratase</term><term>Leiomyomatosis</term><term>Neoplastic Syndromes, Hereditary</term><term>Skin Neoplasms</term><term>Uterine Neoplasms</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Leiomyomatosis</term><term>Neoplastic Syndromes, Hereditary</term><term>Skin Neoplasms</term><term>Uterine Neoplasms</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Germ-Line Mutation</term><term>Humans</term><term>Immunohistochemistry</term><term>Male</term><term>Middle Aged</term><term>Tissue Array Analysis</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry (IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-succinocysteine [2SC] positive) in cases diagnosed as "unclassified RCC, high grade or with papillary pattern," or "papillary RCC type 2," from multiple institutions. A total of 124 tumors (from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in 24/124 (19%) cases. An indeterminate result (only 1 marker abnormal) was found in 27/124 (22%) cases. In a tissue microarray of 776 RCCs of different types, only 2 (0.5%) tumors, initially considered papillary type 2, were FH deficient. FH mutations were found in 19/21 FH-deficient tumors (with confirmed germline mutations in 9 of 9 tumors in which germline status could be assessed) and in 1/26 FH-indeterminate tumors identified by IHC. No FH mutations were found in 2/21 FH-deficient RCCs, 25/26 FH-indeterminate RCCs, and 10/10 RCCs demonstrating FH expression by IHC. Patients with FH-deficient RCC had a median age of 44 years (range, 21 to 65 y). Average tumor size was 8.2 cm (range, 0.9 to 18 cm). FH-deficient RCCs were characterized by at least focal macronucleoli and demonstrated 2 or more growth patterns in 93% cases. Papillary was the most common (74%) and dominant (59%) pattern, whereas other common patterns included: solid (44%), tubulocystic (41%), cribriform (41%), and cystic (33%). At presentation, 57% were stage ≥pT3, 52% had positive nodes, and 19% had distant metastases. After a mean follow-up of 27 months (range, 1 to 114 mo), 39% of patients were dead of disease, and 26% had disease progression. We conclude that FH and 2SC are useful IHC ancillary tools, which allow recognition of FH-deficient RCC.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26900816</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>14</Day></DateCreated><DateCompleted><Year>2017</Year><Month>07</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>07</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1532-0979</ISSN><JournalIssue CitedMedium="Internet"><Volume>40</Volume><Issue>7</Issue><PubDate><Year>2016</Year><Month>Jul</Month></PubDate></JournalIssue><Title>The American journal of surgical pathology</Title><ISOAbbreviation>Am. J. Surg. Pathol.</ISOAbbreviation></Journal><ArticleTitle>Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.</ArticleTitle><Pagination><MedlinePgn>865-75</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1097/PAS.0000000000000617</ELocationID><Abstract><AbstractText>Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry (IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-succinocysteine [2SC] positive) in cases diagnosed as "unclassified RCC, high grade or with papillary pattern," or "papillary RCC type 2," from multiple institutions. A total of 124 tumors (from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in 24/124 (19%) cases. An indeterminate result (only 1 marker abnormal) was found in 27/124 (22%) cases. In a tissue microarray of 776 RCCs of different types, only 2 (0.5%) tumors, initially considered papillary type 2, were FH deficient. FH mutations were found in 19/21 FH-deficient tumors (with confirmed germline mutations in 9 of 9 tumors in which germline status could be assessed) and in 1/26 FH-indeterminate tumors identified by IHC. No FH mutations were found in 2/21 FH-deficient RCCs, 25/26 FH-indeterminate RCCs, and 10/10 RCCs demonstrating FH expression by IHC. Patients with FH-deficient RCC had a median age of 44 years (range, 21 to 65 y). Average tumor size was 8.2 cm (range, 0.9 to 18 cm). FH-deficient RCCs were characterized by at least focal macronucleoli and demonstrated 2 or more growth patterns in 93% cases. Papillary was the most common (74%) and dominant (59%) pattern, whereas other common patterns included: solid (44%), tubulocystic (41%), cribriform (41%), and cystic (33%). At presentation, 57% were stage ≥pT3, 52% had positive nodes, and 19% had distant metastases. After a mean follow-up of 27 months (range, 1 to 114 mo), 39% of patients were dead of disease, and 26% had disease progression. We conclude that FH and 2SC are useful IHC ancillary tools, which allow recognition of FH-deficient RCC.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Trpkov</LastName><ForeName>Kiril</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>*Calgary Laboratory Services and University of Calgary, Calgary, AB, Canada §§McGill University, Montreal, QC, Canada †Charles University, Pilsen, Czech Republic ‡Institute of Pathology, Friedrich-Alexander-University, Erlangen-Nürnberg, Germany ∥University Clinic Bonn, Germany §Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH ‡‡University of Michigan, Ann Arbor, MI ∥∥University of South Carolina School of Medicine, Columbia, SC ¶University of Florence, Florence, Italy #Pitié-Salpêtrière Hospital, Paris, France **Hopital Cochin, APHP, Université Paris Descartes, Paris, France ††Barts Cancer Institute, Queen Mary University of London, London, United Kingdom ¶¶Sullivan Nicolaides Pathology, Gold Coast, Qld, Australia ***Mater Hospital, South Brisbane, Qld, Australia ##Douglass Hanly Moir Pathology, North Ryde, NSW, Australia †††Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hes</LastName><ForeName>Ondrej</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Agaimy</LastName><ForeName>Abbas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bonert</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Martinek</LastName><ForeName>Petr</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Magi-Galluzzi</LastName><ForeName>Cristina</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Kristiansen</LastName><ForeName>Glen</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Lüders</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Nesi</LastName><ForeName>Gabriella</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Compérat</LastName><ForeName>Eva</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Sibony</LastName><ForeName>Mathilde</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Berney</LastName><ForeName>Daniel M</ForeName><Initials>DM</Initials></Author><Author ValidYN="Y"><LastName>Mehra</LastName><ForeName>Rohit</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Brimo</LastName><ForeName>Fadi</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hartmann</LastName><ForeName>Arndt</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Husain</LastName><ForeName>Arjumand</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Frizzell</LastName><ForeName>Norma</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Hills</LastName><ForeName>Kirsten</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Maclean</LastName><ForeName>Fiona</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Srinivasan</LastName><ForeName>Bhuvana</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Gill</LastName><ForeName>Anthony J</ForeName><Initials>AJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Surg Pathol</MedlineTA><NlmUniqueID>7707904</NlmUniqueID><ISSNLinking>0147-5185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C511650">S-(2-succinyl)cysteine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 4.2.1.2</RegistryNumber><NameOfSubstance UI="D005649">Fumarate Hydratase</NameOfSubstance></Chemical><Chemical><RegistryNumber>K848JZ4886</RegistryNumber><NameOfSubstance UI="D003545">Cysteine</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C538191">Fumaric aciduria</SupplMeshName><SupplMeshName Type="Disease" UI="C535516">Hereditary leiomyomatosis and renal cell 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