Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Identifieur interne : 001E70 ( Main/Exploration ); précédent : 001E69; suivant : 001E71Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Auteurs : Kiril Trpkov [Australie] ; 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.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse sur puce à tissus, Cystéine (analogues et dérivés), Cystéine (analyse), Cystéine (biosynthèse), Erreurs innées du métabolisme (), Femelle, Fumarate hydratase (déficit), Fumarate hydratase (génétique), Humains, Hypotonie musculaire (), Immunohistochimie, Jeune adulte, Léiomyomatose (anatomopathologie), Léiomyomatose (diagnostic), Léiomyomatose (génétique), Mutation germinale, Mâle, Néphrocarcinome (diagnostic), Néphrocarcinome (étiologie), Sujet âgé, Syndromes néoplasiques héréditaires (anatomopathologie), Syndromes néoplasiques héréditaires (diagnostic), Syndromes néoplasiques héréditaires (génétique), Troubles psychomoteurs (), Tumeurs cutanées (anatomopathologie), Tumeurs cutanées (diagnostic), Tumeurs cutanées (génétique), Tumeurs de l'utérus (anatomopathologie), Tumeurs de l'utérus (diagnostic), Tumeurs de l'utérus (génétique), Tumeurs du rein (diagnostic), Tumeurs du rein (étiologie).
- MESH :
- analogues et dérivés : Cystéine.
- analyse : Cystéine.
- anatomopathologie : Léiomyomatose, Syndromes néoplasiques héréditaires, Tumeurs cutanées, Tumeurs de l'utérus.
- biosynthèse : Cystéine.
- diagnostic : Léiomyomatose, Néphrocarcinome, Syndromes néoplasiques héréditaires, Tumeurs cutanées, Tumeurs de l'utérus, Tumeurs du rein.
- déficit : Fumarate hydratase.
- génétique : Fumarate hydratase, Léiomyomatose, Syndromes néoplasiques héréditaires, Tumeurs cutanées, Tumeurs de l'utérus.
- étiologie : Néphrocarcinome, Tumeurs du rein.
- Adulte, Adulte d'âge moyen, Analyse sur puce à tissus, Erreurs innées du métabolisme, Femelle, Humains, Hypotonie musculaire, Immunohistochimie, Jeune adulte, Mutation germinale, Mâle, Sujet âgé, Troubles psychomoteurs.
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
Affiliations:
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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><country xml:lang="fr">Australie</country><wicri:regionArea>*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</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></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. 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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><country xml:lang="fr">Australie</country><wicri:regionArea>*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</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></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="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse sur puce à tissus</term><term>Cystéine (analogues et dérivés)</term><term>Cystéine (analyse)</term><term>Cystéine (biosynthèse)</term><term>Erreurs innées du métabolisme ()</term><term>Femelle</term><term>Fumarate hydratase (déficit)</term><term>Fumarate hydratase (génétique)</term><term>Humains</term><term>Hypotonie musculaire ()</term><term>Immunohistochimie</term><term>Jeune adulte</term><term>Léiomyomatose (anatomopathologie)</term><term>Léiomyomatose (diagnostic)</term><term>Léiomyomatose (génétique)</term><term>Mutation germinale</term><term>Mâle</term><term>Néphrocarcinome (diagnostic)</term><term>Néphrocarcinome (étiologie)</term><term>Sujet âgé</term><term>Syndromes néoplasiques héréditaires (anatomopathologie)</term><term>Syndromes néoplasiques héréditaires (diagnostic)</term><term>Syndromes néoplasiques héréditaires (génétique)</term><term>Troubles psychomoteurs ()</term><term>Tumeurs cutanées (anatomopathologie)</term><term>Tumeurs cutanées (diagnostic)</term><term>Tumeurs cutanées (génétique)</term><term>Tumeurs de l'utérus (anatomopathologie)</term><term>Tumeurs de l'utérus (diagnostic)</term><term>Tumeurs de l'utérus (génétique)</term><term>Tumeurs du rein (diagnostic)</term><term>Tumeurs du rein (étiologie)</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="analogues et dérivés" xml:lang="fr"><term>Cystéine</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>Cystéine</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Léiomyomatose</term><term>Syndromes néoplasiques héréditaires</term><term>Tumeurs cutanées</term><term>Tumeurs de l'utérus</term></keywords><keywords scheme="MESH" qualifier="biosynthèse" xml:lang="fr"><term>Cystéine</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="diagnostic" xml:lang="fr"><term>Léiomyomatose</term><term>Néphrocarcinome</term><term>Syndromes néoplasiques héréditaires</term><term>Tumeurs cutanées</term><term>Tumeurs de l'utérus</term><term>Tumeurs du rein</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Fumarate hydratase</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="génétique" xml:lang="fr"><term>Fumarate hydratase</term><term>Léiomyomatose</term><term>Syndromes néoplasiques héréditaires</term><term>Tumeurs cutanées</term><term>Tumeurs de l'utérus</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" qualifier="étiologie" xml:lang="fr"><term>Néphrocarcinome</term><term>Tumeurs du rein</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><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse sur puce à tissus</term><term>Erreurs innées du métabolisme</term><term>Femelle</term><term>Humains</term><term>Hypotonie musculaire</term><term>Immunohistochimie</term><term>Jeune adulte</term><term>Mutation germinale</term><term>Mâle</term><term>Sujet âgé</term><term>Troubles psychomoteurs</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><affiliations><list><country><li>Australie</li></country><region><li>Alberta</li></region><settlement><li>Calgary</li></settlement><orgName><li>Université de Calgary</li></orgName></list><tree><noCountry><name sortKey="Agaimy, Abbas" sort="Agaimy, Abbas" uniqKey="Agaimy A" first="Abbas" last="Agaimy">Abbas Agaimy</name><name sortKey="Berney, Daniel M" sort="Berney, Daniel M" uniqKey="Berney D" first="Daniel M" last="Berney">Daniel M. Berney</name><name sortKey="Bonert, Michael" sort="Bonert, Michael" uniqKey="Bonert M" first="Michael" last="Bonert">Michael Bonert</name><name sortKey="Brimo, Fadi" sort="Brimo, Fadi" uniqKey="Brimo F" first="Fadi" last="Brimo">Fadi Brimo</name><name sortKey="Comperat, Eva" sort="Comperat, Eva" uniqKey="Comperat E" first="Eva" last="Compérat">Eva Compérat</name><name sortKey="Frizzell, Norma" sort="Frizzell, Norma" uniqKey="Frizzell N" first="Norma" last="Frizzell">Norma Frizzell</name><name sortKey="Gill, Anthony J" sort="Gill, Anthony J" uniqKey="Gill A" first="Anthony J" last="Gill">Anthony J. Gill</name><name sortKey="Hartmann, Arndt" sort="Hartmann, Arndt" uniqKey="Hartmann A" first="Arndt" last="Hartmann">Arndt Hartmann</name><name sortKey="Hes, Ondrej" sort="Hes, Ondrej" uniqKey="Hes O" first="Ondrej" last="Hes">Ondrej Hes</name><name sortKey="Hills, Kirsten" sort="Hills, Kirsten" uniqKey="Hills K" first="Kirsten" last="Hills">Kirsten Hills</name><name sortKey="Husain, Arjumand" sort="Husain, Arjumand" uniqKey="Husain A" first="Arjumand" last="Husain">Arjumand Husain</name><name sortKey="Kristiansen, Glen" sort="Kristiansen, Glen" uniqKey="Kristiansen G" first="Glen" last="Kristiansen">Glen Kristiansen</name><name sortKey="Luders, Christine" sort="Luders, Christine" uniqKey="Luders C" first="Christine" last="Lüders">Christine Lüders</name><name sortKey="Maclean, Fiona" sort="Maclean, Fiona" uniqKey="Maclean F" first="Fiona" last="Maclean">Fiona Maclean</name><name sortKey="Magi Galluzzi, Cristina" sort="Magi Galluzzi, Cristina" uniqKey="Magi Galluzzi C" first="Cristina" last="Magi-Galluzzi">Cristina Magi-Galluzzi</name><name sortKey="Martinek, Petr" sort="Martinek, Petr" uniqKey="Martinek P" first="Petr" last="Martinek">Petr Martinek</name><name sortKey="Mehra, Rohit" sort="Mehra, Rohit" uniqKey="Mehra R" first="Rohit" last="Mehra">Rohit Mehra</name><name sortKey="Nesi, Gabriella" sort="Nesi, Gabriella" uniqKey="Nesi G" first="Gabriella" last="Nesi">Gabriella Nesi</name><name sortKey="Sibony, Mathilde" sort="Sibony, Mathilde" uniqKey="Sibony M" first="Mathilde" last="Sibony">Mathilde Sibony</name><name sortKey="Srinivasan, Bhuvana" sort="Srinivasan, Bhuvana" uniqKey="Srinivasan B" first="Bhuvana" last="Srinivasan">Bhuvana Srinivasan</name></noCountry><country name="Australie"><region name="Alberta"><name sortKey="Trpkov, Kiril" sort="Trpkov, Kiril" uniqKey="Trpkov K" first="Kiril" last="Trpkov">Kiril Trpkov</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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