The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms

A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma

(2017) Steven C Smith et al.   HISTOPATHOLOGY

Recurrent IDH2 R172X mutations in sinonasal undifferentiated carcinoma

(2017) Vickie Y Jo et al.   MODERN PATHOLOGY

Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

(2016) Mar Llamas-Velasco et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors

(2016) Emily F. Mason et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Fumarase-deficient Uterine Leiomyomas

(2016) Markku Miettinen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), fumarate hydratase (FH): three players for one phenotype in cancer?

(2016) G. Laurenti et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Isocitrate dehydrogenase mutations in myeloid malignancies

(2016) B C Medeiros et al.   LEUKEMIA

Molecular Subtypes ofKIT/PDGFRAWild-Type Gastrointestinal Stromal Tumors

(2016) Sosipatros A. Boikos et al.   JAMA Oncology

Characteristics, clinical outcome, and prognostic significance of IDH mutations in AML

(2015) Courtney D. DiNardo et al.   AMERICAN JOURNAL OF HEMATOLOGY

Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients

(2015) Nancy M. Joseph et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

A high-sensitive HMab-2 specifically detects IDH1-R132H, the most common IDH mutation in gliomas

(2015) Yuki Fujii et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1–5

(2015) Diana E Benn et al.   ENDOCRINE-RELATED CANCER

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

(2015) Sosipatros A Boikos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Periosteal chondrosarcoma: a histopathological and molecular analysis of a rare chondrosarcoma subtype

(2015) Arjen H G Cleven et al.   HISTOPATHOLOGY

Prognosis and Clinicopathologic Features of Patients With Advanced Stage Isocitrate Dehydrogenase (IDH) Mutant and IDH Wild-Type Intrahepatic Cholangiocarcinoma

(2015) L. Goyal et al.   ONCOLOGIST

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

(2015) Luyuan Li et al.   PLoS One

Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes

(2015) Yonghui Jin et al.   PLoS One

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

(2014) Florian Haller et al.   ENDOCRINE-RELATED CANCER

Unique mutation portraits and frequentCOL2A1gene alteration in chondrosarcoma

(2014) Yasushi Totoki et al.   GENOME RESEARCH

GermlineFHMutations Presenting With Pheochromocytoma

(2014) Graeme R. Clark et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma

(2014) Sean R Williamson et al.   MODERN PATHOLOGY

Recurrent epimutation of SDHC in gastrointestinal stromal tumors

(2014) J. K. Killian et al.   Science Translational Medicine

R132C IDH1 Mutations Are Found in Spindle Cell Hemangiomas and Not in Other Vascular Tumors or Malformations

(2013) Kyle C. Kurek et al.   AMERICAN JOURNAL OF PATHOLOGY

Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation

(2013) Markku Miettinen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

(2013) Eric Letouzé et al.   CANCER CELL

Citric Acid Cycle and Role of its Intermediates in Metabolism

(2013) Muhammad Akram   CELL BIOCHEMISTRY AND BIOPHYSICS

Molecular Pathways: Fumarate Hydratase-Deficient Kidney Cancer--Targeting the Warburg Effect in Cancer

(2013) W. M. Linehan et al.   CLINICAL CANCER RESEARCH

Functional Profiling of Receptor Tyrosine Kinases and Downstream Signaling in Human Chondrosarcomas Identifies Pathways for Rational Targeted Therapy

(2013) Y.-X. Zhang et al.   CLINICAL CANCER RESEARCH

Aerobic glycolysis: a novel target in kidney cancer

(2013) Brian Shuch et al.   Expert Review of Anticancer Therapy

What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer

(2013) J.-A. Losman et al.   GENES & DEVELOPMENT

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

(2013) Luis Jaime Castro-Vega et al.   HUMAN MOLECULAR GENETICS

Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethylcytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis

(2013) Emily F Mason et al.   MODERN PATHOLOGY

Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry

(2013) Carolina Reyes et al.   MODERN PATHOLOGY

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

(2013) Patrick S Tarpey et al.   NATURE GENETICS

High-Throughput Screening for Growth Inhibitors Using a Yeast Model of Familial Paraganglioma

(2013) Irina Bancos et al.   PLoS One

An Inhibitor of Mutant IDH1 Delays Growth and Promotes Differentiation of Glioma Cells

(2013) D. Rohle et al.   SCIENCE

Targeted Inhibition of Mutant IDH2 in Leukemia Cells Induces Cellular Differentiation

(2013) F. Wang et al.   SCIENCE

Succinate Dehydrogenase Mutation Underlies Global Epigenomic Divergence in Gastrointestinal Stromal Tumor

(2013) J. Keith Killian et al.   Cancer Discovery

Inhibition of Mitochondrial Aconitase by Succination in Fumarate Hydratase Deficiency

(2013) Nicola Ternette et al.   Cell Reports

Frequent IDH1/2 mutations in intracranial chondrosarcoma: a possible diagnostic clue for its differentiation from chordoma

(2012) Motohiro Arai et al.   Brain Tumor Pathology

Disruption of Wild-Type IDH1 Suppresses D-2-Hydroxyglutarate Production in IDH1-Mutated Gliomas

(2012) G. Jin et al.   CANCER RESEARCH

Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

(2012) Paraskevi Xekouki et al.   ENDOCRINE-RELATED CANCER

Inhibition of  -KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors

(2012) M. Xiao et al.   GENES & DEVELOPMENT

Links between metabolism and cancer

(2012) C. V. Dang   GENES & DEVELOPMENT

Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study

(2012) Leona A Doyle et al.   HISTOPATHOLOGY

An Update on the Genetics of Paraganglioma, Pheochromocytoma, and Associated Hereditary Syndromes

(2012) A.-P. Gimenez-Roqueplo et al.   HORMONE AND METABOLIC RESEARCH

Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

(2012) Christopher J. Ricketts et al.   JOURNAL OF UROLOGY

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors

(2012) Andrew J Wagner et al.   MODERN PATHOLOGY

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors

(2012) Lindsey Oudijk et al.   MODERN PATHOLOGY

IDH mutation impairs histone demethylation and results in a block to cell differentiation

(2012) Chao Lu et al.   NATURE

Discovery of the First Potent Inhibitors of Mutant IDH1 That Lower Tumor 2-HG in Vivo

(2012) Janeta Popovici-Muller et al.   ACS Medicinal Chemistry Letters

Succinate Dehydrogenase-Deficient GISTs

(2011) Markku Miettinen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases

(2011) Wei Xu et al.   CANCER CELL

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases

(2011) Rasheduzzaman Chowdhury et al.   EMBO REPORTS

IDH1 mutations are not found in cartilaginous tumours other than central and periosteal chondrosarcomas and enchondromas

(2011) Stephen Damato et al.   HISTOPATHOLOGY

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status

(2011) Chiara Bardella et al.   JOURNAL OF PATHOLOGY

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

(2011) M Fernanda Amary et al.   JOURNAL OF PATHOLOGY

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

(2011) M Fernanda Amary et al.   NATURE GENETICS

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

(2011) Twinkal C Pansuriya et al.   NATURE GENETICS

Frequent Mutation of Isocitrate Dehydrogenase (IDH)1 and IDH2 in Cholangiocarcinoma Identified Through Broad-Based Tumor Genotyping

(2011) D. R. Borger et al.   ONCOLOGIST

Incidence, Predictive Factors, and Prognosis of Chondrosarcoma in Patients with Ollier Disease and Maffucci Syndrome: An International Multicenter Study of 161 Patients

(2011) S. H. M. Verdegaal et al.   ONCOLOGIST

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation

(2010) Maria E. Figueroa et al.   CANCER CELL

Structural studies on human 2-oxoglutarate dependent oxygenases

(2010) Michael A McDonough et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

IDH1 and IDH2 Mutations Are Frequent Genetic Alterations in Acute Myeloid Leukemia and Confer Adverse Prognosis in Cytogenetically Normal Acute Myeloid Leukemia With NPM1 Mutation Without FLT3 Internal Tandem Duplication

(2010) Peter Paschka et al.   JOURNAL OF CLINICAL ONCOLOGY

Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations

(2010) Stefan Gross et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Erratum: Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2010) Lenny Dang et al.   NATURE

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

The genetic basis of kidney cancer: a metabolic disease

(2010) W. Marston Linehan et al.   Nature Reviews Urology

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

(2010) K. A. Janeway et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas

(2009) Christian Hartmann et al.   ACTA NEUROPATHOLOGICA

IDH1 Mutations as Molecular Signature and Predictive Factor of Secondary Glioblastomas

(2009) S. Nobusawa et al.   CLINICAL CANCER RESEARCH

Isocitrate Dehydrogenase 1 Codon 132 Mutation Is an Important Prognostic Biomarker in Gliomas

(2009) Marc Sanson et al.   JOURNAL OF CLINICAL ONCOLOGY

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes

(2009) B. Pasini et al.   JOURNAL OF INTERNAL MEDICINE

The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications

(2009) C. A. Stratakis et al.   JOURNAL OF INTERNAL MEDICINE

Inhibition of succinate dehydrogenase dysregulates histone modification in mammalian cells

(2009) Ana M Cervera et al.   Molecular Cancer

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

Central chondrosarcoma progression is associated with pRb pathway alterations: CDK4 down-regulation and p16 overexpression inhibit cell growth in vitro

(2008) Yvonne M. Schrage et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE