Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics

[1]  L. Hoefsloot,et al.  Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis , 2011, Clinical genetics.

[2]  Elizabeth,et al.  Hereditary Kidney Cancer: Unique Opportunity for Disease- Based Therapy , 2011 .

[3]  Ian Tomlinson,et al.  Molecular and Cellular Pathobiology Expression Profiling in Progressive Stages of Fumarate- Hydratase Deficiency: the Contribution of Metabolic Changes to Tumorigenesis , 2022 .

[4]  P. Mandich,et al.  A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome) , 2010, Dermatology.

[5]  W. Linehan,et al.  Increasing reactive oxygen species as a therapeutic approach to treat hereditary leiomyomatosis and renal cell carcinoma , 2010, Cell cycle.

[6]  K. Clarke,et al.  Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. , 2010, Human molecular genetics.

[7]  P. Driggers,et al.  Novel, orally active selective progesterone receptor modulator CP8947 inhibits leiomyoma cell proliferation without adversely affecting endometrium or myometrium , 2010, The Journal of Steroid Biochemistry and Molecular Biology.

[8]  P. Carmeliet,et al.  Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis , 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[9]  W. Linehan,et al.  Oncological outcomes of partial nephrectomy for multifocal renal cell carcinoma greater than 4 cm. , 2010, The Journal of urology.

[10]  Taru A. Koski.  Molecular Genetic Background of Tumours in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome , 2010 .

[11]  P. Devilee,et al.  Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree? , 2010, Current opinion in genetics & development.

[12]  M. Frey,et al.  A case report of hereditary leiomyomatosis and renal cell cancer. , 2010, American journal of obstetrics and gynecology.

[13]  W. Linehan,et al.  Targeted therapies for non-clear renal cell carcinoma , 2010, Targeted Oncology.

[14]  W. Linehan,et al.  367 EVALUATION OF THE VEGF-VEGF RECEPTOR AXIS IN HEREDITARY LEIOMYOMATOSIS RENAL CELL CARCINOMA (HLRCC) KIDNEY TUMORS , 2010 .

[15]  K. McKelvey,et al.  Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. , 2010, Fertility and sterility.

[16]  E. Shaulian,et al.  Fumarase: A Mitochondrial Metabolic Enzyme and a Cytosolic/Nuclear Component of the DNA Damage Response , 2010, PLoS biology.

[17]  W. Linehan,et al.  UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. , 2010, Cancer genetics and cytogenetics.

[18]  J. Prat,et al.  Uterine sarcomas: a review. , 2010, Gynecologic Oncology.

[19]  S. Hodgson,et al.  Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient , 2010, Familial Cancer.

[20]  Ignacio Blanco,et al.  No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome , 2010, Familial Cancer.

[21]  E. Gottlieb,et al.  Reactivating HIF prolyl hydroxylases under hypoxia results in metabolic catastrophe and cell death , 2009, Oncogene.

[22]  Steven P. Gygi,et al.  SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma , 2009, Science.

[23]  Kristiina Aittomäki,et al.  Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer , 2009, Genes, chromosomes & cancer.

[24]  W. Linehan,et al.  Fumarate Hydratase Deficiency in Renal Cancer Induces Glycolytic Addiction and Hypoxia-Inducible Transcription Factor 1α Stabilization by Glucose-Dependent Generation of Reactive Oxygen Species , 2009, Molecular and Cellular Biology.

[25]  D. Olive,et al.  Fibroids and infertility: an updated systematic review of the evidence. , 2009, Fertility and sterility.

[26]  P. Steijlen,et al.  Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? , 2009, The British journal of dermatology.

[27]  W. Linehan,et al.  LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer , 2009, Molecular Cancer Therapeutics.

[28]  F. Ducray,et al.  IDH1 and IDH2 mutations in gliomas. , 2009, The New England journal of medicine.

[29]  W. Linehan,et al.  Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. , 2008, Archives of dermatology.

[30]  J. Frank,et al.  Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer , 2008, International journal of dermatology.

[31]  Stephen B Gruber,et al.  Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. , 2008, Cancer genetics and cytogenetics.

[32]  R. Lapatto,et al.  Differential metabolic consequences of fumarate hydratase and respiratory chain defects. , 2008, Biochimica et biophysica acta.

[33]  H. Lehtonen,et al.  MOLECULAR AND CLINICAL CHARACTERISTICS OF TRICARBOXYLIC ACID CYCLE-ASSOCIATED TUMORS , 2008 .

[34]  W. Kaelin.  Faculty Opinions recommendation of Cell-permeating alpha-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells. , 2008 .

[35]  P. Rustin,et al.  A cancer‐predisposing “hot spot” mutation of the fumarase gene creates a dominant negative protein , 2008, International journal of cancer.

[36]  Jean-Pierre Bayley,et al.  The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency , 2008, BMC Medical Genetics.

[37]  M. Merino,et al.  The Morphologic Spectrum of Kidney Tumors in Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome , 2007, The American journal of surgical pathology.

[38]  W. Linehan,et al.  Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. , 2007, Fertility and sterility.

[39]  Jonathan Pevsner,et al.  HIF-dependent antitumorigenic effect of antioxidants in vivo. , 2007, Cancer cell.

[40]  F. Garaci,et al.  Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene. , 2007, The Journal of investigative dermatology.

[41]  W. Parker.  Uterine myomas: management. , 2007, Fertility and sterility.

[42]  R. Gillies,et al.  Adaptive landscapes and emergent phenotypes: why do cancers have high glycolysis? , 2007, Journal of bioenergetics and biomembranes.

[43]  A. Mobasheri,et al.  Hypoxic Regulation of Glucose Transport, Anaerobic Metabolism and Angiogenesis in Cancer: Novel Pathways and Targets for Anticancer Therapeutics , 2007, Chemotherapy.

[44]  P. Choyke,et al.  Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. , 2007, The Journal of urology.

[45]  Ignacio Blanco,et al.  Conventional renal cancer in a patient with fumarate hydratase mutation. , 2007, Human pathology.

[46]  Alison Martin,et al.  Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. , 2007, Cancer cell.

[47]  L. Bégin,et al.  Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma , 2007, Nature Clinical Practice Oncology.

[48]  I. Hassinen,et al.  Inhibition of Hypoxia-inducible Factor (HIF) Hydroxylases by Citric Acid Cycle Intermediates , 2007, Journal of Biological Chemistry.

[49]  M. Celeste Simon,et al.  Multiple Factors Affecting Cellular Redox Status and Energy Metabolism Modulate Hypoxia-Inducible Factor Prolyl Hydroxylase Activity In Vivo and In Vitro , 2006, Molecular and Cellular Biology.

[50]  T. Roscioli,et al.  The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation , 2006, The Australasian journal of dermatology.

[51]  I. Tomlinson,et al.  Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma. , 2006, Fertility and sterility.

[52]  P. Steijlen,et al.  Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature , 2006, Experimental dermatology.

[53]  M. Tesařová,et al.  Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations , 2006, Journal of Inherited Metabolic Disease.

[54]  D. Berney,et al.  Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. , 2006, The Journal of clinical endocrinology and metabolism.

[55]  Eero Pukkala,et al.  Analysis of fumarate hydratase mutations in a population‐based series of early onset uterine leiomyosarcoma patients , 2006, International journal of cancer.

[56]  Rainer Lehtonen,et al.  Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma , 2006, European Journal of Human Genetics.

[57]  C. Thompson,et al.  Cancer's sweet tooth. , 2006, Cancer cell.

[58]  A. Schulze,et al.  Molecular and biochemical investigations in fumarase deficiency. , 2006, Molecular genetics and metabolism.

[59]  A. Martinez-Mir,et al.  Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene , 2006, Clinical and experimental dermatology.

[60]  Kristiina Aittomäki,et al.  Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. , 2006, Human molecular genetics.

[61]  S. Verma,et al.  Multiple Cutaneous and Uterine Leiomyomas Associated with Gastric Gist , 2005, Journal of cutaneous medicine and surgery.

[62]  R. Kruse,et al.  Type 2 Segmental Manifestation of Cutaneous Leiomyomatosis in Four Unrelated Women with Additional Uterine Leiomyomas (Reed’s Syndrome) , 2005, Dermatology.

[63]  Eyal Gottlieb,et al.  Mitochondrial tumour suppressors: a genetic and biochemical update , 2005, Nature Reviews Cancer.

[64]  L. Aaltonen,et al.  Increased risk of cancer in patients with fumarate hydratase germline mutation , 2005, Journal of Medical Genetics.

[65]  J R Griffiths,et al.  Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. , 2005, Human molecular genetics.

[66]  J. Aragonés,et al.  Activation of HIF-prolyl Hydroxylases by R59949, an Inhibitor of the Diacylglycerol Kinase* , 2005, Journal of Biological Chemistry.

[67]  P. Choyke,et al.  Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer , 2005, Journal of Medical Genetics.

[68]  W. Linehan,et al.  Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. , 2005, The Journal of clinical endocrinology and metabolism.

[69]  Yuen-Li Chung,et al.  HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. , 2005, Cancer cell.

[70]  Heli Nevanlinna,et al.  No germline FH mutations in familial breast cancer patients , 2005, European Journal of Human Genetics.

[71]  B. Glaser,et al.  Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. , 2005, Journal of the American Academy of Dermatology.

[72]  A. Rowan,et al.  Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. , 2005, Archives of dermatology.

[73]  R. Walker,et al.  World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of the Breast and Female Genital Organs , 2005 .

[74]  R. Poulsom,et al.  Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome , 2005, The Journal of pathology.

[75]  J. McGrath,et al.  Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer , 2005, Clinical and experimental dermatology.

[76]  David G. Watson,et al.  Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. , 2005, Cancer cell.

[77]  Majid Ali.  Oxygen Homeostasis , 2005 .

[78]  T. Chan.  World Health Organization classification of tumours: Pathology & genetics of tumours of the urinary system and male genital organs , 2005 .

[79]  Eyal Gottlieb,et al.  Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. , 2005, Cancer cell.

[80]  I. Sesterhenn,et al.  World health organization classifications of tumours. pathology and genetics of tumours of the urinary system and male genital organs , 2005 .

[81]  V. Launonen,et al.  Hereditary leiomyomatosis and renal cell cancer (HLRCC). , 2004, Current molecular medicine.

[82]  C. Panhuysen,et al.  Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: Genetic linkage analysis and FISH studies , 2004, Genes, chromosomes & cancer.

[83]  E. Wall,et al.  The role of hypoxia inducible factor 1 (HIF-1) in hypoxia induced apoptosis , 2004, Journal of Clinical Pathology.

[84]  L. Schmidt,et al.  Searching for the hereditary causes of renal-cell carcinoma , 2004, Nature Reviews Cancer.

[85]  E. Lamantea,et al.  Fumarate hydratase deficiency , 1998, Journal of Inherited Metabolic Disease.

[86]  Ian Craig,et al.  Presence of two forms of fumarase (fumarate hydratase E.C. 4.2.1.2) in mammalian cells: Immunological characterization and genetic analysis in somatic cell hybrids. Confirmation of the assignment of a gene necessary for the enzyme expression to human chromosome 1 , 1975, Biochemical Genetics.

[87]  L. Aaltonen,et al.  Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. , 2004, The American journal of pathology.

[88]  O. Pines,et al.  Folding of Fumarase during Mitochondrial Import Determines its Dual Targeting in Yeast* , 2003, Journal of Biological Chemistry.

[89]  J. Murchison,et al.  The prevalence of simple renal and hepatic cysts detected by spiral computed tomography. , 2003, Clinical radiology.

[90]  P. Choyke,et al.  Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. , 2003, American journal of human genetics.

[91]  N P Burrows,et al.  Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. , 2003, Human molecular genetics.

[92]  D. Dixon,et al.  Etiology and pathogenesis of uterine leiomyomas: a review. , 2003, Environmental health perspectives.

[93]  D. Schaid,et al.  No fumarate hydratase (FH) mutations in hereditary prostate cancer , 2003, Journal of medical genetics.

[94]  R. Eeles,et al.  Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer , 2003, Prostate Cancer and Prostatic Diseases.

[95]  B. Delahunt,et al.  Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. , 2002, Cancer research.

[96]  R. Houlston,et al.  Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas , 2002, British Journal of Cancer.

[97]  Charles C Wykoff,et al.  HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. , 2002, Cancer cell.

[98]  A. Paetau,et al.  Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer , 2002, Nature Genetics.

[99]  N. Terada,et al.  The natural history of simple renal cysts. , 2002, The Journal of urology.

[100]  L. Aaltonen,et al.  Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. , 2001, The American journal of pathology.

[101]  R. Houlston,et al.  Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. , 2001, American journal of human genetics.

[102]  L. Aaltonen,et al.  Inherited susceptibility to uterine leiomyomas and renal cell cancer , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[103]  B. Delahunt,et al.  Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. , 1997, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

[104]  A. Patel,et al.  The frequency of uterine leiomyomas. , 1990, American journal of clinical pathology.

[105]  B. Robinson,et al.  Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. , 1987, American journal of human genetics.

[106]  B. Kinsella,et al.  Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver , 1986, Bioscience reports.

[107]  D. Kerr,et al.  Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. , 1986, The New England journal of medicine.

[108]  W. Reed,et al.  Cutaneous leiomyomata with uterine leiomyomata. , 1973, Acta dermato-venereologica.

[109]  M. Karno,et al.  Renal cell carcinoma. , 1956, Bulletin. Tufts-New England Medical Center.

[110]  O. Warburg,et al.  THE METABOLISM OF TUMORS IN THE BODY , 1927, The Journal of general physiology.