Works matching Hereditary leiomyomatosis and renal cell cancer

Results: 176

Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings.

Published in:

International Journal of Urology, 2018, v. 25, n. 9, p. 832, doi. 10.1111/iju.13760

By:

Noguchi, Go;
Kishida, Takeshi;
Furuya, Mitsuko;
Kato, Ikuma;
Matsumoto, Kana;
Okubo, Yoichiro;
Nagashima, Yoji;
Tanaka, Reiko;
Hisasue, Shin‐ichi;
Yao, Masahiro

Publication type:

Article

Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1).

Published in:

Biochemical Society Transactions, 2015, v. 43, n. 4, p. 650, doi. 10.1042/BST20150041

By:

Sandhu, Ivraj Singh;
Maksim, Nicholas James;
Amouzougan, Eva Alice;
Gallion, Bryce Wilson;
Raviele, Anthony L. J.;
Ooi, Aikseng

Publication type:

Article

Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).

Published in:

Virchows Archiv: European Journal of Pathology, 2015, v. 467, n. 2, p. 185, doi. 10.1007/s00428-015-1783-y

By:

Martínek, Petr;
Grossmann, Petr;
Hes, Ondřej;
Bouda, Jiří;
Eret, Viktor;
Frizzell, Norma;
Gill, Anthony;
Ondič, Ondrej

Publication type:

Article

Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

Published in:

Case Reports in Urology, 2015, v. 2015, p. 1, doi. 10.1155/2015/303872

By:

Ristau, Benjamin T.;
Kamat, Sonal N.;
Tarin, Tatum V.

Publication type:

Article

Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88585-x

By:

Bateman, Nicholas W.;
Tarney, Christopher M.;
Abulez, Tamara;
Soltis, Anthony R.;
Zhou, Ming;
Conrads, Kelly;
Litzi, Tracy;
Oliver, Julie;
Hood, Brian;
Driggers, Paul;
Viollet, Coralie;
Dalgard, Clifton;
Wilkerson, Matthew;
Catherino, William;
Hamilton, Chad A.;
Darcy, Kathleen M.;
Casablanca, Yovanni;
Al-Hendy, Ayman;
Segars, James;
Conrads, Thomas P.

Publication type:

Article

Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

Published in:

Journal of Dermatological Case Reports, 2016, v. 10, n. 3, p. 53, doi. 10.3315/jdcr.2016.1234

By:

Sommer, Lacy L.;
Schnur, Rhonda E.;
Heymann, Warren R.

Publication type:

Article

Hereditary leiomyomatosis and renal cell cancer syndrome.

Published in:

2016

By:

Tulandi, Togas;
Foulkes, William D.

Publication type:

journal article

Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.

Published in:

2018

By:

Chaucer, Benjamin;
Stone, Abriella;
Demanes, Augustus;
Seibert, Shawn M.

Publication type:

Case Study

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Published in:

Clinical Genetics, 2011, v. 79, n. 1, p. 49, doi. 10.1111/j.1399-0004.2010.01486.x

By:

Smit, D. L.;
Mensenkamp, A. R.;
Badeloe, S.;
Breuning, M. H.;
Simon, M. E. H.;
Van Spaendonck, K. Y.;
Aalfs, C. M.;
Post, J. G.;
Shanley, S.;
Krapels, I. P. C.;
Hoefsloot, L. H.;
Van Moorselaar, R. J. A.;
Starink, T. M.;
Bayley, J.-P.;
Frank, J.;
Van Steensel, M. A. M.;
Menko, F. H.

Publication type:

Article

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

Published in:

British Journal of Dermatology, 2009, v. 160, n. 3, p. 707, doi. 10.1111/j.1365-2133.2008.09000.x

By:

Badeloe, S.;
van Spaendonck-Zwarts, K. Y.;
van Steensel, M. A. M.;
van Marion, A. M. W.;
van Essen, A. J.;
Jonkman, M. F.;
Steijlen, P. M.;
Poblete-Gutiérrez, P.;
van Geel, M.;
Frank, J.

Publication type:

Article

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 11, p. 2066, doi. 10.1111/aogs.14248

By:

Uimari, Outi;
Ahtikoski, Anne;
Kämpjärvi, Kati;
Butzow, Ralf;
Järvelä, Ilkka Y.;
Ryynänen, Markku;
Aaltonen, Lauri A.;
Vahteristo, Pia;
Kuismin, Outi

Publication type:

Article

Sequential therapy for hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma: a case report and report of a new family pedigree.

Published in:

Oxford Medical Case Reports, 2024, v. 2024, n. 8, p. 1, doi. 10.1093/omcr/omae060

By:

Tsuboi, Ichiro;
Araki, Momoko;
Yokoyama, Shuhei;
Tanaka, Gen;
Mitani, Kazutaka;
Yosioka, Saori;
Kobayashi, Yusuke;
Nakajima, Hirochika;
Nagami, Taichi;
Ogawa, Kohei;
Koike, Chiaki;
Wada, Koichiro

Publication type:

Article

Protein Profiling of Blood Samples from Patients with Hereditary Leiomyomatosis and Renal Cell Cancer by Surface-Enhanced Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.

Published in:

International Journal of Molecular Sciences, 2012, v. 13, n. 11, p. 14518, doi. 10.3390/ijms131114518

By:

Kamai, Takao;
Tomosugi, Naohisa;
Abe, Hideyuki;
Kaji, Yasushi;
Oyama, Tetsunari;
Yoshida, Ken-Ichiro

Publication type:

Article

MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas.

Published in:

Human Reproduction Open, 2018, v. 2018, n. 4, p. 1, doi. 10.1093/hropen/hoy020

By:

Heikkinen, Tuomas;
Äyräväinen, Anna;
Hänninen, Janne;
Ahvenainen, Terhi;
Bützow, Ralf;
Pasanen, Annukka;
Vahteristo, Pia

Publication type:

Article

Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.

Published in:

Annals of Laboratory Medicine, 2021, v. 41, n. 2, p. 207, doi. 10.3343/alm.2021.41.2.207

By:

Ja Young Seo;
Jeong-Yeal Ahn;
Bhumsuk Keam;
Miso Kim;
Shinkyo Yoon;
Jae Lyun Lee;
Kwonoh Park;
Inkeun Park

Publication type:

Article

Complete Response of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-Associated Renal Cell Carcinoma to Pembrolizumab Immunotherapy: A Case Report.

Published in:

2021

By:

Wang, Tao;
Huang, Yan;
Huang, Xing;
Lv, Zheng;
Tian, Shuo;
Ma, Xin;
Zhang, Xu

Publication type:

Case Study

Role of ultra-high b-value DWI in the imaging of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

Published in:

Abdominal Radiology, 2023, v. 48, n. 1, p. 340, doi. 10.1007/s00261-022-03689-w

By:

Chaurasia, Aditi;
Gopal, Nikhil;
Dehghani Firouzabadi, Fatemeh;
Yazdian Anari, Pouria;
Wakim, Paul;
Ball, Mark W.;
Jones, Elizabeth C.;
Turkbey, Baris;
Huda, Fahimul;
Linehan, W. Marston;
Turkbey, Evrim B.;
Malayeri, Ashkan A.

Publication type:

Article

Heritable Cancer Syndromes Related to the Hypoxia Pathway.

Published in:

Frontiers in Oncology, 2016, p. 1, doi. 10.3389/fonc.2016.00068

By:

Henegan Jr., John Clark;
Gomez, Christian R.

Publication type:

Article

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3135, doi. 10.1093/hmg/ddad131

By:

Crooks, Daniel R;
Cawthon, Geetha Mariah;
Fitzsimmons, Christina M;
Perez, Minervo;
Ricketts, Christopher J;
Vocke, Cathy D;
Yang, Ye;
Middelton, Lindsay;
Nielsen, Debbie;
Schmidt, Laura S;
Tandon, Mayank;
Merino, Maria J;
Ball, Mark W;
Meier, Jordan L;
Batista, Pedro J;
Linehan, William Marston

Publication type:

Article

A Missense Mutation c.1132G > A in Fumarate Hydratase (FH) Leads to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome and Insights into Clinical Management in Uterine Leiomyomata.

Published in:

Genes, 2023, v. 14, n. 3, p. 744, doi. 10.3390/genes14030744

By:

Shi, Yue;
Xu, Yan;
Wang, Chao;
Chen, Yiqing;
Ren, Xiaojun;
Kang, Yu

Publication type:

Article

Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.

Published in:

2016

By:

Takao Kamai;
Hideyuki Abe;
Kyoko Arai;
Satoshi Murakami;
Setsu Sakamoto;
Yasushi Kaji;
Ken-Ichiro Yoshida;
Kamai, Takao;
Abe, Hideyuki;
Arai, Kyoko;
Murakami, Satoshi;
Sakamoto, Setsu;
Kaji, Yasushi;
Yoshida, Ken-Ichiro

Publication type:

journal article

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Published in:

Cancers, 2020, v. 12, n. 11, p. 3277, doi. 10.3390/cancers12113277

By:

Sánchez-Heras, A. Beatriz;
Castillejo, Adela;
García-Díaz, Juan D.;
Robledo, Mercedes;
Teulé, Alexandre;
Sánchez, Rosario;
Zúñiga, Ángel;
Lastra, Enrique;
Durán, Mercedes;
Llort, Gemma;
Yagüe, Carmen;
Ramon y Cajal, Teresa;
López San Martin, Consol;
López-Fernández, Adrià;
Balmaña, Judith;
Robles, Luis;
Mesa-Latorre, José M.;
Chirivella, Isabel;
Fonfria, María;
Perea Ibañez, Raquel

Publication type:

Article

Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer.

Published in:

Diagnostics (2075-4418), 2024, v. 14, n. 12, p. 1279, doi. 10.3390/diagnostics14121279

By:

Nagashima, Akari;
Morimura, Sohshi;
Hamada, Toshihisa;
Shiomi, Takayuki;
Mori, Ichiro;
Sato, Naoko;
Nomoto, Junko;
Tanaka, Masaki;
Tsuji, Shoji;
Sugaya, Makoto

Publication type:

Article

Hereditary Leiomyomatosis and Renal Cell Cancer.

Published in:

Acta Dermato-Venereologica, 2020, v. 100, n. 1, p. 1, doi. 10.2340/00015555-3366

By:

HANSEN, Anders Würgler;
CHAYED, Zahraa;
PALLESEN, Kristine;
CODRUTA VASILESCU, Ileana;
BYGUM, Anette

Publication type:

Article

Bristol Cup Posters.

Published in:: 2013
Publication type:: Abstract

Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives.

Published in:

Journal of Kidney Cancer & VHL, 2022, v. 9, n. 2, p. 27, doi. 10.15586/jkcvhl.v9i2.222

By:

Tavares, Catarina;
Quental, Maria Sofia;
Ricardo Brandão, José;
Silva-Ramos, Miguel

Publication type:

Article

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Published in:

2022

By:

Franke, Keith;
Vagher, Jennie;
Boyle, Julie;
Hall, April;
Smith‐Simmer, Kelcy

Publication type:

Case Study

Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature.

Published in:

Urology Annals, 2018, v. 10, n. 1, p. 108, doi. 10.4103/UA.UA_95_17

By:

Natália, Ferreira;
Tiago, Oliveira;
Pedro, Oliveira;
Sandro, Gaspar

Publication type:

Article

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01957-w

By:

Gao, Fangfang;
Gu, Dejian;
Zhang, He;
Shi, Chao;
Du, Feng;
Zheng, Bo;
Wu, Huijuan;
Zhao, Yanqiu

Publication type:

Article

Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.

Published in:

Pathology & Oncology Research, 2025, p. 01, doi. 10.3389/pore.2025.1612086

By:

Kárteszi, Judit;
Nagy, Nikoletta;
Széll, Márta;
Lengyel, Zsuzsanna;
Semjén, Dávid;
Egyházi, Zsolt;
Bajzik, Gábor;
Kuthi, Levente;
Pusztai, Csaba;
Battyáni, Zita

Publication type:

Article

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.

Published in:

Australasian Journal of Dermatology, 2006, v. 47, n. 4, p. 274, doi. 10.1111/j.1440-0960.2006.00294.x

By:

Varol, Alexandra;
Stapleton, Karen;
Roscioli, Tony

Publication type:

Article

Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC.

Published in:

2016

By:

Bell, Robert C.;
Austin, Evan T.;
Arnold, Stacy J.;
Lin, Frank C.;
Walker, Jonathan R.;
Larsen, Brandon T.

Publication type:

Case Study

Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer.

Published in:

2006

By:

Stewart L;
Glenn G;
Toro JR

Publication type:

Journal Article

Cutaneous Leiomyomas: A Clinical Marker Of Risk for Hereditary Leiomyomatosis And Renal Cell Cancer.

Published in:

Dermatology Nursing, 2006, v. 18, n. 4, p. 335

By:

Stewart, Laveta;
Glenn, Gladys;
Toro, Jorge R.

Publication type:

Article

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03017-z

By:

Sánchez-Heras, Ana Beatriz;
Dámaso, Estela;
Castillejo, Adela;
Robledo, Mercedes;
Teulé, Alexandre;
Lázaro, Conxi;
Sánchez-Martínez, Rosario;
Zúñiga, Ángel;
López-Fernández, Adrià;
Balmaña, Judith;
Robles, Luis;
Ramon y Cajal, Teresa;
Castillejo, M. Isabel;
Ibañez, Raquel Perea;
Sevila, Carmen Martínez;
Sánchez-Mira, Andrea;
Escandell, Inés;
Gómez, Luís;
Berbel, Pere;
Soto, José Luis

Publication type:

Article

Abstracts.

Published in:: BJU International, 2015, v. 116, p. 1, doi. 10.1111/bju.13339
Publication type:: Article

Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1293

By:

Breen, Kelsey E.;
Carlo, Maria I.;
Kemel, Yelena;
Maio, Anna;
Chen, Ying‐Bei;
Zhang, Liying;
Ceyhan‐Birsoy, Ozge;
Mandelker, Diana

Publication type:

Article

Papules on the arms and renal cell carcinoma.

Published in:

Clinical & Experimental Dermatology, 2017, v. 42, n. 7, p. 806, doi. 10.1111/ced.13194

By:

Romero ‐ Pérez, D.;
Encabo ‐ Durán, B.;
Blanes ‐ Martínez, M.;
Niverio ‐ de Jaime, M.

Publication type:

Article

Image Gallery: Segmental cutaneous leiomyomas in a patient with Reed syndrome.

Published in:

British Journal of Dermatology, 2016, v. 175, n. 4, p. e123, doi. 10.1111/bjd.14851

By:

Russo, T.;
Piccolo, V.;
Staibano, S.;
Alfano, R.;
Mascolo, M.;
Argenziano, G.

Publication type:

Article

Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family.

Published in:

British Journal of Dermatology, 2015, v. 172, n. 5, p. 1442, doi. 10.1111/bjd.13504

By:

España, A.;
Ornilla, E.;
Zarate, R.;
Gil‐Bazo, I.;
Briones, P.

Publication type:

Article

Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy.

Published in:

2016

By:

Basendwh, Mohammad a.;
Fatani, Mohammad;
Baltow, Badee

Publication type:

Case Study

Intravenous leiomyomatosis with intracardiac extension.

Published in:: 2018
Publication type:: Case Study

Fumarate Hydratase is a Novel Gene for Familial Non-Medullary Thyroid Cancer.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. 2539, doi. 10.1210/clinem/dgac386

By:

Alzahrani, Ali S.;
Alswailem, Meshael;
Alghamdi, Balgees;
Al-Hindi, Hindi

Publication type:

Article

Massive pelvic recurrence of uterine leiomyomatosis with intracaval-intracardiac extension: video case report and literature review.

Published in:

2017

By:

Gissey, Lidia Castagneto;
Mariano, Germano;
Musleh, Layla;
Lepiane, Pasquale;
Colasanti, Marco;
Meniconi, Roberto L.;
Ranocchi, Federico;
Musumeci, Francesco;
Antonini, Mario;
Ettorre, Giuseppe M.;
Castagneto Gissey, Lidia

Publication type:

journal article

Hereditary leiomyomatosis and renal cell carcinoma syndrome.

Published in:

2015

By:

Chinniah, Nira;
Lowe, Patricia

Publication type:

Case Study

Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.

Published in:

Familial Cancer, 2021, v. 20, n. 1, p. 75, doi. 10.1007/s10689-020-00195-0

By:

Iribe, Yasuhiro;
Furuya, Mitsuko;
Shibata, Yousuke;
Yasui, Masato;
Funahashi, Makoto;
Ota, Junichi;
Iwashita, Hiromichi;
Nagashima, Yoji;
Hasumi, Hisashi;
Hayashi, Narihiko;
Makiyama, Kazuhide;
Kondo, Keiichi;
Tanaka, Reiko;
Yao, Masahiro;
Nakaigawa, Noboru

Publication type:

Article

Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.

Published in:

Familial Cancer, 2019, v. 18, n. 1, p. 91, doi. 10.1007/s10689-018-0081-7

By:

Dow, Eryn;
Winship, Ingrid M.

Publication type:

Article

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Published in:

Familial Cancer, 2018, v. 17, n. 4, p. 615, doi. 10.1007/s10689-018-0076-4

By:

Bhola, Priya T.;
Gilpin, Cathy;
Smith, Amanda;
Graham, Gail E.

Publication type:

Article

Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation.

Published in:

Familial Cancer, 2018, v. 17, n. 4, p. 587, doi. 10.1007/s10689-017-0068-9

By:

Arenas Valencia, Carolina;
Lopez Kleine, Liliana;
Pinzon Velasco, Andres M.;
Cardona Barreto, Andrea Y.;
Arteaga Diaz, Clara E.

Publication type:

Article

Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family.

Published in:

Familial Cancer, 2017, v. 16, n. 1, p. 117, doi. 10.1007/s10689-016-9922-4

By:

Arenas Valencia, Carolina;
Rodríguez López, Martha;
Cardona Barreto, Andrea;
Garavito Rodríguez, Edgar;
Arteaga Díaz, Clara

Publication type:

Article