Inherited susceptibility to uterine leiomyomas and renal cell cancer

Mutation and cancer: statistical study of retinoblastoma

Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612

Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene

Latif, F., Tory, K., Gnarra, J. R., Yao, M., Duh, F.-M. C., Orcutt, M. L., Stackhouse, T. M., Kuzmin, I., Modi, W. S., Geil, L., et al. (1993) · Science · doi:10.1126/science.8493574 · Cited by 2,971

Parametric and nonparametric linkage analysis: a unified multipoint approach.

Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

Schmidt, L. S., Duh, F.-M. C., Chen, F., Kishida, T., Glenn, G. M., Choyke, P. L., Scherer, S. W., Zhuang, Z., Lubensky, I. A., Dean, M. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-68 · Cited by 1,517

Faster sequential genetic linkage computations.

Cottingham, R. W., Idury, R. M., & Schäffer, A. A. (1993) · Europe PMC (PubMed Central) · Cited by 1,364

Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors.

Delahunt, B., & Eble, J. N. (1997) · PubMed · Cited by 714

Data Quality and Quality Control of a Population-Based Cancer Registry: Experience in Finland

Teppo, L., Pukkala, ­., & Lehtonen, M. (1994) · Acta Oncologica · doi:10.3109/02841869409098430 · Cited by 648

Hereditary Renal-Cell Carcinoma Associated with a Chromosomal Translocation

Cohen, A. J., Li, F. P., Berg, S., Marchetto, D. J., Tsai, S., Jacobs, S. C., & Brown, R. S. (1979) · New England Journal of Medicine · doi:10.1056/nejm197909133011107 · Cited by 643

Tumors of the Kidney, Bladder, and Related Urinary Structures

Murphy, W. M., Grignon, D. J., & Perlman, E. J. (2004) · American Registry of PathologyWashington, DC eBooks · doi:10.55418/1881041883 · Cited by 433

Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.

Yeung, R. S. W., Xiao, G. H., Jin, F., Lee, W. C., Testa, J. R., & Knudson, A. G. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.24.11413 · Cited by 307

A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression

Anderson, W. J., Tsai, H. K., Sholl, L. M., & Hirsch, M. S. (2022) · International Journal of Surgical Pathology · doi:10.1177/10668969221074600 · Cited by 16

Fine-needle aspiration cytology of papillary renal cell carcinoma: The association with concomitant secondary malignancies

Lim, J. C., & Wojcik, E. M. (2006) · Diagnostic Cytopathology · doi:10.1002/dc.20546 · Cited by 16

Non-clear cell renal cell carcinoma, part 1: histology.

Valença, L. B., Hirsch, M. S., Choueiri, T. K., & Harshman, L. C. (2015) · PubMed · Cited by 16

Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma

Kopp, R. P., Stratton, K. L., Glogowski, E., Schrader, K. A., Rau‐Murthy, R., Russo, P., Coleman, J., & Offit, K. (2017) · Cancer · doi:10.1002/cncr.30605 · Cited by 16

Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma

Freifeld, Y. N., Ananthakrishnan, L., & Margulis, V. (2018) · Current Urology Reports · doi:10.1007/s11934-018-0829-5 · Cited by 16

Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer

Catherino, W. H., Mayers, C. M., Mantzouris, T., Armstrong, A. Y., Linehan, W. M., & Segars, J. H. (2007) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.11.198 · Cited by 16

Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature

Yu, Y., Zheng, M., Zhu, W., Zhao, F., Guan, B., Shen, Q., Yang, F., He, Q., & Li, X. (2021) · Urologic Oncology Seminars and Original Investigations · doi:10.1016/j.urolonc.2021.07.026 · Cited by 15

Hereditary renal cell carcinoma: genetics, clinical features, and surgical considerations

Byler, T. K., & Bratslavsky, G. (2014) · World Journal of Urology · doi:10.1007/s00345-014-1287-4 · Cited by 16

Nuevos patrones epidemiológicos y factores de riesgo en cáncer renal

Curado, F. J. A., Campos-Hernández, J. P., Castro, R. P., Carazo, J. L. C., López, J. C. R., Jiménez, F. V., & Tapia, M. J. R. (2009) · Actas Urológicas Españolas · doi:10.1016/s0210-4806(09)74178-6 · Cited by 15

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

Gunnala, V., Pereira, N., Irani, M., Lilienthal, D., Pirog, E. C., Soslow, R. A., Caputo, T. A., Elias, R. T., Kligman, I., & Rosenwaks, Z. (2017) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000423 · Cited by 15

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

Al-Shinnag, M., Fan, H. M., Susman, R., Wakeling, J., Gustafson, S., Wood, S., & Mallett, A. J. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.738822 · Cited by 16

Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas

Kuwada, M., Chihara, Y., Lou, Y., Torimoto, K., Kagebayashi, Y., Tamura, K., Shuin, T., Fujimoto, K., Kuniyasu, H., & Samma, S. (2014) · BMC Research Notes · doi:10.1186/1756-0500-7-203 · Cited by 16

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer

Wheeler, K. C., Warr, D. J., Warsetsky, S. I., & Barmat, L. I. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.09.034 · Cited by 15

Recently Described and Emphasized Entities of Renal Neoplasms

Shen, S. S., Truong, L. D., Ayala, A. G., & Ro, J. Y. (2007) · Archives of Pathology & Laboratory Medicine · doi:10.5858/2007-131-1234-rdaeeo · Cited by 15

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

Bateman, N. W., Tarney, C. M., Abulez, T. S., Soltis, A. R., Zhou, M., Conrads, K. A., Litzi, T. A., Oliver, J., Hood, B. L., Driggers, P. H., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-88585-x · Cited by 14

Hereditary cancer syndromes of the skin

Somoano, B., Niendorf, K. B., & Tsao, H. (2005) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2004.09.012 · Cited by 15

Therapeutic Options for Variant Renal Cancer

Stadler, W. M. (2004) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-040032 · Cited by 15

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

Varol, A., Stapleton, K. M., & Roscioli, T. (2006) · Australasian Journal of Dermatology · doi:10.1111/j.1440-0960.2006.00294.x · Cited by 14

Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma

Kamai, T., Higashi, S., Murakami, S., Arai, K., Namatame, T., Kijima, T., Abe, H., Jamiyan, T., Ishida, K., Shirataki, H., et al. (2021) · Cancer Science · doi:10.1111/cas.14977 · Cited by 15

Cutaneous leiomyosarcoma with myxoid alteration arising in a setting of multiple cutaneous smooth muscle neoplasms

Utikal, J. S., Haus, G., Poenitz, N., Koenen, W., Back, W. E., Dippel, E., Gratchev, A. N., & Goerdt, S. (2006) · Journal of Cutaneous Pathology · doi:10.1111/j.1600-0560.2006.00491.x · Cited by 14

Hereditary kidney cancer

Hwang, J. J., Uchio, E., Linehan, W. M., & Walther, M. M. (2003) · Urologic Clinics of North America · doi:10.1016/s0094-0143(03)00054-5 · Cited by 15

Post-translational Modifications of Fumarase Regulate its Enzyme Activity and Function in Respiration and the DNA Damage Response

Wang, S., Ramamurthy, D., Tan, J., Liu, J., Yip, J., Chua, A., Zhang, Y., Lim, T. K., Lin, Q., Pines, O., et al. (2020) · Journal of Molecular Biology · doi:10.1016/j.jmb.2020.09.021 · Cited by 14

Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing inSaccharomyces cerevisiae

Saatchi, F., & Kirchmaier, A. L. (2019) · Genetics · doi:10.1534/genetics.119.302238 · Cited by 13

Cutaneous Leiomyoma: A Clinical Study of 152 Patients

Marcoval, J., Llobera-Ris, C., Moreno‐Vílchez, C., & Penin, R. M. (2021) · Dermatology · doi:10.1159/000518542 · Cited by 13

Pathology of Renal Cell Carcinoma

Zhou, M., & He, H. (2012) · Humana Press eBooks · doi:10.1007/978-1-62703-062-5_2 · Cited by 13

Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases

Collgros, H., Iglesias‐Sancho, M., Tribó-Boixareu, M. J., Creus-Vila, L., Umbert-Millet, P., & Salleras‐Redonnet, M. (2015) · Actas Dermo-Sifiliográficas · doi:10.1016/j.adengl.2014.12.013 · Cited by 13

Protein kinase inhibitors in renal cell carcinoma

Daste, A., Grellety, T., Gross‐Goupil, M., & Ravaud, A. (2013) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2014.869210 · Cited by 13

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

Kamai, T., Tomosugi, N., Abe, H., Kaji, Y., Oyama, T., & Yoshida, K. (2012) · International Journal of Molecular Sciences · doi:10.3390/ijms131114518 · Cited by 13

Fibroids

Ordulu, Z. (2015) · Clinical Obstetrics & Gynecology · doi:10.1097/grf.0000000000000177 · Cited by 13

La léiomyomatose extra-utérine : revue de la littérature

Declas, E., & Lucot, J.-P. (2019) · Gynécologie Obstétrique Fertilité & Sénologie · doi:10.1016/j.gofs.2019.06.010 · Cited by 13

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

Ristau, B. T., Kamat, S. N., & Tarin, T. V. (2015) · Case Reports in Urology · doi:10.1155/2015/303872 · Cited by 13

Inherited Forms of Renal Cell Carcinoma

Kiuru, M. H., Kujala, M., & Aittomäki, K. (2004) · Scandinavian Journal of Surgery · doi:10.1177/145749690409300204 · Cited by 13

Editorial: Kidney Cancer???A Unique Opportunity for the Development of Disease Specific Therapy

Linehan, W. M. (2002) · The Journal of Urology · doi:10.1016/s0022-5347(05)64156-0 · Cited by 13

Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation

Laiho, P., Hienonen, T., Mecklin, J.-P., Järvinen, H., Karhu, A., Launonen, V., & Aaltonen, L. A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.5.e73 · Cited by 12

Management of renal cell carcinoma in young patients and patients with hereditary syndromes

Leung, C., Pan, S., & Shuch, B. M. (2016) · Current Opinion in Urology · doi:10.1097/mou.0000000000000322 · Cited by 12

Photoinducible Oncometabolite Detection

Kulkarni, R. A., Briney, C. A., Crooks, D. R., Bergholtz, S. E., Mushti, C., Lockett, S., Lane, A. N., Fan, T. W. ‐., Swenson, R. E., Linehan, W. M., et al. (2018) · ChemBioChem · doi:10.1002/cbic.201800651 · Cited by 12

Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP)

Pors, J., Weiel, J. J., Devereaux, K. A., Folkins, A. K., & Longacre, T. A. (2021) · International Journal of Gynecological Pathology · doi:10.1097/pgp.0000000000000797 · Cited by 12

The Use of Reverse Phase Protein Arrays (RPPA) to Explore Protein Expression Variation within Individual Renal Cell Cancers

O’Mahony, F. C., Nanda, J., Laird, A., Mullen, P., Caldwell, H., Overton, I. M., Eöry, L., O’Donnell, M., Faratian, D., Powles, T. B., et al. (2013) · Journal of Visualized Experiments · doi:10.3791/50221 · Cited by 11

Evolving Epidemiologic Trends in Nonclear Cell Renal Cell Cancer: An Analysis of the California Cancer Registry

Pai, A. P., Brunson, A. M., Brown, M. M., Pan, C.-X., & Lara, P. N. (2013) · Urology · doi:10.1016/j.urology.2013.07.020 · Cited by 12

Therapeutic Strategies for Hereditary Kidney Cancer

Sidana, A., & Srinivasan, R. (2016) · Current Oncology Reports · doi:10.1007/s11912-016-0537-6 · Cited by 12

Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc

Sourbier, C., Ricketts, C. J., Liao, P., Matsumoto, S., Wei, D., Lang, M., Railkar, R. S., Yang, Y., Wei, M.-H., Agarwal, P. K., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-55003-2 · Cited by 13

No germline FH mutations in familial breast cancer patients

Kiuru, M. H., Lehtonen, R., Eerola, H., Aittomäki, K., BLOMQVIST, C. P., Nevanlinna, H. A., Aaltonen, L. A., & Launonen, V. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201326 · Cited by 12

Evolving classification of renal cell neoplasia

Delahunt, B., Velickovic, M., & Grebe, S. K. G. (2001) · Expert Review of Anticancer Therapy · doi:10.1586/14737140.1.4.576 · Cited by 12

The impact of the new WHO classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma

Degenhardt, J., Tolkach, Y., Amin, M. B., Mosiello, G., Baydar, D. E., Gall, É. C.-L., DiCola, J., Elhag, D., Frezza, C., Halbritter, J., et al. (2025) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfaf032 · Cited by 11

The pathological and molecular genetic landscape of the hereditary renal cancer predisposition syndromes

Al‐Obaidy, K. I., Alruwaii, Z. I., Williamson, S. R., & Liang Cheng, C. (2022) · Histopathology · doi:10.1111/his.14641 · Cited by 11

Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma

Zavoshi, S., Lu, E., Boutros, P. C., Zhang, L., Harari, A., Hatchell, K. E., Nielsen, S. M., Esplin, E. D., Ouyang, K., Nykamp, K., et al. (2023) · Urology · doi:10.1016/j.urology.2022.11.053 · Cited by 11

Single Base Mutation in the Fumarate Hydratase Gene Leading to Segmental Cutaneous Leiomyomatosis

Huter, E., Wortham, N. C., Hartschuh, W., Enk, A., & Jappe, U. (2008) · Acta Dermato Venereologica · doi:10.2340/00015555-0341 · Cited by 11

Identification of a novel fumarase C from Streptomyces lividans TK54 as a good candidate for l-malate production

Su, R., Wang, A., Hou, S., Gao, P., Zhu, G., & Wang, W. (2013) · Molecular Biology Reports · doi:10.1007/s11033-013-2885-8 · Cited by 11

Cloning and Initial Functional Characterization of Mlk4α and Mlk4β

Kashuba, V. I., Витальевна, Г. Э., Kvasha, S. M., Pavlova, T. V., Grigoriev, V. V., Protopopov, A. I., Kharchenko, O. A., Gizatullin, R. Z., Rynditch, A. V., & Zabarovsky, E. R. (2011) · Genomics Insights · doi:10.4137/gei.s6092 · Cited by 11

Current understanding of the molecular mechanisms of kidney cancer: a primer for urologists

Lim, D., Ko, R., & Pautler, S. E. (2012) · Canadian Urological Association Journal · doi:10.5489/cuaj.63 · Cited by 11

No fumarate hydratase (FH) mutations in hereditary prostate cancer

Lehtonen, R., Kiuru, M. H., Rökman, A., Ikonen, T., Cunningham, J. M., Schaid, D. J., Matikainen, M., Nupponen, N. N., Karhu, A., Kallioniemi, O.-P., et al. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.3.e19 · Cited by 11

Immunohistochemical screening for the diagnosis of succinate dehydrogenase-deficient renal cell carcinoma and fumarate hydratase-deficient renal cell carcinoma

Trpkov, K., & Siadat, F. (2019) · Annals of Translational Medicine · doi:10.21037/atm.2019.09.143 · Cited by 10

The role of microplastics in elevated risk and tissues metabolic alterations in uterine fibroid of female patients

Xu, H., Dong, C., Zhang, B., Yang, J., Cheng, J., Yu, Z., Ozaki, Y., Yu, J., Ma, D., & Xie, Y. (2025) · Environmental Pollution · doi:10.1016/j.envpol.2025.126251 · Cited by 11

Diseases of Hereditary Renal Cell Cancers

Iliopoulos, O. (2023) · Urologic Clinics of North America · doi:10.1016/j.ucl.2023.01.010 · Cited by 10

Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female

Wyvekens, N., Anderson, W. J., Kim, Y. X., Carter, M., & Hirsch, M. S. (2021) · International Journal of Surgical Pathology · doi:10.1177/10668969211026241 · Cited by 10

Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis

Makino, T., Nagasaki, A., Furuichi, M., Matsui, K., Watanabe, H., Sawamura, D., Shimizu, H., & Shimizu, T. (2007) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2007.07.009 · Cited by 10

NovelFHmutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

Marque, M., Gardie, B., Paillerets, B. B., Rustin, P., Guillot, B., Richard, S., & Bessis, D. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.09912.x · Cited by 10

Rare and Unusual Endocrine Cancer Syndromes With Mutated Genes

Lodish, M. B., & Stratakis, C. A. (2010) · Seminars in Oncology · doi:10.1053/j.seminoncol.2010.10.019 · Cited by 10

Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors

Kuroda, N., Ohe, C., Kato, I., Furuya, M., Baba, M., Nagashima, Y., Nakatani, Y., Murakami, I., Zhou, M., Michal, M., et al. (2018) · Polish Journal of Pathology · doi:10.5114/pjp.2017.73920 · Cited by 10

Epidemiology of Renal Cell Carcinoma

Patel, P. H., & Srinivas, S. (2011) · Springer eBooks · doi:10.1007/978-3-642-21858-3_1 · Cited by 12

Cáncer de riñón hereditario

Sanz‐Ortega, J., Olivier, C., Segura, P. P., Romo, I. G., Manso, L., & Sáez, M. (2009) · Actas Urológicas Españolas · doi:10.1016/s0210-4806(09)74111-7 · Cited by 10

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations

Shi, W., Liu, Y., Aisagbonhi, O. A., Roma, A. A., Hasteh, F., Zare, S., & Fadare, O. (2023) · International Journal of Surgical Pathology · doi:10.1177/10668969231180285 · Cited by 9

Implications of Fumarate Hydratase Deficiency (FHD) and Cancer Risk: A Window into the Clinical and Oncological Implications of a Rare Disorder in Gynecology

D’Indinosante, M., Lardino, S., Bruno, M., Stabile, G., Pavone, M., Giannone, G., Lombardi, P., Daniele, G., Fanfani, F., Ciccarone, F., et al. (2025) · Cancers · doi:10.3390/cancers17040573 · Cited by 9

Successful treatment of multiple cutaneous leiomyomas with carbon dioxide laser ablation

Michajłowski, I., Błażewicz, I., Karpinsky, G., Sobjanek, M., & Nowicki, R. J. (2015) · Advances in Dermatology and Allergology · doi:10.5114/pdia.2015.48058 · Cited by 9

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

Seo, J. Y., Ahn, J. Y., Keam, B., Kim, M., Yoon, S., Lee, J., Park, K., & Park, I. (2020) · Annals of Laboratory Medicine · doi:10.3343/alm.2021.41.2.207 · Cited by 9

Benign gynecologic lesions

Dolan, M. S., Hill, C. C., & Valea, F. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-65399-2.00027-9 · Cited by 9

GENETIC SYNDROMES ASSOCIATED WITH RENAL CELL CARCINOMA - A REVIEW

Azeem, K., Kollárová, H., Horáková, D., Magnusková, S., & Janout, V. (2011) · Biomedical Papers · doi:10.5507/bp.2011.029 · Cited by 9

Risk, Risk Reduction and Management of Occult Malignancy Diagnosed after Uterine Morcellation: A Commentary

Lynam, S. K., Young, L., Morozov, V., Rao, G. G., & Roque, D. M. (2015) · Women s Health · doi:10.2217/whe.15.63 · Cited by 9

1q42∼q44 is rarely cytogenetically involved in sporadic uterine leiomyomata

Cin, P. D., & Morton, C. C. (2002) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(02)00585-x · Cited by 9

Modeling tumor predisposingFHmutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile

Kokko, A., Ylisaukko‐oja, S. K., Kiuru, M. H., Takatalo, M. S., Salmikangas, P., Tuimala, J., Arango, D., Karhu, A., Aaltonen, L. A., & Jäntti, J. (2005) · International Journal of Cancer · doi:10.1002/ijc.21423 · Cited by 9

A new missense mutation c.1240A>G in fumarate hydratase gene leads to uterine leiomyoma associated hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in Chinese

Wang, L., Du, R., Han, L., Yang, R., & Li, Y. (2024) · Translational Oncology · doi:10.1016/j.tranon.2024.101963 · Cited by 8

The spectrum of clinical and genetic findings in hereditary leiomyomatosis and renal cell cancer (HLRCC) with relevance to patient outcomes: a retrospective study from a large academic tertiary referral center.

Scharnitz, T., Nakamura, M., Koeppe, E. S., Henry, M.-L., Lowe, L., Else, T., & Cha, K. B. (2023) · PubMed Central · Cited by 9

Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities

Hansel, D. E., & Rini, B. I. (2008) · Expert Review of Anticancer Therapy · doi:10.1586/14737140.8.6.895 · Cited by 8

Insights into the role of NRF2 in cancer provided by cancer genomics

Pölönen, P., & Levonen, A. (2016) · Current Opinion in Toxicology · doi:10.1016/j.cotox.2016.09.002 · Cited by 9

Hysterectomy, Oophorectomy, and Risk of Renal Cell Carcinoma

Luo, J., Rohan, T. E., Neuhouser, M. L., Liu, N., Saquib, N., Li, Y., Shadyab, A. H., Qi, L., Wallace, R. B., & HENDRYX, M. S. (2021) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-20-1373 · Cited by 8

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

Alzahrani, A. S., Alswailem, M. M., Alghamdi, B., & Al‐Hindi, H. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac386 · Cited by 8

High grade infiltrative adenocarcinomas of renal cell origin: New insights into classification, morphology, and molecular pathogenesis

Singh, J. A., Ohe, C., & Smith, S. C. (2018) · Pathology International · doi:10.1111/pin.12667 · Cited by 8

Genetic Factors

Walsh, M. F., Cadoo, K. A., Salo‐Mullen, E. E., Dubard-Gault, M. E., Stadler, Z. K., & Offit, K. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-47674-4.00013-x · Cited by 10

Neoplasms of the kidney

MacLennan, G. T., & Liang Cheng, C. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-01970-5.50004-x · Cited by 8

Biología molecular del carcinoma de células claras renales: Principios para un tratamiento selectivo

Pulido, E. G., Centeno, A. M., Maroto, P., & Narbón, E. S. (2007) · Actas Urológicas Españolas · doi:10.1016/s0210-4806(07)73628-8 · Cited by 8

The use of Clinicopathological, immunohistochemistry and molecular detection in the diagnosis of fumarate hydratase-deficient uterine leiomyomas

Zhang, X., Wang, C., & Shen, D. (2023) · Pathology - Research and Practice · doi:10.1016/j.prp.2023.154916 · Cited by 7

JAAD Grand Rounds quiz∗

Donaldson, M. R., Camp, T. M., & Wells, M. J. (2009) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2009.02.042 · Cited by 7

Bioinformatics analysis and expression study of fumarate hydratase in lung cancer

Ming, Z., Jiang, M., Li, W., Fan, N., Deng, W., Zhong, Y., Zhang, Y., Zhang, Q., & Yang, S. (2014) · Thoracic Cancer · doi:10.1111/1759-7714.12127 · Cited by 7

Is fibroid heterogeneity a significant issue for clinicians and researchers?

Zhao, D., & Rogers, P. A. W. (2013) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2013.04.001 · Cited by 7

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

Aı̈ssani, B., Zhang, K., Mensenkamp, A. R., Menko, F. H., & Wiener, H. W. (2015) · Endocrine Related Cancer · doi:10.1530/erc-15-0208 · Cited by 8

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

Noguchi, G., Furuya, M., Okubo, Y., Nagashima, Y., Kato, I., Matsumoto, K., Tanaka, R. J., Hisasue, S., Yao, M., & Kishida, T. (2018) · International Journal of Urology · doi:10.1111/iju.13760 · Cited by 7

Fumarate hydratase-deficient renal cell carcinoma: A tumor with diverse morphology including cannibalism, lymphocytic emperipolesis, and defective autophagy

Billis, A., Assis‐Mendonça, G. R., Tavares, T. F., Alves, K. P. D. O., da Costa, L. B. E., Barreto, I. S., & de Freitas, L. L. L. (2021) · Annals of Diagnostic Pathology · doi:10.1016/j.anndiagpath.2021.151844 · Cited by 7

Familial Renal Cell Carcinoma

Kim, S. P., & Leibovich, B. C. (2012) · Humana Press eBooks · doi:10.1007/978-1-62703-062-5_3 · Cited by 7

Benign Uterine Diseases

Khan, Z., & Stewart, E. A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-47912-7.00026-3 · Cited by 7

The importance of histology and cytogenetics in decision making for renal cell carcinoma

Garcia, J. G., Picken, M. M., & Flanigan, R. C. (2008) · World Journal of Urology · doi:10.1007/s00345-008-0262-3 · Cited by 7

Molecular Genetics of Kidney Cancer

Zimmer, M., & Iliopoulos, O. (2003) · Cancer treatment and research · doi:10.1007/978-1-4615-0451-1_1 · Cited by 7

Epidemiology, molecular epidemiology, and risk factors for renal cell carcinoma

Paglino, C., Imarisio, I., & Rovereto, B. (2007) · Oncology Reviews · doi:10.1007/s12156-007-0013-5 · Cited by 7

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation

da Cunha, I. W., da Costa, W. H., Morini, M. A., Bezerra, S. M., Carraro, D. M., Torrezan, G. T., Formiga, M. N., Guimarães, G. C., Zéqui, S. D. C., & Soares, F. A. (2018) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-018-2420-3 · Cited by 7

Recent Advances in nccRCC Classification and Therapeutic Approaches

Wang, H., Chang, Y., Wang, K., & Liu, R. (2025) · Cells · doi:10.3390/cells14221781 · Cited by 7

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

Crooks, D. R., Cawthon, G. M., Fitzsimmons, C. M., Perez, M., Ricketts, C. J., Vocke, C. D., Yang, Y., Middelton, L. A., Nielsen, D., Schmidt, L. S., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad131 · Cited by 6

Transglutaminase 2: The Maestro of the Oncogenic Mediators in Renal Cell Carcinoma

Nezir, A. E., Ulukan, B., & Telci, D. (2019) · Medical Sciences · doi:10.3390/medsci7020024 · Cited by 6

Renal Cell Tumors: Molecular Findings Reshaping Clinico-pathological Practice

Tretiakova, M. (2020) · Archives of Medical Research · doi:10.1016/j.arcmed.2020.08.003 · Cited by 6

[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].

Yu, Y. F., He, S. M., Wu, Y. C., Xiong, S. W., Shen, Q., Li, Y. Y., Yang, F., He, Q., & Li, X. S. (2021) · PubMed Central · doi:10.19723/j.issn.1671-167x.2021.04.003 · Cited by 6

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas

Li, P., Wu, Y., Wu, H., Xiong, Q., Zhao, N., Chen, G., Wu, C., & Han, X. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031452 · Cited by 6

Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology

Kiuru, M. H., Launonen, V., Hietala, M., Aittomäki, K., Kuismin, O., Salovaara, R., Arola, J. T., Pukkala, ­., Sistonen, P., Herva, R., et al. (2001) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)61757-9 · Cited by 206

Hereditary leiomyomatosis and renal cell cancer

INSERM (2020) · Definitions · doi:10.32388/r2upfz · Cited by 1

Leiomyomatosis and Renal Cell Cancer, Hereditary

Hartmann, A., & Dietmaier, W. (2009) · Springer eBooks · doi:10.1007/978-3-540-29676-8_3203

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Kiuru, M. H., & Launonen, V. (2004) · Current Molecular Medicine · doi:10.2174/1566524043359638 · Cited by 70

22. Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report

Sharma, S., Goodwin, A., & Tran, K. L. (2010) · Pathology · doi:10.1097/01268031-201042001-00193