Literature DB >> 20510956

A case report of hereditary leiomyomatosis and renal cell cancer.

Melissa K Frey1, Michael J Worley, Katherine P Heyman, Thomas A Caputo.   

Abstract

A 27-year-old woman, gravida 0, presented with uterine and cutaneous leiomyomata. Genetic testing confirmed hereditary leiomyomatosis and renal cell cancer syndrome, an autosomal dominant disorder caused by germline mutations in the fumarate hydratase gene. Specific screening guidelines do not exist and are often individual and treatment center dependent. Copyright 2010 Mosby, Inc. All rights reserved.

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Year:  2010        PMID: 20510956     DOI: 10.1016/j.ajog.2010.03.042

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


  3 in total

Review 1.  Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).

Authors:  Mei Hua Wong; Chuen Seng Tan; Soo Chin Lee; Yvonne Yong; Aik Seng Ooi; Joanne Ngeow; Min Han Tan
Journal:  Fam Cancer       Date:  2014-06       Impact factor: 2.375

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

Authors:  Heli J Lehtonen
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.446

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

Authors:  Vinay Gunnala; Nigel Pereira; Mohamad Irani; Debra Lilienthal; Edyta C Pirog; Robert Soslow; Thomas A Caputo; Rony Elias; Isaac Kligman; Zev Rosenwaks
Journal:  Int J Gynecol Pathol       Date:  2018-05       Impact factor: 2.762

  3 in total

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