Literature DB >> 17034471

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

Alexandra Varol1, Karen Stapleton, Tony Roscioli.   

Abstract

A 55-year-old woman presented with multiple cutaneous leiomyomas and multiple uterine leiomyomas (fibroids). The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene mutation. This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families.

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Year:  2006        PMID: 17034471     DOI: 10.1111/j.1440-0960.2006.00294.x

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN: 0004-8380            Impact factor:   2.875


  4 in total

1.  Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach.

Authors:  Agnieszka Adams; Kendall Katie Sharpe; Peter Peters; Michael Freeman
Journal:  BMJ Case Rep       Date:  2017-04-11

Review 2.  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

3.  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

4.  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

  4 in total

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