Literature DB >> 28400389

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

Agnieszka Adams1, Kendall Katie Sharpe2,3, Peter Peters4, Michael Freeman5.   

Abstract

Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary features. This syndrome is rare and carries with it a significant rate of mortality. A multidisciplinary approach to care is critical in the management of these patients and their families. The dermatologist can play a central role in this process, coordinating care between specialist medical and allied health teams. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  Dermatology; Obstetrics and gynaecology; Urology

Mesh:

Substances:

Year:  2017        PMID: 28400389      PMCID: PMC5543308          DOI: 10.1136/bcr-2016-215115

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  12 in total

1.  Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report.

Authors:  Karuna Garg; Satish K Tickoo; Robert A Soslow; Victor E Reuter
Journal:  Am J Surg Pathol       Date:  2011-08       Impact factor: 6.394

2.  Inherited susceptibility to uterine leiomyomas and renal cell cancer.

Authors:  V Launonen; O Vierimaa; M Kiuru; J Isola; S Roth; E Pukkala; P Sistonen; R Herva; L A Aaltonen
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-27       Impact factor: 11.205

3.  Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

Authors:  Ying-Bei Chen; A Rose Brannon; Antoun Toubaji; Maria E Dudas; Helen H Won; Hikmat A Al-Ahmadie; Samson W Fine; Anuradha Gopalan; Norma Frizzell; Martin H Voss; Paul Russo; Michael F Berger; Satish K Tickoo; Victor E Reuter
Journal:  Am J Surg Pathol       Date:  2014-05       Impact factor: 6.394

4.  Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome.

Authors:  Victoria M Raymond; Casey M Herron; Thomas J Giordano; Stephen B Gruber
Journal:  Fam Cancer       Date:  2012-03       Impact factor: 2.375

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

Authors:  Alexandra Varol; Karen Stapleton; Tony Roscioli
Journal:  Australas J Dermatol       Date:  2006-11       Impact factor: 2.875

Review 6.  Leiomyoma cutis: a focused review on presentation, management, and association with malignancy.

Authors:  Kunal Malik; Parth Patel; Jin Chen; Amor Khachemoune
Journal:  Am J Clin Dermatol       Date:  2015-02       Impact factor: 7.403

Review 7.  Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.

Authors:  Fred H Menko; Eamonn R Maher; Laura S Schmidt; Lindsay A Middelton; Kristiina Aittomäki; Ian Tomlinson; Stéphane Richard; W Marston Linehan
Journal:  Fam Cancer       Date:  2014-12       Impact factor: 2.375

8.  Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma.

Authors:  Aaron M Udager; Ajjai Alva; Ying-Bei Chen; Javed Siddiqui; Amir Lagstein; Satish K Tickoo; Victor E Reuter; Arul M Chinnaiyian; Rohit Mehra
Journal:  Am J Surg Pathol       Date:  2014-04       Impact factor: 6.394

Review 9.  Hereditary leiomyomatosis and renal cell carcinoma.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Int J Nephrol Renovasc Dis       Date:  2014-06-20

10.  Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

Authors:  Wesley J Harrison; Juliana Andrici; Fiona Maclean; Raha Madadi-Ghahan; Mahtab Farzin; Loretta Sioson; Christopher W Toon; Adele Clarkson; Nicole Watson; Justine Pickett; Michael Field; Ashley Crook; Katherine Tucker; Annabel Goodwin; Lyndal Anderson; Bhuvana Srinivasan; Petr Grossmann; Petr Martinek; Ondrej Ondič; Ondřej Hes; Kiril Trpkov; Roderick J Clifton-Bligh; Trisha Dwight; Anthony J Gill
Journal:  Am J Surg Pathol       Date:  2016-05       Impact factor: 6.394

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  3 in total

1.  Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.

Authors:  Liliana Gabriela Popa; Raluca Silvia Lutuc; Mara Mădălina Mihai; Irina Ahmed Salem; Silvius Ioan Negoiţă; Călin Giurcăneanu; Simona Vasilica Fica
Journal:  Rom J Morphol Embryol       Date:  2020 Apr-Jun       Impact factor: 1.033

2.  Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings.

Authors:  Anna K Paschall; Moozhan Nikpanah; Faraz Farhadi; Elizabeth C Jones; Paul G Wakim; Andrew J Dwyer; Rabindra Gautam; Maria J Merino; Ramaprasad Srinivasan; W Marston Linehan; Ashkan A Malayeri
Journal:  Clin Imaging       Date:  2020-06-09       Impact factor: 1.605

3.  Reed's Syndrome.

Authors:  Filipa Tavares Almeida; Rui P Santos; Sofia D Carvalho; Maria C Brito
Journal:  Indian J Dermatol       Date:  2018 May-Jun       Impact factor: 1.494

  3 in total

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