Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer

Summary Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may deve...

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Veröffentlicht in:Clinical and experimental dermatology 2005-01, Vol.30 (1), p.75-78
Hauptverfasser: Chan, I., Wong, T., Martinez-Mir, A., Christiano, A. M., McGrath, J. A.
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container_issue 1
container_start_page 75
container_title Clinical and experimental dermatology
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creator Chan, I.
Wong, T.
Martinez-Mir, A.
Christiano, A. M.
McGrath, J. A.
description Summary Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may develop the rare type II papillary renal cell cancer, in addition to skin leiomyomas. Recently, heterozygous mutations in the gene encoding fumarate hydratase have been found to underlie both conditions. Fumarate hydratase is an enzyme that catalyses the conversion of fumarate to malate in the Kreb's cycle and may also function as a tumour suppressor gene. We report a family with multiple leiomyomas, uterine fibroids and papillary renal cell cancer. The proband is a 77‐year‐old Polish woman who developed multiple cutaneous leiomyomas on her right upper arm in her thirties and subsequently underwent a hysterectomy for uterine fibroids in her forties. She has four offspring: her eldest daughter also has skin and uterine leiomyomas with a similar onset; her son has multiple skin leiomyomas and in addition was diagnosed with metastatic papillary renal cell cancer at the age of 50 years; the two youngest daughters are unaffected. DNA sequencing in all the affected individuals disclosed a heterozygous G→C substitution at nucleotide 173 of the fumarate hydratase gene, that converts an arginine residue (CGA) to proline (CCA). This missense mutation has not been reported previously and is designated R58P. Interestingly, the clinically asymptomatic 20‐year‐old son of the individual with renal cancer was also found to be heterozygous for R58P. It is likely that he will develop skin leiomyomas in the future but the risk of renal cancer is difficult to predict. Nevertheless, detection of this mutation has important implications for screening and genetic counselling in this and other family members.
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M. ; McGrath, J. A.</creator><creatorcontrib>Chan, I. ; Wong, T. ; Martinez-Mir, A. ; Christiano, A. M. ; McGrath, J. A.</creatorcontrib><description>Summary Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may develop the rare type II papillary renal cell cancer, in addition to skin leiomyomas. Recently, heterozygous mutations in the gene encoding fumarate hydratase have been found to underlie both conditions. Fumarate hydratase is an enzyme that catalyses the conversion of fumarate to malate in the Kreb's cycle and may also function as a tumour suppressor gene. We report a family with multiple leiomyomas, uterine fibroids and papillary renal cell cancer. The proband is a 77‐year‐old Polish woman who developed multiple cutaneous leiomyomas on her right upper arm in her thirties and subsequently underwent a hysterectomy for uterine fibroids in her forties. She has four offspring: her eldest daughter also has skin and uterine leiomyomas with a similar onset; her son has multiple skin leiomyomas and in addition was diagnosed with metastatic papillary renal cell cancer at the age of 50 years; the two youngest daughters are unaffected. DNA sequencing in all the affected individuals disclosed a heterozygous G→C substitution at nucleotide 173 of the fumarate hydratase gene, that converts an arginine residue (CGA) to proline (CCA). This missense mutation has not been reported previously and is designated R58P. Interestingly, the clinically asymptomatic 20‐year‐old son of the individual with renal cancer was also found to be heterozygous for R58P. 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M.</creatorcontrib><creatorcontrib>McGrath, J. A.</creatorcontrib><title>Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer</title><title>Clinical and experimental dermatology</title><addtitle>Clin Exp Dermatol</addtitle><description>Summary Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may develop the rare type II papillary renal cell cancer, in addition to skin leiomyomas. Recently, heterozygous mutations in the gene encoding fumarate hydratase have been found to underlie both conditions. Fumarate hydratase is an enzyme that catalyses the conversion of fumarate to malate in the Kreb's cycle and may also function as a tumour suppressor gene. We report a family with multiple leiomyomas, uterine fibroids and papillary renal cell cancer. The proband is a 77‐year‐old Polish woman who developed multiple cutaneous leiomyomas on her right upper arm in her thirties and subsequently underwent a hysterectomy for uterine fibroids in her forties. She has four offspring: her eldest daughter also has skin and uterine leiomyomas with a similar onset; her son has multiple skin leiomyomas and in addition was diagnosed with metastatic papillary renal cell cancer at the age of 50 years; the two youngest daughters are unaffected. DNA sequencing in all the affected individuals disclosed a heterozygous G→C substitution at nucleotide 173 of the fumarate hydratase gene, that converts an arginine residue (CGA) to proline (CCA). This missense mutation has not been reported previously and is designated R58P. Interestingly, the clinically asymptomatic 20‐year‐old son of the individual with renal cancer was also found to be heterozygous for R58P. 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M.</creator><creator>McGrath, J. A.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>200501</creationdate><title>Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer</title><author>Chan, I. ; Wong, T. ; Martinez-Mir, A. ; Christiano, A. M. ; McGrath, J. A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4625-bd2570266f11923e1955778a036c8064eecbdaccffb84d7033178175ad93e8643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Carcinoma, Papillary - genetics</topic><topic>Carcinoma, Renal Cell - genetics</topic><topic>Dermatology</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Female genital diseases</topic><topic>Fumarate Hydratase - genetics</topic><topic>Genetic Predisposition to Disease</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Leiomyoma - complications</topic><topic>Leiomyoma - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation, Missense</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Skin Neoplasms - genetics</topic><topic>Tumors</topic><topic>Uterine Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chan, I.</creatorcontrib><creatorcontrib>Wong, T.</creatorcontrib><creatorcontrib>Martinez-Mir, A.</creatorcontrib><creatorcontrib>Christiano, A. M.</creatorcontrib><creatorcontrib>McGrath, J. 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A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer</atitle><jtitle>Clinical and experimental dermatology</jtitle><addtitle>Clin Exp Dermatol</addtitle><date>2005-01</date><risdate>2005</risdate><volume>30</volume><issue>1</issue><spage>75</spage><epage>78</epage><pages>75-78</pages><issn>0307-6938</issn><eissn>1365-2230</eissn><coden>CEDEDE</coden><abstract>Summary Multiple cutaneous and uterine leiomyomas is an autosomal dominant condition that results in benign smooth muscle tumours of the skin and, in females, uterine fibroids. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer syndrome in which affected individuals may develop the rare type II papillary renal cell cancer, in addition to skin leiomyomas. Recently, heterozygous mutations in the gene encoding fumarate hydratase have been found to underlie both conditions. Fumarate hydratase is an enzyme that catalyses the conversion of fumarate to malate in the Kreb's cycle and may also function as a tumour suppressor gene. We report a family with multiple leiomyomas, uterine fibroids and papillary renal cell cancer. The proband is a 77‐year‐old Polish woman who developed multiple cutaneous leiomyomas on her right upper arm in her thirties and subsequently underwent a hysterectomy for uterine fibroids in her forties. She has four offspring: her eldest daughter also has skin and uterine leiomyomas with a similar onset; her son has multiple skin leiomyomas and in addition was diagnosed with metastatic papillary renal cell cancer at the age of 50 years; the two youngest daughters are unaffected. DNA sequencing in all the affected individuals disclosed a heterozygous G→C substitution at nucleotide 173 of the fumarate hydratase gene, that converts an arginine residue (CGA) to proline (CCA). This missense mutation has not been reported previously and is designated R58P. Interestingly, the clinically asymptomatic 20‐year‐old son of the individual with renal cancer was also found to be heterozygous for R58P. It is likely that he will develop skin leiomyomas in the future but the risk of renal cancer is difficult to predict. Nevertheless, detection of this mutation has important implications for screening and genetic counselling in this and other family members.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>15663510</pmid><doi>10.1111/j.1365-2230.2004.01675.x</doi><tpages>4</tpages></addata></record>
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subjects Aged
Biological and medical sciences
Carcinoma, Papillary - genetics
Carcinoma, Renal Cell - genetics
Dermatology
DNA Mutational Analysis
Female
Female genital diseases
Fumarate Hydratase - genetics
Genetic Predisposition to Disease
Gynecology. Andrology. Obstetrics
Humans
Leiomyoma - complications
Leiomyoma - genetics
Male
Medical sciences
Middle Aged
Mutation, Missense
Neoplasms, Multiple Primary - genetics
Pedigree
Point Mutation
Polymerase Chain Reaction - methods
Skin Neoplasms - genetics
Tumors
Uterine Neoplasms - genetics
title Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer
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