Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual pain...
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| Veröffentlicht in: | American journal of human genetics 1999-03, Vol.64 (3), p.801-807 |
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| container_title | American journal of human genetics |
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| creator | Martignetti, John A. Desnick, Robert J. Aliprandis, Elias Norton, Karen I. Hardcastle, Philip Nade, Sydney Gelb, Bruce D. |
| description | Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of ∼3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [θ] .05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. Identification of this rare familial sarcoma-causing gene would be expected to simultaneously define the cause of the more common nonfamilial, or sporadic, form of MFH—a tumor that constitutes ∼6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma. |
| doi_str_mv | 10.1086/302297 |
| format | Article |
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This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of ∼3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [θ] .05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. Identification of this rare familial sarcoma-causing gene would be expected to simultaneously define the cause of the more common nonfamilial, or sporadic, form of MFH—a tumor that constitutes ∼6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/302297</identifier><identifier>PMID: 10053015</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Biological and medical sciences ; Bone Diseases, Developmental - genetics ; Cell Line ; Chromosome Mapping ; Chromosomes, Human, Pair 9 - genetics ; Cloning, Molecular ; Diseases of the osteoarticular system ; Genes, Dominant ; Genetic Linkage ; Haplotypes ; Hereditary cancer syndrome ; Histiocytoma, Benign Fibrous - genetics ; Humans ; Lod Score ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Malignant fibrous histiocytoma ; Medical sciences ; Neoplastic Syndromes, Hereditary - genetics ; Pedigree ; Polymorphism, Restriction Fragment Length ; Skeletal dysplasia ; Tumor-suppressor gene</subject><ispartof>American journal of human genetics, 1999-03, Vol.64 (3), p.801-807</ispartof><rights>1999 The American Society of Human Genetics</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-1993bb01943e32ce1ea9a827cd3226e6fc7742ad651500c642ecf176a0854d933</citedby><cites>FETCH-LOGICAL-c461t-1993bb01943e32ce1ea9a827cd3226e6fc7742ad651500c642ecf176a0854d933</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377798/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/302297$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,886,3551,27929,27930,46000,53796,53798</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1737549$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10053015$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Martignetti, John A.</creatorcontrib><creatorcontrib>Desnick, Robert J.</creatorcontrib><creatorcontrib>Aliprandis, Elias</creatorcontrib><creatorcontrib>Norton, Karen I.</creatorcontrib><creatorcontrib>Hardcastle, Philip</creatorcontrib><creatorcontrib>Nade, Sydney</creatorcontrib><creatorcontrib>Gelb, Bruce D.</creatorcontrib><title>Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of ∼3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [θ] .05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. Identification of this rare familial sarcoma-causing gene would be expected to simultaneously define the cause of the more common nonfamilial, or sporadic, form of MFH—a tumor that constitutes ∼6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma.</description><subject>Biological and medical sciences</subject><subject>Bone Diseases, Developmental - genetics</subject><subject>Cell Line</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 9 - genetics</subject><subject>Cloning, Molecular</subject><subject>Diseases of the osteoarticular system</subject><subject>Genes, Dominant</subject><subject>Genetic Linkage</subject><subject>Haplotypes</subject><subject>Hereditary cancer syndrome</subject><subject>Histiocytoma, Benign Fibrous - genetics</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Malignant fibrous histiocytoma</subject><subject>Medical sciences</subject><subject>Neoplastic Syndromes, Hereditary - genetics</subject><subject>Pedigree</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Skeletal dysplasia</subject><subject>Tumor-suppressor gene</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkU9v1DAQxS0EokuBj4B8QNxC_SexYw5IsG1ZpFYcCmdr1pl0jbJxsL1FufDZ69WuaOE0kufn90bvEfKas_ectepMMiGMfkIWvJG6Uoo1T8mCMSYqU95PyIuUfjLGecvkc3LCGWsk482C_Dn3MG3mhDDQa-x2wwBxpjcZx5B8or993tBrGPztCGOml34dwy7RlU_ZBzfnsIUPFOgKI3Y-779-DiPS8zlNAyQPZ0sYHUZ6M49dDFssWlOiOVAzCV4J8ZI862FI-Oo4T8mPy4vvy1V19e3L1-Wnq8rViueKGyPXa8ZNLVEKhxzBQCu066QQClXvtK4FdKrhDWNO1QJdz7UC1jZ1Z6Q8JR8PutNuvcXO4ZgjDHaKfluOtgG8_Xcz-o29DXeWS621aYvAu6NADL92mLLd-uSwxDViScQq05iCmQfQxZBSxP6vCWd2X5U9VFXAN49PeoQduinA2yMAycHQxxKlTw-clrqp94bsgGHJ785jtMl5LKl3PqLLtgv-f-t72iSrvg</recordid><startdate>19990301</startdate><enddate>19990301</enddate><creator>Martignetti, John A.</creator><creator>Desnick, Robert J.</creator><creator>Aliprandis, Elias</creator><creator>Norton, Karen I.</creator><creator>Hardcastle, Philip</creator><creator>Nade, Sydney</creator><creator>Gelb, Bruce D.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><scope>6I.</scope><scope>AAFTH</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>19990301</creationdate><title>Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22</title><author>Martignetti, John A. ; Desnick, Robert J. ; Aliprandis, Elias ; Norton, Karen I. ; Hardcastle, Philip ; Nade, Sydney ; Gelb, Bruce D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c461t-1993bb01943e32ce1ea9a827cd3226e6fc7742ad651500c642ecf176a0854d933</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Biological and medical sciences</topic><topic>Bone Diseases, Developmental - genetics</topic><topic>Cell Line</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 9 - genetics</topic><topic>Cloning, Molecular</topic><topic>Diseases of the osteoarticular system</topic><topic>Genes, Dominant</topic><topic>Genetic Linkage</topic><topic>Haplotypes</topic><topic>Hereditary cancer syndrome</topic><topic>Histiocytoma, Benign Fibrous - genetics</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Malignant fibrous histiocytoma</topic><topic>Medical sciences</topic><topic>Neoplastic Syndromes, Hereditary - genetics</topic><topic>Pedigree</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Skeletal dysplasia</topic><topic>Tumor-suppressor gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Martignetti, John A.</creatorcontrib><creatorcontrib>Desnick, Robert J.</creatorcontrib><creatorcontrib>Aliprandis, Elias</creatorcontrib><creatorcontrib>Norton, Karen I.</creatorcontrib><creatorcontrib>Hardcastle, Philip</creatorcontrib><creatorcontrib>Nade, Sydney</creatorcontrib><creatorcontrib>Gelb, Bruce D.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martignetti, John A.</au><au>Desnick, Robert J.</au><au>Aliprandis, Elias</au><au>Norton, Karen I.</au><au>Hardcastle, Philip</au><au>Nade, Sydney</au><au>Gelb, Bruce D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1999-03-01</date><risdate>1999</risdate><volume>64</volume><issue>3</issue><spage>801</spage><epage>807</epage><pages>801-807</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology. This rare hereditary cancer syndrome is characterized by bone infarctions, cortical growth abnormalities, pathological fractures, and eventual painful debilitation. Notably, 35% of individuals with DMS develop MFH, a highly malignant bone sarcoma. A genome scan for the DMS-MFH gene locus in three unrelated families with DMS-MFH linked the syndrome to a region of ∼3 cM on chromosome 9p21-22, with a maximal two-point LOD score of 5.49 (marker D9S171 at recombination fraction [θ] .05). Interestingly, this region had previously been shown to be the site of chromosomal abnormalities in several other malignancies and contains a number of genes whose protein products are involved in growth regulation. 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| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Access via ScienceDirect (Elsevier); PubMed Central |
| subjects | Biological and medical sciences Bone Diseases, Developmental - genetics Cell Line Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Cloning, Molecular Diseases of the osteoarticular system Genes, Dominant Genetic Linkage Haplotypes Hereditary cancer syndrome Histiocytoma, Benign Fibrous - genetics Humans Lod Score Malformations and congenital and or hereditary diseases involving bones. Joint deformations Malignant fibrous histiocytoma Medical sciences Neoplastic Syndromes, Hereditary - genetics Pedigree Polymorphism, Restriction Fragment Length Skeletal dysplasia Tumor-suppressor gene |
| title | Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 |
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