Genetics of hemangiomas, vascular malformations, and primary lymphedema.
Identifieur interne : 001531 ( PubMed/Checkpoint ); précédent : 001530; suivant : 001532Genetics of hemangiomas, vascular malformations, and primary lymphedema.
Auteurs : Julie Blatt [États-Unis] ; Cynthia M. Powell ; Craig N. Burkhart ; Joseph Stavas ; Arthur S. AylsworthSource :
- Journal of pediatric hematology/oncology [ 1536-3678 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
Abstract
With improved genetic testing and genomic sequencing, abnormalities are increasingly being identified in affected or germline tissues in DNA of patients with vascular tumors, vascular malformations, and lymphedema. Recognition of the genetics of vascular anomalies should help clinicians make more specific diagnoses, anticipate diagnosis-specific morbidities, provide better genetic counseling, and have a better understanding of the pathogenesis of these anomalies. Growing pharmacologic options, including therapies targeted to specific mutations, with obvious parallels to cancer treatment now allow the pediatric hematologist-oncologist to assume a more prominent role in clinical care and research for patients with these diagnoses. We summarize genes and genetic loci that have been associated with vascular anomalies and offer guidelines for patient evaluations.
DOI: 10.1097/MPH.0000000000000260
PubMed: 25222064
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:25222064Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetics of hemangiomas, vascular malformations, and primary lymphedema.</title><author><name sortKey="Blatt, Julie" sort="Blatt, Julie" uniqKey="Blatt J" first="Julie" last="Blatt">Julie Blatt</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill, NC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill</wicri:cityArea></affiliation></author><author><name sortKey="Powell, Cynthia M" sort="Powell, Cynthia M" uniqKey="Powell C" first="Cynthia M" last="Powell">Cynthia M. Powell</name></author><author><name sortKey="Burkhart, Craig N" sort="Burkhart, Craig N" uniqKey="Burkhart C" first="Craig N" last="Burkhart">Craig N. Burkhart</name></author><author><name sortKey="Stavas, Joseph" sort="Stavas, Joseph" uniqKey="Stavas J" first="Joseph" last="Stavas">Joseph Stavas</name></author><author><name sortKey="Aylsworth, Arthur S" sort="Aylsworth, Arthur S" uniqKey="Aylsworth A" first="Arthur S" last="Aylsworth">Arthur S. Aylsworth</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25222064</idno><idno type="pmid">25222064</idno><idno type="doi">10.1097/MPH.0000000000000260</idno><idno type="wicri:Area/PubMed/Corpus">001316</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001316</idno><idno type="wicri:Area/PubMed/Curation">001316</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001316</idno><idno type="wicri:Area/PubMed/Checkpoint">001316</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001316</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetics of hemangiomas, vascular malformations, and primary lymphedema.</title><author><name sortKey="Blatt, Julie" sort="Blatt, Julie" uniqKey="Blatt J" first="Julie" last="Blatt">Julie Blatt</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill, NC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill</wicri:cityArea></affiliation></author><author><name sortKey="Powell, Cynthia M" sort="Powell, Cynthia M" uniqKey="Powell C" first="Cynthia M" last="Powell">Cynthia M. Powell</name></author><author><name sortKey="Burkhart, Craig N" sort="Burkhart, Craig N" uniqKey="Burkhart C" first="Craig N" last="Burkhart">Craig N. Burkhart</name></author><author><name sortKey="Stavas, Joseph" sort="Stavas, Joseph" uniqKey="Stavas J" first="Joseph" last="Stavas">Joseph Stavas</name></author><author><name sortKey="Aylsworth, Arthur S" sort="Aylsworth, Arthur S" uniqKey="Aylsworth A" first="Arthur S" last="Aylsworth">Arthur S. Aylsworth</name></author></analytic><series><title level="j">Journal of pediatric hematology/oncology</title><idno type="eISSN">1536-3678</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Genetic Predisposition to Disease (genetics)</term><term>Hemangioma (genetics)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Vascular Malformations (genetics)</term><term>Vascular Neoplasms (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Anomalies vasculaires (génétique)</term><term>Enfant</term><term>Humains</term><term>Hémangiome (génétique)</term><term>Lymphoedème (génétique)</term><term>Prédisposition génétique à une maladie (génétique)</term><term>Tumeurs vasculaires (génétique)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Hemangioma</term><term>Lymphedema</term><term>Vascular Malformations</term><term>Vascular Neoplasms</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies vasculaires</term><term>Hémangiome</term><term>Lymphoedème</term><term>Prédisposition génétique à une maladie</term><term>Tumeurs vasculaires</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant</term><term>Humains</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">With improved genetic testing and genomic sequencing, abnormalities are increasingly being identified in affected or germline tissues in DNA of patients with vascular tumors, vascular malformations, and lymphedema. Recognition of the genetics of vascular anomalies should help clinicians make more specific diagnoses, anticipate diagnosis-specific morbidities, provide better genetic counseling, and have a better understanding of the pathogenesis of these anomalies. Growing pharmacologic options, including therapies targeted to specific mutations, with obvious parallels to cancer treatment now allow the pediatric hematologist-oncologist to assume a more prominent role in clinical care and research for patients with these diagnoses. We summarize genes and genetic loci that have been associated with vascular anomalies and offer guidelines for patient evaluations.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25222064</PMID><DateCreated><Year>2014</Year><Month>10</Month><Day>21</Day></DateCreated><DateCompleted><Year>2014</Year><Month>12</Month><Day>23</Day></DateCompleted><DateRevised><Year>2014</Year><Month>10</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1536-3678</ISSN><JournalIssue CitedMedium="Internet"><Volume>36</Volume><Issue>8</Issue><PubDate><Year>2014</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Journal of pediatric hematology/oncology</Title><ISOAbbreviation>J. Pediatr. Hematol. Oncol.</ISOAbbreviation></Journal><ArticleTitle>Genetics of hemangiomas, vascular malformations, and primary lymphedema.</ArticleTitle><Pagination><MedlinePgn>587-93</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1097/MPH.0000000000000260</ELocationID><Abstract><AbstractText>With improved genetic testing and genomic sequencing, abnormalities are increasingly being identified in affected or germline tissues in DNA of patients with vascular tumors, vascular malformations, and lymphedema. Recognition of the genetics of vascular anomalies should help clinicians make more specific diagnoses, anticipate diagnosis-specific morbidities, provide better genetic counseling, and have a better understanding of the pathogenesis of these anomalies. Growing pharmacologic options, including therapies targeted to specific mutations, with obvious parallels to cancer treatment now allow the pediatric hematologist-oncologist to assume a more prominent role in clinical care and research for patients with these diagnoses. We summarize genes and genetic loci that have been associated with vascular anomalies and offer guidelines for patient evaluations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Blatt</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Divisions of *Pediatric Hematology Oncology ‡Pediatric Genetics and Metabolism §Department of Pediatric Dermatology ∥Department of Radiology, The Division of Interventional Radiology †The Vascular Anomalies Clinic, The University of North Carolina School of Medicine, Chapel Hill, NC.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Powell</LastName><ForeName>Cynthia M</ForeName><Initials>CM</Initials></Author><Author ValidYN="Y"><LastName>Burkhart</LastName><ForeName>Craig N</ForeName><Initials>CN</Initials></Author><Author ValidYN="Y"><LastName>Stavas</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Aylsworth</LastName><ForeName>Arthur S</ForeName><Initials>AS</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Pediatr Hematol Oncol</MedlineTA><NlmUniqueID>9505928</NlmUniqueID><ISSNLinking>1077-4114</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006391" MajorTopicYN="N">Hemangioma</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D054079" MajorTopicYN="N">Vascular Malformations</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019043" MajorTopicYN="N">Vascular Neoplasms</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>9</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>9</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25222064</ArticleId><ArticleId IdType="doi">10.1097/MPH.0000000000000260</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Caroline du Nord</li></region></list><tree><noCountry><name sortKey="Aylsworth, Arthur S" sort="Aylsworth, Arthur S" uniqKey="Aylsworth A" first="Arthur S" last="Aylsworth">Arthur S. Aylsworth</name><name sortKey="Burkhart, Craig N" sort="Burkhart, Craig N" uniqKey="Burkhart C" first="Craig N" last="Burkhart">Craig N. Burkhart</name><name sortKey="Powell, Cynthia M" sort="Powell, Cynthia M" uniqKey="Powell C" first="Cynthia M" last="Powell">Cynthia M. Powell</name><name sortKey="Stavas, Joseph" sort="Stavas, Joseph" uniqKey="Stavas J" first="Joseph" last="Stavas">Joseph Stavas</name></noCountry><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Blatt, Julie" sort="Blatt, Julie" uniqKey="Blatt J" first="Julie" last="Blatt">Julie Blatt</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001531 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 001531 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:25222064
|texte= Genetics of hemangiomas, vascular malformations, and primary lymphedema.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:25222064" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |