AustralieFrV1, Main, Exploration, bibRecord, 00C228

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Identifieur interne : 00C228 ( Main/Exploration ); précédent : 00C227; suivant : 00C229

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Auteurs : B. Nord [Suède] ; A. Platz [Suède] ; K. Smoczynski [Suède] ; S. Kytöl [Suède] ; G. Robertson [États-Unis] ; A. Calender [France] ; A. Murat [France] ; D. Weintraub [Suisse] ; J. Burgess [Australie] ; M. Edwards [Australie] ; B. Skogseid [Suède] ; D. Owen [Canada] ; N. Lassam [Canada] ; D. Hogg [Canada] ; C. Larsson [Suède] ; BIN TEAN TEH [Suède]

Source :

International journal of cancer [ 0020-7136 ] ; 2000.

RBID : Pascal:00-0424824

Descripteurs français

Pascal (Inist)
- Polyadénomatose endocrinienne I, Association, Mélanome, Peau, Gène suppresseur tumeur, Perte hétérozygotie, Délétion, Mutation somatique, Chromosome C11 anormal, Sporadique, Cytogénétique, Tumorigénicité, Homme, Gène MEN1.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Abnormal chromosome C11, Association, Cytogenetics, Deletion, Human, Loss of heterozygosity, Melanoma, Multiple endocrine neoplasia type I, Skin, Somatic mutation, Sporadic, Tumor suppressor gene, Tumorigenicity.

Abstract

Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.

Affiliations:

Australie, Canada, France, Suisse, Suède, États-Unis
Auvergne-Rhône-Alpes, Californie, Ontario, Pays de la Loire, Rhône-Alpes, Svealand
Lyon, Nantes, Stockholm, Toronto
Université de Toronto

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 005E30
to stream PascalFrancis, to step Curation: 000340
to stream PascalFrancis, to step Checkpoint: 005C24
to stream Main, to step Merge: 00D172
to stream Main, to step Curation: 00C228

Le document en format XML

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<s2>Stockholm</s2>
<s3>SWE</s3>
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<placeName><settlement type="city">Stockholm</settlement>
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<author><name sortKey="Bin Tean Teh" sort="Bin Tean Teh" uniqKey="Bin Tean Teh" last="Bin Tean Teh">BIN TEAN TEH</name>
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<s2>Stockholm</s2>
<s3>SWE</s3>
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</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal chromosome C11</term>
<term>Association</term>
<term>Cytogenetics</term>
<term>Deletion</term>
<term>Human</term>
<term>Loss of heterozygosity</term>
<term>Melanoma</term>
<term>Multiple endocrine neoplasia type I</term>
<term>Skin</term>
<term>Somatic mutation</term>
<term>Sporadic</term>
<term>Tumor suppressor gene</term>
<term>Tumorigenicity</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Polyadénomatose endocrinienne I</term>
<term>Association</term>
<term>Mélanome</term>
<term>Peau</term>
<term>Gène suppresseur tumeur</term>
<term>Perte hétérozygotie</term>
<term>Délétion</term>
<term>Mutation somatique</term>
<term>Chromosome C11 anormal</term>
<term>Sporadique</term>
<term>Cytogénétique</term>
<term>Tumorigénicité</term>
<term>Homme</term>
<term>Gène MEN1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Suisse</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Californie</li>
<li>Ontario</li>
<li>Pays de la Loire</li>
<li>Rhône-Alpes</li>
<li>Svealand</li>
</region>
<settlement><li>Lyon</li>
<li>Nantes</li>
<li>Stockholm</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Suède"><region name="Svealand"><name sortKey="Nord, B" sort="Nord, B" uniqKey="Nord B" first="B." last="Nord">B. Nord</name>
</region>
<name sortKey="Bin Tean Teh" sort="Bin Tean Teh" uniqKey="Bin Tean Teh" last="Bin Tean Teh">BIN TEAN TEH</name>
<name sortKey="Kytol, S" sort="Kytol, S" uniqKey="Kytol S" first="S." last="Kytöl">S. Kytöl</name>
<name sortKey="Larsson, C" sort="Larsson, C" uniqKey="Larsson C" first="C." last="Larsson">C. Larsson</name>
<name sortKey="Platz, A" sort="Platz, A" uniqKey="Platz A" first="A." last="Platz">A. Platz</name>
<name sortKey="Skogseid, B" sort="Skogseid, B" uniqKey="Skogseid B" first="B." last="Skogseid">B. Skogseid</name>
<name sortKey="Smoczynski, K" sort="Smoczynski, K" uniqKey="Smoczynski K" first="K." last="Smoczynski">K. Smoczynski</name>
</country>
<country name="États-Unis"><region name="Californie"><name sortKey="Robertson, G" sort="Robertson, G" uniqKey="Robertson G" first="G." last="Robertson">G. Robertson</name>
</region>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Calender, A" sort="Calender, A" uniqKey="Calender A" first="A." last="Calender">A. Calender</name>
</region>
<name sortKey="Murat, A" sort="Murat, A" uniqKey="Murat A" first="A." last="Murat">A. Murat</name>
</country>
<country name="Suisse"><noRegion><name sortKey="Weintraub, D" sort="Weintraub, D" uniqKey="Weintraub D" first="D." last="Weintraub">D. Weintraub</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Burgess, J" sort="Burgess, J" uniqKey="Burgess J" first="J." last="Burgess">J. Burgess</name>
</noRegion>
<name sortKey="Edwards, M" sort="Edwards, M" uniqKey="Edwards M" first="M." last="Edwards">M. Edwards</name>
</country>
<country name="Canada"><noRegion><name sortKey="Owen, D" sort="Owen, D" uniqKey="Owen D" first="D." last="Owen">D. Owen</name>
</noRegion>
<name sortKey="Hogg, D" sort="Hogg, D" uniqKey="Hogg D" first="D." last="Hogg">D. Hogg</name>
<name sortKey="Lassam, N" sort="Lassam, N" uniqKey="Lassam N" first="N." last="Lassam">N. Lassam</name>
</country>
</tree>
</affiliations>
</record>

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Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

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