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Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions
Abstract Muir–Torre syndrome ( MTS ) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma ( KA ) and sebaceous tumors. Although MTS and hereditary non‐polyposis colorectal cancer ( HNPCC ) share the same genetic alterations in mismatch repair ( MMR ) genes, the other sk...
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| Published in: | Journal of dermatology 2015-11, Vol.42 (11), p.1087-1090 |
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| Main Authors: | , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c869-36e4a22544f547b55f53f109af9025a881781832a221a511cd6956be64ea04d13 |
| container_end_page | 1090 |
| container_issue | 11 |
| container_start_page | 1087 |
| container_title | Journal of dermatology |
| container_volume | 42 |
| creator | Hatta, Naohito Takata, Akiko Ishizawa, Shin Niida, Yo |
| description | Abstract
Muir–Torre syndrome (
MTS
) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (
KA
) and sebaceous tumors. Although
MTS
and hereditary non‐polyposis colorectal cancer (
HNPCC
) share the same genetic alterations in mismatch repair (
MMR
) genes, the other skin lesions in
MTS
or
HNPCC
have been only rarely reported. We report a family with an
MSH
2
mutation c.1126_1127del
TT
(p.Leu376Thrfs*12). A 46‐year‐old male proband developed
KA
with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for
MTS
. His 80‐year‐old mother, diagnosed with
HNPCC
, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated
MSH
2 protein expression in
KA
, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that
MMR
gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in
MTS
/
HNPCC
patients. |
| doi_str_mv | 10.1111/1346-8138.12949 |
| format | article |
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Muir–Torre syndrome (
MTS
) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (
KA
) and sebaceous tumors. Although
MTS
and hereditary non‐polyposis colorectal cancer (
HNPCC
) share the same genetic alterations in mismatch repair (
MMR
) genes, the other skin lesions in
MTS
or
HNPCC
have been only rarely reported. We report a family with an
MSH
2
mutation c.1126_1127del
TT
(p.Leu376Thrfs*12). A 46‐year‐old male proband developed
KA
with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for
MTS
. His 80‐year‐old mother, diagnosed with
HNPCC
, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated
MSH
2 protein expression in
KA
, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that
MMR
gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in
MTS
/
HNPCC
patients.</description><identifier>ISSN: 0385-2407</identifier><identifier>EISSN: 1346-8138</identifier><identifier>DOI: 10.1111/1346-8138.12949</identifier><language>eng</language><ispartof>Journal of dermatology, 2015-11, Vol.42 (11), p.1087-1090</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c869-36e4a22544f547b55f53f109af9025a881781832a221a511cd6956be64ea04d13</citedby><cites>FETCH-LOGICAL-c869-36e4a22544f547b55f53f109af9025a881781832a221a511cd6956be64ea04d13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids></links><search><creatorcontrib>Hatta, Naohito</creatorcontrib><creatorcontrib>Takata, Akiko</creatorcontrib><creatorcontrib>Ishizawa, Shin</creatorcontrib><creatorcontrib>Niida, Yo</creatorcontrib><title>Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions</title><title>Journal of dermatology</title><description>Abstract
Muir–Torre syndrome (
MTS
) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (
KA
) and sebaceous tumors. Although
MTS
and hereditary non‐polyposis colorectal cancer (
HNPCC
) share the same genetic alterations in mismatch repair (
MMR
) genes, the other skin lesions in
MTS
or
HNPCC
have been only rarely reported. We report a family with an
MSH
2
mutation c.1126_1127del
TT
(p.Leu376Thrfs*12). A 46‐year‐old male proband developed
KA
with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for
MTS
. His 80‐year‐old mother, diagnosed with
HNPCC
, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated
MSH
2 protein expression in
KA
, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that
MMR
gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in
MTS
/
HNPCC
patients.</description><issn>0385-2407</issn><issn>1346-8138</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNo9kM1OwzAQhC0EEqVw5uoXSOv1X-wjqiitVMSBHrhF28ShpolT2alQ356EIvYy2pnZPXyEPAKbwTBzEFJnBoSZAbfSXpHJv3NNJkwYlXHJ8ltyl9IXY9wqYBPyscTWN2f67fs9fX1fUU7bU4-97wI9Rpdc6H34vMQHF7HvsMTQ77sWKYZq7Ax76WJ3SjQdfKCNS8Nxuic3NTbJPfzplGyXz9vFKtu8vawXT5usNNpmQjuJnCspayXznVK1EjUwi7VlXKExkBswgg8dQAVQVtoqvXNaOmSyAjEl88vbMnYpRVcXx-hbjOcCWDFyKUYKxUih-OUifgCG4lUt</recordid><startdate>201511</startdate><enddate>201511</enddate><creator>Hatta, Naohito</creator><creator>Takata, Akiko</creator><creator>Ishizawa, Shin</creator><creator>Niida, Yo</creator><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>201511</creationdate><title>Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions</title><author>Hatta, Naohito ; Takata, Akiko ; Ishizawa, Shin ; Niida, Yo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c869-36e4a22544f547b55f53f109af9025a881781832a221a511cd6956be64ea04d13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hatta, Naohito</creatorcontrib><creatorcontrib>Takata, Akiko</creatorcontrib><creatorcontrib>Ishizawa, Shin</creatorcontrib><creatorcontrib>Niida, Yo</creatorcontrib><collection>CrossRef</collection><jtitle>Journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hatta, Naohito</au><au>Takata, Akiko</au><au>Ishizawa, Shin</au><au>Niida, Yo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions</atitle><jtitle>Journal of dermatology</jtitle><date>2015-11</date><risdate>2015</risdate><volume>42</volume><issue>11</issue><spage>1087</spage><epage>1090</epage><pages>1087-1090</pages><issn>0385-2407</issn><eissn>1346-8138</eissn><abstract>Abstract
Muir–Torre syndrome (
MTS
) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (
KA
) and sebaceous tumors. Although
MTS
and hereditary non‐polyposis colorectal cancer (
HNPCC
) share the same genetic alterations in mismatch repair (
MMR
) genes, the other skin lesions in
MTS
or
HNPCC
have been only rarely reported. We report a family with an
MSH
2
mutation c.1126_1127del
TT
(p.Leu376Thrfs*12). A 46‐year‐old male proband developed
KA
with sebaceous differentiation, colon cancer and gastric cancer, and fulfilled the diagnostic criteria for
MTS
. His 80‐year‐old mother, diagnosed with
HNPCC
, presented with multiple gastrointestinal tract cancers, Bowen's disease and actinic keratosis. Immunostaining revealed attenuated
MSH
2 protein expression in
KA
, as well as in Bowen's disease and actinic keratosis lesions. These findings suggest that
MMR
gene abnormality is also critical in the development of benign or malignant cutaneous tumors such as actinic keratosis and Bowen's disease in
MTS
/
HNPCC
patients.</abstract><doi>10.1111/1346-8138.12949</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0385-2407 |
| ispartof | Journal of dermatology, 2015-11, Vol.42 (11), p.1087-1090 |
| issn | 0385-2407 1346-8138 |
| language | eng |
| recordid | cdi_crossref_primary_10_1111_1346_8138_12949 |
| source | Wiley-Blackwell Journals |
| title | Family with MSH 2 mutation presenting with keratoacanthoma and precancerous skin lesions |
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