Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis
Background Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the CTNNB1 gene was evaluated in relation to known clinicopathologic risk factors in...
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| Veröffentlicht in: | Annals of surgical oncology 2015-05, Vol.22 (5), p.1464-1470 |
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| creator | van Broekhoven, Danique L. M. Verhoef, Cornelis Grünhagen, Dirk J. van Gorp, Joost M. H. H. den Bakker, Michael A. Hinrichs, John W. J. de Voijs, Carmen M. A. van Dalen, Thijs |
| description | Background
Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the
CTNNB1
gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF.
Methods
In a multi-institutional retrospective cohort study of patients with primary extra-abdominal and abdominal wall AF who underwent surgical treatment, the original pathology specimens were reviewed for the presence of a T41A, S45F, and 45P mutations on the
CTNNB1
gene. For these mutations, the risk of recurrence was analyzed by the Kaplan–Meier method with log-rank test. Univariable and multivariable Cox regression was performed to calculate hazard ratios.
Results
A total of 101 patients were analyzed. During a median follow-up of 41 months, 17 recurrences were detected; the cumulative 5-year recurrence rate was 22.8 %. A specific
CTNNB1
mutation was found in 76 patients, with the majority of patients having a T41A mutation (
n
= 49).
CTNNB1
mutations were associated with the risk of recurrence: the presence of a S45F mutation was associated with a 5-year cumulative risk of recurrence of 63.8 % (
P
|
| doi_str_mv | 10.1245/s10434-014-4156-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1753503424</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1669838001</sourcerecordid><originalsourceid>FETCH-LOGICAL-c475t-122409cf55b42b47b42bb97ece87cc060f45fd71a28341df85c3b2e2e687290c3</originalsourceid><addsrcrecordid>eNqFkVFPwyAUhYnRuDn9Ab4YEl98qQKFQh_n4qbJnEucvpKW0qZLVya0Zv57aTqNMTG-AIHvnHu5B4BzjK4xoezGYURDGiBMA4pZFOwOwBAzf0MjgQ_9GUUiiEnEBuDEuTVCmIeIHYMB8RDmVAzBamlNURvXlAq-JlWrocnhZLVY3GI407WGj22TNKWpYVnDpS03if2Az1tjk8wrxkVhtXPlu4bTMrVmkzTGle4UHOVJ5fTZfh-Bl-ndanIfzJ9mD5PxPFCUsybAhFAUq5yxlJKU8m5NY66VFlwpFKGcsjzjOCHCt5vlgqkwJZroSHASIxWOwFXvu7XmrdWukZvSKV1VSa1N6yTmLGQopIT-j0ZRLELhR-TRy1_o2rS29h_pKN-K4DH3FO4pZY1zVudy209HYiS7dGSfjvTpyC4dufOai71zm2509q34isMDpAecf6oLbX-U_tP1E1NdmJs</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1668348797</pqid></control><display><type>article</type><title>Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>van Broekhoven, Danique L. M. ; Verhoef, Cornelis ; Grünhagen, Dirk J. ; van Gorp, Joost M. H. H. ; den Bakker, Michael A. ; Hinrichs, John W. J. ; de Voijs, Carmen M. A. ; van Dalen, Thijs</creator><creatorcontrib>van Broekhoven, Danique L. M. ; Verhoef, Cornelis ; Grünhagen, Dirk J. ; van Gorp, Joost M. H. H. ; den Bakker, Michael A. ; Hinrichs, John W. J. ; de Voijs, Carmen M. A. ; van Dalen, Thijs</creatorcontrib><description>Background
Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the
CTNNB1
gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF.
Methods
In a multi-institutional retrospective cohort study of patients with primary extra-abdominal and abdominal wall AF who underwent surgical treatment, the original pathology specimens were reviewed for the presence of a T41A, S45F, and 45P mutations on the
CTNNB1
gene. For these mutations, the risk of recurrence was analyzed by the Kaplan–Meier method with log-rank test. Univariable and multivariable Cox regression was performed to calculate hazard ratios.
Results
A total of 101 patients were analyzed. During a median follow-up of 41 months, 17 recurrences were detected; the cumulative 5-year recurrence rate was 22.8 %. A specific
CTNNB1
mutation was found in 76 patients, with the majority of patients having a T41A mutation (
n
= 49).
CTNNB1
mutations were associated with the risk of recurrence: the presence of a S45F mutation was associated with a 5-year cumulative risk of recurrence of 63.8 % (
P
< 0.001). Multivariable analysis showed that young age and S45F mutation were independent risk factors (
P
= 0.011 and
P
< 0.001).
Conclusions
The presence of specific
CTNNB1
mutations was predictive for recurrence in patients after surgical treatment for primary, sporadic extra-abdominal and abdominal AF. A S45F mutation increased the risk of recurrence significantly.</description><identifier>ISSN: 1068-9265</identifier><identifier>EISSN: 1534-4681</identifier><identifier>DOI: 10.1245/s10434-014-4156-x</identifier><identifier>PMID: 25341748</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; beta Catenin - genetics ; Bone and Soft Tissue Sarcomas ; Child ; Child, Preschool ; Female ; Fibromatosis, Aggressive - genetics ; Fibromatosis, Aggressive - mortality ; Fibromatosis, Aggressive - pathology ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation - genetics ; Neoplasm Recurrence, Local - diagnosis ; Neoplasm Recurrence, Local - genetics ; Neoplasm Recurrence, Local - mortality ; Neoplasm Staging ; Oncology ; Prognosis ; Surgery ; Surgical Oncology ; Survival Rate ; Young Adult</subject><ispartof>Annals of surgical oncology, 2015-05, Vol.22 (5), p.1464-1470</ispartof><rights>Society of Surgical Oncology 2014</rights><rights>Society of Surgical Oncology 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c475t-122409cf55b42b47b42bb97ece87cc060f45fd71a28341df85c3b2e2e687290c3</citedby><cites>FETCH-LOGICAL-c475t-122409cf55b42b47b42bb97ece87cc060f45fd71a28341df85c3b2e2e687290c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1245/s10434-014-4156-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1245/s10434-014-4156-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25341748$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>van Broekhoven, Danique L. M.</creatorcontrib><creatorcontrib>Verhoef, Cornelis</creatorcontrib><creatorcontrib>Grünhagen, Dirk J.</creatorcontrib><creatorcontrib>van Gorp, Joost M. H. H.</creatorcontrib><creatorcontrib>den Bakker, Michael A.</creatorcontrib><creatorcontrib>Hinrichs, John W. J.</creatorcontrib><creatorcontrib>de Voijs, Carmen M. A.</creatorcontrib><creatorcontrib>van Dalen, Thijs</creatorcontrib><title>Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis</title><title>Annals of surgical oncology</title><addtitle>Ann Surg Oncol</addtitle><addtitle>Ann Surg Oncol</addtitle><description>Background
Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the
CTNNB1
gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF.
Methods
In a multi-institutional retrospective cohort study of patients with primary extra-abdominal and abdominal wall AF who underwent surgical treatment, the original pathology specimens were reviewed for the presence of a T41A, S45F, and 45P mutations on the
CTNNB1
gene. For these mutations, the risk of recurrence was analyzed by the Kaplan–Meier method with log-rank test. Univariable and multivariable Cox regression was performed to calculate hazard ratios.
Results
A total of 101 patients were analyzed. During a median follow-up of 41 months, 17 recurrences were detected; the cumulative 5-year recurrence rate was 22.8 %. A specific
CTNNB1
mutation was found in 76 patients, with the majority of patients having a T41A mutation (
n
= 49).
CTNNB1
mutations were associated with the risk of recurrence: the presence of a S45F mutation was associated with a 5-year cumulative risk of recurrence of 63.8 % (
P
< 0.001). Multivariable analysis showed that young age and S45F mutation were independent risk factors (
P
= 0.011 and
P
< 0.001).
Conclusions
The presence of specific
CTNNB1
mutations was predictive for recurrence in patients after surgical treatment for primary, sporadic extra-abdominal and abdominal AF. A S45F mutation increased the risk of recurrence significantly.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>beta Catenin - genetics</subject><subject>Bone and Soft Tissue Sarcomas</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Fibromatosis, Aggressive - genetics</subject><subject>Fibromatosis, Aggressive - mortality</subject><subject>Fibromatosis, Aggressive - pathology</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Neoplasm Recurrence, Local - diagnosis</subject><subject>Neoplasm Recurrence, Local - genetics</subject><subject>Neoplasm Recurrence, Local - mortality</subject><subject>Neoplasm Staging</subject><subject>Oncology</subject><subject>Prognosis</subject><subject>Surgery</subject><subject>Surgical Oncology</subject><subject>Survival Rate</subject><subject>Young Adult</subject><issn>1068-9265</issn><issn>1534-4681</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkVFPwyAUhYnRuDn9Ab4YEl98qQKFQh_n4qbJnEucvpKW0qZLVya0Zv57aTqNMTG-AIHvnHu5B4BzjK4xoezGYURDGiBMA4pZFOwOwBAzf0MjgQ_9GUUiiEnEBuDEuTVCmIeIHYMB8RDmVAzBamlNURvXlAq-JlWrocnhZLVY3GI407WGj22TNKWpYVnDpS03if2Az1tjk8wrxkVhtXPlu4bTMrVmkzTGle4UHOVJ5fTZfh-Bl-ndanIfzJ9mD5PxPFCUsybAhFAUq5yxlJKU8m5NY66VFlwpFKGcsjzjOCHCt5vlgqkwJZroSHASIxWOwFXvu7XmrdWukZvSKV1VSa1N6yTmLGQopIT-j0ZRLELhR-TRy1_o2rS29h_pKN-K4DH3FO4pZY1zVudy209HYiS7dGSfjvTpyC4dufOai71zm2509q34isMDpAecf6oLbX-U_tP1E1NdmJs</recordid><startdate>20150501</startdate><enddate>20150501</enddate><creator>van Broekhoven, Danique L. M.</creator><creator>Verhoef, Cornelis</creator><creator>Grünhagen, Dirk J.</creator><creator>van Gorp, Joost M. H. H.</creator><creator>den Bakker, Michael A.</creator><creator>Hinrichs, John W. J.</creator><creator>de Voijs, Carmen M. A.</creator><creator>van Dalen, Thijs</creator><general>Springer US</general><general>Springer Nature B.V</general><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>3V.</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20150501</creationdate><title>Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis</title><author>van Broekhoven, Danique L. M. ; Verhoef, Cornelis ; Grünhagen, Dirk J. ; van Gorp, Joost M. H. H. ; den Bakker, Michael A. ; Hinrichs, John W. J. ; de Voijs, Carmen M. A. ; van Dalen, Thijs</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c475t-122409cf55b42b47b42bb97ece87cc060f45fd71a28341df85c3b2e2e687290c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>beta Catenin - genetics</topic><topic>Bone and Soft Tissue Sarcomas</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Fibromatosis, Aggressive - genetics</topic><topic>Fibromatosis, Aggressive - mortality</topic><topic>Fibromatosis, Aggressive - pathology</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Neoplasm Recurrence, Local - diagnosis</topic><topic>Neoplasm Recurrence, Local - genetics</topic><topic>Neoplasm Recurrence, Local - mortality</topic><topic>Neoplasm Staging</topic><topic>Oncology</topic><topic>Prognosis</topic><topic>Surgery</topic><topic>Surgical Oncology</topic><topic>Survival Rate</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>van Broekhoven, Danique L. M.</creatorcontrib><creatorcontrib>Verhoef, Cornelis</creatorcontrib><creatorcontrib>Grünhagen, Dirk J.</creatorcontrib><creatorcontrib>van Gorp, Joost M. H. H.</creatorcontrib><creatorcontrib>den Bakker, Michael A.</creatorcontrib><creatorcontrib>Hinrichs, John W. J.</creatorcontrib><creatorcontrib>de Voijs, Carmen M. A.</creatorcontrib><creatorcontrib>van Dalen, Thijs</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Annals of surgical oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van Broekhoven, Danique L. M.</au><au>Verhoef, Cornelis</au><au>Grünhagen, Dirk J.</au><au>van Gorp, Joost M. H. H.</au><au>den Bakker, Michael A.</au><au>Hinrichs, John W. J.</au><au>de Voijs, Carmen M. A.</au><au>van Dalen, Thijs</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis</atitle><jtitle>Annals of surgical oncology</jtitle><stitle>Ann Surg Oncol</stitle><addtitle>Ann Surg Oncol</addtitle><date>2015-05-01</date><risdate>2015</risdate><volume>22</volume><issue>5</issue><spage>1464</spage><epage>1470</epage><pages>1464-1470</pages><issn>1068-9265</issn><eissn>1534-4681</eissn><abstract>Background
Aggressive fibromatosis (AF) comprises tumors with a varying biological behavior. Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the
CTNNB1
gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF.
Methods
In a multi-institutional retrospective cohort study of patients with primary extra-abdominal and abdominal wall AF who underwent surgical treatment, the original pathology specimens were reviewed for the presence of a T41A, S45F, and 45P mutations on the
CTNNB1
gene. For these mutations, the risk of recurrence was analyzed by the Kaplan–Meier method with log-rank test. Univariable and multivariable Cox regression was performed to calculate hazard ratios.
Results
A total of 101 patients were analyzed. During a median follow-up of 41 months, 17 recurrences were detected; the cumulative 5-year recurrence rate was 22.8 %. A specific
CTNNB1
mutation was found in 76 patients, with the majority of patients having a T41A mutation (
n
= 49).
CTNNB1
mutations were associated with the risk of recurrence: the presence of a S45F mutation was associated with a 5-year cumulative risk of recurrence of 63.8 % (
P
< 0.001). Multivariable analysis showed that young age and S45F mutation were independent risk factors (
P
= 0.011 and
P
< 0.001).
Conclusions
The presence of specific
CTNNB1
mutations was predictive for recurrence in patients after surgical treatment for primary, sporadic extra-abdominal and abdominal AF. A S45F mutation increased the risk of recurrence significantly.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>25341748</pmid><doi>10.1245/s10434-014-4156-x</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1068-9265 |
| ispartof | Annals of surgical oncology, 2015-05, Vol.22 (5), p.1464-1470 |
| issn | 1068-9265 1534-4681 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1753503424 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Adolescent Adult Aged Aged, 80 and over beta Catenin - genetics Bone and Soft Tissue Sarcomas Child Child, Preschool Female Fibromatosis, Aggressive - genetics Fibromatosis, Aggressive - mortality Fibromatosis, Aggressive - pathology Follow-Up Studies Humans Infant Infant, Newborn Male Medicine Medicine & Public Health Middle Aged Mutation - genetics Neoplasm Recurrence, Local - diagnosis Neoplasm Recurrence, Local - genetics Neoplasm Recurrence, Local - mortality Neoplasm Staging Oncology Prognosis Surgery Surgical Oncology Survival Rate Young Adult |
| title | Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis |
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