Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X
Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastroin...
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Aran Ediciones
2012-03-01
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| Series: | Revista Espanola de Enfermedades Digestivas |
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| Online Access: | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000300009 |
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doaj-51182d6097df4f59b957ffa646058dce2020-11-25T01:09:36ZengAran EdicionesRevista Espanola de Enfermedades Digestivas1130-01082012-03-011043146150Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421XOrestis IoannidisGeorge ParaskevasStavros ChatzopoulosAnastasios KotronisNikolaos PapadimitriouAthina KonstantaraApostolos MakrantonakisEmmanouil KakoutisFamilial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000300009Adenomatous polyposis coliColorectal cancerFibromatosisMutation |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Orestis Ioannidis George Paraskevas Stavros Chatzopoulos Anastasios Kotronis Nikolaos Papadimitriou Athina Konstantara Apostolos Makrantonakis Emmanouil Kakoutis |
| spellingShingle |
Orestis Ioannidis George Paraskevas Stavros Chatzopoulos Anastasios Kotronis Nikolaos Papadimitriou Athina Konstantara Apostolos Makrantonakis Emmanouil Kakoutis Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X Revista Espanola de Enfermedades Digestivas Adenomatous polyposis coli Colorectal cancer Fibromatosis Mutation |
| author_facet |
Orestis Ioannidis George Paraskevas Stavros Chatzopoulos Anastasios Kotronis Nikolaos Papadimitriou Athina Konstantara Apostolos Makrantonakis Emmanouil Kakoutis |
| author_sort |
Orestis Ioannidis |
| title |
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X |
| title_short |
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X |
| title_full |
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X |
| title_fullStr |
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X |
| title_full_unstemmed |
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X |
| title_sort |
multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel w421x mutation tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación w421x |
| publisher |
Aran Ediciones |
| series |
Revista Espanola de Enfermedades Digestivas |
| issn |
1130-0108 |
| publishDate |
2012-03-01 |
| description |
Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors. |
| topic |
Adenomatous polyposis coli Colorectal cancer Fibromatosis Mutation |
| url |
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082012000300009 |
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