Literature DB >> 27844202

Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms?

Rumi Shin1, Hwan-Seong Cho2, Duck-Woo Kim3,4, So Yeon Ahn5, Myong Hoon Ihn6, Hyo Jin Park7, Heung-Kwon Oh8, Sung-Bum Kang8.   

Abstract

PURPOSE: Desmoid tumor (DT) is a rare myofibroblastic proliferative neoplasm, but can occur in up to 26% of patients with familial adenomatous polyposis (FAP). Therefore, DT may be an extraintestinal manifestation of FAP that precedes the development of advanced malignancies. The aim of this study was to identify the incidence of polyps in DT patients and investigate value of colonoscopy for diagnosis of FAP in DT patients without gastrointestinal symptoms.
MATERIALS AND METHODS: The records of patients diagnosed with DT were retrospectively reviewed using the clinical data warehouse (CDW) system. Clinical data, including location of tumor, type(s) of treatment, and colonoscopic findings, were collected.
RESULTS: Sixty-five patients were diagnosed with DT during the study period; 10 patients received colonoscopies before diagnosis of DT, and 20 patients received colonoscopies after diagnosis of DT. The mean age at diagnosis of DT was 41.9 ± 16.7 years old (range 17-74). Most tumors were extra-abdominal (n = 24, 80.0%), and fewer were intra-abdominal (n = 4, 13.3%) or in an abdominal wall (n = 2, 6.7%). The colonoscopy results revealed one or two tubular adenomas in 11 patients (36.6%), although none of the patients had colorectal polyposis or colorectal cancer.
CONCLUSION: None of the patients in our study population had colorectal polyposis. Routine colonoscopy of DT patients without gastrointestinal symptoms seems to have low diagnostic yield for detection of FAP.

Entities:  

Keywords:  Adenomatous polyposis coli; Colonoscopy; Desmoid disease

Mesh:

Year:  2016        PMID: 27844202     DOI: 10.1007/s00384-016-2701-8

Source DB:  PubMed          Journal:  Int J Colorectal Dis        ISSN: 0179-1958            Impact factor:   2.571


  11 in total

1.  Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999.

Authors:  Taya Fallen; Marcia Wilson; Bruce Morlan; Noralane M Lindor
Journal:  Fam Cancer       Date:  2006       Impact factor: 2.375

2.  A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses.

Authors:  Marry H Nieuwenhuis; Mariel Casparie; Lisbeth M H Mathus-Vliegen; Olaf M Dekkers; Pancras C W Hogendoorn; Hans F A Vasen
Journal:  Int J Cancer       Date:  2010-11-03       Impact factor: 7.396

3.  Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study.

Authors:  Marry H Nieuwenhuis; Jérémie H Lefevre; Steffen Bülow; Heikki Järvinen; Lucio Bertario; Solen Kernéis; Yann Parc; Hans F A Vasen
Journal:  Dis Colon Rectum       Date:  2011-10       Impact factor: 4.585

4.  Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP.

Authors:  Rachel A Levy; Vanessa W Hui; Rupa Sood; Stephanie Fish; Arnold J Markowitz; Richard J Wong; José G Guillem
Journal:  Fam Cancer       Date:  2014-12       Impact factor: 2.375

5.  Risk factors for development of desmoid tumours in familial adenomatous polyposis.

Authors:  J H Lefevre; Y Parc; S Kernéis; N Goasguen; M Benis; R Parc; E Tiret
Journal:  Br J Surg       Date:  2008-09       Impact factor: 6.939

6.  Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.

Authors:  Alexander J F Lazar; Daniel Tuvin; Shohrae Hajibashi; Sultan Habeeb; Svetlana Bolshakov; Empar Mayordomo-Aranda; Carla L Warneke; Dolores Lopez-Terrada; Raphael E Pollock; Dina Lev
Journal:  Am J Pathol       Date:  2008-10-02       Impact factor: 4.307

7.  Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Reiner Caspari; Elisabeth Mangold; Constanze Pagenstecher; Peter Propping; Waltraut Friedl
Journal:  Eur J Hum Genet       Date:  2004-01       Impact factor: 4.246

8.  Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients.

Authors:  M H Nieuwenhuis; E M Mathus-Vliegen; C G Baeten; F M Nagengast; J van der Bijl; A D van Dalsen; J H Kleibeuker; E Dekker; A M Langers; J Vecht; F T Peters; R van Dam; W G van Gemert; W N Stuifbergen; W R Schouten; H Gelderblom; H F A Vasen
Journal:  Br J Cancer       Date:  2010-11-09       Impact factor: 7.640

Review 9.  Extra-intestinal manifestations of familial adenomatous polyposis.

Authors:  Emma J Groen; Annemieke Roos; Friso L Muntinghe; Roelien H Enting; Jakob de Vries; Jan H Kleibeuker; Max J H Witjes; Thera P Links; André P van Beek
Journal:  Ann Surg Oncol       Date:  2008-07-09       Impact factor: 5.344

10.  Guidelines for the clinical management of familial adenomatous polyposis (FAP).

Authors:  H F A Vasen; G Möslein; A Alonso; S Aretz; I Bernstein; L Bertario; I Blanco; S Bülow; J Burn; G Capella; C Colas; C Engel; I Frayling; W Friedl; F J Hes; S Hodgson; H Järvinen; J-P Mecklin; P Møller; T Myrhøi; F M Nagengast; Y Parc; R Phillips; S K Clark; M Ponz de Leon; L Renkonen-Sinisalo; J R Sampson; A Stormorken; S Tejpar; H J W Thomas; J Wijnen
Journal:  Gut       Date:  2008-01-14       Impact factor: 23.059

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  1 in total

Review 1.  Early-onset colorectal cancer in young individuals.

Authors:  Gianluca Mauri; Andrea Sartore-Bianchi; Antonio-Giampiero Russo; Silvia Marsoni; Alberto Bardelli; Salvatore Siena
Journal:  Mol Oncol       Date:  2018-12-22       Impact factor: 6.603

  1 in total

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