RET-protooncogene variants in patients with sporadic neoplasms of the digestive tract and the central nervous system.


PURPOSE:The RET protooncogene plays a crucial role in neural crest development; accordingly, mutations of RET cause MEN2A and familial medullary thyroid carcinoma, while the expression deregulation of RET is involved in the pathophysiology of glioblastoma multiforme (GBM) and pancreatic cancer (PDAC). The aim of this study was to evaluate if germline variants of the RET protooncogene are associated with GBM, pancreatic cancer and gastric cancer (GC). METHODS:Genomic DNA from peripheral blood was isolated from 100 patients with GBM, 65 patients with GC and 54 patients with PDAC. The coding sequence of RET promoter, exon 2 and exon 13 was amplified. Sequence variations at -5 and -1 in the promotor and in exon 2 were determined through a LightCycler assay, and analysis of exon 13 was carried out by genomic sequencing. RESULTS:There was no significant association of the RET-promoter or exon 2 genotypes with the phenotype in the different populations, although there was an increase of the GG genotype of the -5G>A variant in all cancers compared to controls. Sequencing of exon 13 identified mutation c.2372A>T in codon 791 (Y791F) in heterozygous state in one of 100 GBM patients, in two of 65 patients with gastric cancer, in two of 54 PDAC patients and in none of the controls. CONCLUSIONS:Although our data did not reach significance in our small cohorts, we cannot rule out the involvement of the -5G promoter allele and the c.2372A>T mutation in the development of the aforementioned tumours.


Int J Colorectal Dis


Rückert F,Görgens H,Richter I,Krex D,Schackert G,Kuhlisch E,Fitze G,Saeger HD,Pilarsky C,Grützmann R,Schackert HK




Has Abstract


2011-07-01 00:00:00












  • Benefits of laparoscopic peritoneal lavage for complicated sigmoid diverticulitis.

    abstract:BACKGROUND:The traditional therapy for perforated sigmoid diverticulitis with peritonitis is emergency colectomy usually with colostomy. We report laparoscopic exploration with peritoneal lavage as an alternative in seven patients who required emergency surgery for diverticulitis. METHODS:Six patients presented with d...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Favuzza J,Friel JC,Kelly JJ,Perugini R,Counihan TC

    更新日期:2009-07-01 00:00:00

  • Next-generation narrow band imaging system for colonic polyp detection: a prospective multicenter randomized trial.

    abstract:PURPOSE:Previous studies have yielded conflicting results on the colonic polyp detection rate with narrow-band imaging (NBI) compared with white-light imaging (WLI). We compared the mean number of colonic polyps detected per patient for NBI versus WLI using a next-generation NBI system (EVIS LUCERA ELITE; Olympus Medic...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Horimatsu T,Sano Y,Tanaka S,Kawamura T,Saito S,Iwatate M,Oka S,Uno K,Yoshimura K,Ishikawa H,Muto M,Tajiri H

    更新日期:2015-07-01 00:00:00

  • Preoperative chemoradiotherapy changes the size criterion for predicting lateral lymph node metastasis in lower rectal cancer.

    abstract:PURPOSE:The purpose of this study was to identify the size criteria of lateral lymph node metastasis in lower rectal cancer both in patients who underwent preoperative CRT and those who did not. METHODS:This study enrolled 150 patients who underwent resection for primary lower rectal adenocarcinoma with lateral lymph ...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Yamaoka Y,Kinugasa Y,Shiomi A,Yamaguchi T,Kagawa H,Yamakawa Y,Numata M,Furutani A

    更新日期:2017-11-01 00:00:00

  • Colonoscopy screening for individuals aged 40-49 years with a family history of stomach cancer in Korea.

    abstract:BACKGROUND:For asymptomatic individuals aged 40-49 years, screening for colorectal cancer is recommended only if individuals are at an increased risk. A family history of colon cancer (FHCRC) is considered to increase risk, however, whether family history of stomach cancer (FHSC) increases the risk of adenoma is not we...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Choi YS,Suh JP,Lee DS,Youk EG,Lee IT,Lee SH,Kim DS,Lee DH

    更新日期:2010-04-01 00:00:00

  • Robotic rectal cancer surgery in obese patients may lead to better short-term outcomes when compared to laparoscopy: a comparative propensity scored match study.

    abstract:PURPOSE:Laparoscopic rectal surgery in obese patients is technically challenging. The technological advantages of robotic instruments can help overcome some of those challenges, but whether this translates to superior short-term outcomes is largely unknown. The aim of this study is to compare the short-term surgical ou...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Panteleimonitis S,Pickering O,Abbas H,Harper M,Kandala N,Figueiredo N,Qureshi T,Parvaiz A

    更新日期:2018-08-01 00:00:00

  • The factors influencing long-term outcomes of stenting for malignant colorectal obstruction in elderly group in community medicine.

    abstract:PURPOSE:Malignant bowel obstruction is a complication of colorectal carcinoma or metastasis from other carcinoma, and it causes significant damage on the condition of elderly patients; however, the self-expandable metallic stents (SEMSs) have been effectively used either for palliation or for bridging to the surgical p...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Imai M,Kamimura K,Takahashi Y,Sato T,Isokawa O,Maruyama M,Kobayashi T,Hayashi K,Terai S

    更新日期:2018-02-01 00:00:00

  • Efficacy of screening using annual fecal immunochemical test alone versus combined with one-time colonoscopy in reducing colorectal cancer mortality: the Akita Japan population-based colonoscopy screening trial (Akita pop-colon trial).

    abstract:PURPOSE:Screening programs using fecal occult blood testing help reduce mortality from colorectal cancer (CRC). Colonoscopy and colonoscopy combined with fecal occult blood testing are considered alternatives with higher sensitivity than fecal tests; however, to our knowledge, randomized controlled trials (RCTs) provid...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Saito H,Kudo SE,Takahashi N,Yamamoto S,Kodama K,Nagata K,Mizota Y,Ishida F,Ohashi Y

    更新日期:2020-05-01 00:00:00

  • IL6 genetic variants haplotype is associated with susceptibility and disease activity but not with therapy response in patients with inflammatory bowel disease.

    abstract:PURPOSE:The aim of the present study was to evaluate the IL6 -174 G>C (rs1800795) and -572 G>C (rs1800796) genetic variants and their association with inflammatory bowel diseases (IBDs), disease activity, and response to TNF-α inhibitors. METHODS:The study included 178 patients with IBD and 224 healthy controls. Among...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Gonçalves BP,Flauzino T,Inoue CJ,de Paula JCC,Galvão TC,de Alcantara CC,Miyazaki PK,Rosa L,Westmore S,Lozovoy MAB,Reiche EMV,Simão ANC

    更新日期:2021-02-01 00:00:00

  • Skeletal muscle mass and quality as risk factors for postoperative outcome after open colon resection for cancer.

    abstract:BACKGROUND:The prevalence of colorectal cancer in the elderly is increasing and, therefore, surgical interventions with a risk of potential complications are more frequently performed. This study investigated the role of low skeletal muscle mass (sarcopenia), muscle quality, and the sarcopenic obesity as prognostic fac...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Boer BC,de Graaff F,Brusse-Keizer M,Bouman DE,Slump CH,Slee-Valentijn M,Klaase JM

    更新日期:2016-06-01 00:00:00

  • Erectile and urinary function in men with rectal cancer treated by neoadjuvant chemoradiotherapy and neoadjuvant chemotherapy alone: a randomized trial report.

    abstract:OBJECTIVE:The aim was to evaluate erectile and urinary function of male patients with rectal cancer treated by neoadjuvant (NA) chemoradiotherapy (CRT) or NA chemotherapy only. METHODS:In this prospective randomized trial ( NCT01211210; "FOWARC"), we included 102 men who received NA therapy for stage...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章,随机对照试验


    authors: Huang M,Lin J,Yu X,Chen S,Kang L,Deng Y,Zheng J,Luo Y,Wang L,Lan P,Wang J

    更新日期:2016-07-01 00:00:00

  • Indocyanine green fluorescent imaging on anastomotic leakage in colectomies: a network meta-analysis and systematic review.

    abstract:PURPOSE:The usage of indocyanine green (ICG) dye is commonly associated with decreased anastomotic leakage rates in colectomies. This study aims to perform a network meta-analysis to assess the usage of ICG fluorescence imaging in right-sided colectomies. METHODS:Medline, Embase, Cochrane Trials, CNKI, and WanFang ele...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Mok HT,Ong ZH,Yaow CYL,Ng CH,Buan BJL,Wong NW,Chong CS

    更新日期:2020-12-01 00:00:00

  • Timing of surgery in ulcerative colitis in the biologic therapy era-the patient's perspective.

    abstract:BACKGROUND:There is no general consensus regarding the ideal timing of surgery in patients with refractory ulcerative colitis (UC). Decision-making and timing of restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is influenced by treating physicians and patients themselves. The aim of this study was t...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Gröne J,Lorenz EM,Seifarth C,Seeliger H,Kreis ME,Mueller MH

    更新日期:2018-10-01 00:00:00

  • Palliative cryosurgery for rectal carcinoma.

    abstract::Cryosurgery is one of the palliative treatment options to decrease local symptoms due to rectal carcinoma. A total of 106 patients (aged 45-92 years) underwent palliative cryosurgery for primary rectal cancer. Inclusion criteria were prohibitive surgical risk, unresectability, distant metastases, patient refusal of su...

    journal_title:International journal of colorectal disease

    pub_type: 临床试验,杂志文章


    authors: Meijer S,Rahusen FD,van der Plas LG

    更新日期:1999-08-01 00:00:00

  • Outpatient, non-antibiotic management in acute uncomplicated diverticulitis: a prospective study.

    abstract:PURPOSE:The aim of this study was to evaluate outpatient, non-antibiotic management in acute uncomplicated diverticulitis with regard to admissions, complications, and recurrences, within a 3-month follow-up period. METHODS:A prospective, observational study in which patients with computer tomography-verified acute un...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Isacson D,Thorisson A,Andreasson K,Nikberg M,Smedh K,Chabok A

    更新日期:2015-09-01 00:00:00

  • Nonoperative management of perforated acute diverticulitis with extraluminal air: results and risk factors of failure.

    abstract:AIM:The aim of this study was to analyze the results of nonoperative management of patients with perforated acute diverticulitis with extraluminal air and to identify risk factors that may lead to failure and necessity of surgery. METHODS:Methods included observational retrospective cohort study of patients between 20...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Titos-García A,Aranda-Narváez JM,Romacho-López L,González-Sánchez AJ,Cabrera-Serna I,Santoyo-Santoyo J

    更新日期:2017-10-01 00:00:00

  • The effect of oral tolerance on the roles of small intestinal intraepithelial lymphocytes in murine colitis induced by dextran sodium sulfate.

    abstract:BACKGROUNDS AND AIMS:There is increasing evidence that gut-derived intraepithelial lymphocytes have potent cytolytic and immunoregulatory functions, which they use to sustain epithelial integrity. The aims of this study were to investigate the roles of small intestinal intraepithelial lymphocytes (SI-IELs) in oral tole...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Ye Y,Yue M,Jin X,Chen S,Li Y

    更新日期:2012-05-01 00:00:00

  • Chronic posterior tibial nerve transcutaneous electrical nerve stimulation (TENS) to treat fecal incontinence (FI).

    abstract:AIM:Transcutaneous electrical nerve stimulation (TENS) is a possible alternative to sacral nerve stimulation because the neurophysiologic targets might be similar but the former method is non-invasive and cheaper. The aim of the study was to assess both symptom and quality of life (QoL) improvements in patients sufferi...

    journal_title:International journal of colorectal disease

    pub_type: 临床试验,杂志文章


    authors: Eléouet M,Siproudhis L,Guillou N,Le Couedic J,Bouguen G,Bretagne JF

    更新日期:2010-09-01 00:00:00

  • Hartmann's procedure in rectal cancer: a population-based study of postoperative complications.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Sverrisson I,Nikberg M,Chabok A,Smedh K

    更新日期:2015-02-01 00:00:00

  • Strictureplasty for ileo-colic anastomotic strictures in Crohn's disease.

    abstract::We report an audit of outcome on 24 patients (16 females) who had a strictureplasty to treat ileo-colic anastomotic strictures. All except one patient had their original resection for Crohn's disease, and required reoperation because of symptoms of recurrent intestinal obstruction for a mean 9.3 months (range 1-36); t...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Sharif H,Alexander-Williams J

    更新日期:1991-11-01 00:00:00

  • Involvement of AP-1 proteins in pancreatic stellate cell activation in vitro.

    abstract:BACKGROUND AND AIMS:Pancreatic stellate cells (PSCs) play a key role in the development of pancreatic fibrosis. The molecular mechanisms underlying their activation in response to profibrogenic mediators, however, are largely unknown. Extending previous studies on the transcriptional regulation of PSC activation, we ha...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Fitzner B,Sparmann G,Emmrich J,Liebe S,Jaster R

    更新日期:2004-09-01 00:00:00

  • Disease severity and treatment requirements in familial inflammatory bowel disease.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Ballester MP,Martí D,Tosca J,Bosca-Watts MM,Sanahuja A,Navarro P,Pascual I,Antón R,Mora F,Mínguez M

    更新日期:2017-08-01 00:00:00

  • The clinical significance of extraluminal air in Hinchey 1a diverticulitis: results from a retrospective cohort study with 10-year follow-up.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Meyer J,Caruso A,Roos E,Balaphas A,Toso C,Poletti PA,Ris F,Buchs NC

    更新日期:2019-12-01 00:00:00

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Miura S,Kodaira S,Aoki H,Hosoda Y

    更新日期:1996-01-01 00:00:00

  • Focus on current and future management possibilities in inflammatory bowel disease-related chronic pain.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章,评审


    authors: Zielińska A,Sałaga M,Włodarczyk M,Fichna J

    更新日期:2019-02-01 00:00:00

  • Extrarenal retroperitoneal angiomyolipoma: management of a rare benign tumour.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Neary P,Mathews R,Harries R,McDonald A,Monson JR

    更新日期:2003-11-01 00:00:00

  • Molecular profiles and clinical outcome of stage UICC II colon cancer patients.

    abstract:PURPOSE:Published multigene classifiers suggesting outcome prediction for patients with stage UICC II colon cancer have not been translated into a clinical application so far. Therefore, we aimed at validating own and published gene expression signatures employing methods which enable their reconstruction in routine di...

    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Gröne J,Lenze D,Jurinovic V,Hummel M,Seidel H,Leder G,Beckmann G,Sommer A,Grützmann R,Pilarsky C,Mansmann U,Buhr HJ,Stein H,Hummel M

    更新日期:2011-07-01 00:00:00

  • Dynamic magnetic resonance imaging evaluation of pelvic reconstruction with porcine dermal collagen mesh following extra-levator abdominoperineal excision for primary rectal cancer.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Dinnewitzer A,Meissnitzer M,Meissnitzer T,Nawara C,Augschöll C,Buchner S,Mayer F,Öfner D

    更新日期:2015-04-01 00:00:00

  • Overlapping anal sphincter repair for faecal incontinence due to sphincter trauma: five year follow-up functional results.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Londono-Schimmer EE,Garcia-Duperly R,Nicholls RJ,Ritchie JK,Hawley PR,Thomson JP

    更新日期:1994-05-01 00:00:00

  • Ultrasound-guided pudendal nerve block in patients undergoing open hemorrhoidectomy: a double-blind randomized controlled trial.

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Di Giuseppe M,Saporito A,La Regina D,Tasciotti E,Ghielmini E,Vannelli A,Pini R,Mongelli F

    更新日期:2020-09-01 00:00:00

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    journal_title:International journal of colorectal disease

    pub_type: 杂志文章


    authors: Ritz JP,Runkel N,Haier J,Buhr HJ

    更新日期:1998-01-01 00:00:00