Human microRNA expression in sporadic and FAP-associated desmoid tumors and correlation with beta-catenin mutations.

Desmoid tumors (DT) are rare, benign, fibroblastic neoplasm with challenging histological diagnosis. DTs can occur sporadically or associated with the familial adenomatous polyposis coli (FAP). Most sporadic DTs are associated with ß-catenin gene (CTNNB1) mutations, while mutated APC gene causes FAP disease. microRNAs (miRNAs) are involved in many human carcinogenesis.The miRNA profile was analyzed by microarray in formalin-fixed, paraffin-embedded (FFPE) specimens of 12 patients (8 sporadic, 4 FAP-associated) and 4 healthy controls. One hundred and one mRNAs resulted dysregulated, of which 98 in sporadic DTs and 8 in FAP-associated DTs, 5 were shared by both tumors. Twenty-six miRNAs were then validated by RT-qPCR in 23 sporadic and 7 FAP-associated DT samples matched with healthy controls. The qPCR method was also used to evaluate the CTNNB1 mutational status in sporadic DTs. The correlation between sporadic DTs and miRNA expression showed that miR-21-3p increased in mutated versus wild-type DTs, while miR-197-3p was decreased. The mRNA expression of Tetraspanin3 and Serpin family A member 3, as miR-21-3p targets, and L1 Cell Adhesion Molecule, as miR-197-3p target, was also evaluate. CTNNB1 mutations associated to miRNA dysregulation could affect the genesis and the progression of this disease and help histological diagnosis of sporadic DTs.

Coloanal anastomosis or abdominoperineal resection for very low rectal cancer: what will benefit, the surgeon's pride or the patient's quality of life?

PURPOSES: Sphincter-saving operation with coloanal anastomosis (CAA) has become an established option for very low rectal cancer, but few studies have compared its functional results and quality of life (QoL) with abdominoperineal resection (APR) showing controversial results. PATIENTS AND METHODS: Patients treated for low rectal cancer with APR or CAA, disease-free after a median follow-up period of 26.5 (8-84) and 52.5 (12-156) months, respectively, were retrospectively reviewed. General and disease-specific changes in QoL and severity of disease were evaluated by Karnofsky scale, EORTC-C30, EORTC-CR38, SF-36, PGWBI, FIQL, PAC-QoL, ICIQ-SF, Stoma-QoL, AMS, Wexner's score and obstructed defecation syndrome (ODS) score. RESULTS: Twenty-six APR patients and 34 CAA patients entered the study. Karnofsky score did not show significant differences. The median Stoma-QoL was 58.2 (45-76.6), indicating a good stoma function in 95% of patients. EORTC-C30, CR38, PGWBI and SF-36 questionnaires did not show significant differences between the two groups except for sexual function (better after CAA, p = 0.01). Eleven patients after APR and eight after CAA had urinary incontinence, and its severity did not differ significantly. Eighteen of 21 CAA patients complained of faecal incontinence [AMS, 80 (15-120); Wexner, 13 (2-19)] with an impact on their QoL [FIQL: lifestyle, 1.75 (0-4); coping/behaviour, 1.3 (0-3.5); depression, 2.1 (0-5.2); embarrassment, 2 (0-4.6)] and 11 complained of obstructed defecation [7.5 (3-16)] with significant consequences on QoL [PAC-QoL, 30.4 (19.2-80.3)]. CONCLUSIONS: QoL in patients with permanent stoma and in those after CAA did not differ significantly. APR patients had worse sexual function, while most CAA patients had faecal incontinence and sometime obstructed defecation, with important impact on their QoL.