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Signoroni S.,Foundation Medicine | Vitellaro M.,Unit of Colorectal Surgery | Sala P.,Foundation Medicine | Bertario L.,Foundation Medicine
Frontiers in Bioscience - Scholar | Year: 2010

A biomarker, according to a generally accepted definition, is a substance or a manifestation used as indicator of a biologic state. It has the characteristic to be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacological responses to therapeutic interventions. Biomarkers are important tools available to the clinicians with escalating perspectives in oncologic field. Clinical and genetic biomarkers are essential to properly individuate the disease, to address patients to specific surveillance programs and therapeutic strategies. An ideal biomarker should be absent in normal tissue/condition but present in precancerous lesions like dysplasia and so able to recognize early cancer. Coming from these considerations, several of the known genetic pathways in cancer pathogenesis could be considerate potential candidate biomarkers. In this review, we have reported clinical and molecular biomarkers helpful to manage the Familial Adenomatous Polyposis (FAP), a dominantly inherited colorectal cancer predisposition syndrome. Biomarkers, both clinical and molecular, are essential to reduce the high potential morbidity of FAP giving the opportunity to develop innovative diagnostic and therapeutic protocols.

Reid J.F.,Fondazione Istituto Nazionale Dei Tumori | Sokolova V.,Fondazione Istituto Nazionale Dei Tumori | Zoni E.,Fondazione Istituto Nazionale Dei Tumori | Lampis A.,Fondazione Istituto Nazionale Dei Tumori | And 11 more authors.
Molecular Cancer Research | Year: 2012

Altered expression of miRNAs is associated with development and progression of various human cancers by regulating the translation of oncogenes and tumor suppressor genes. In colorectal cancer, these regulators complement the Vogelstein multistep model of pathogenesis and have the potential of becoming a novel class of tumor biomarkers and therapeutic targets. Using quantitative real-time PCR, we measured the expression of 621 mature miRNAs in 40 colorectal cancers and their paired normal tissues and identified 23 significantly deregulated miRNAs. We subsequently evaluated their association with clinical characteristics of the samples and presence of alterations in the molecular markers of colorectal cancer progression. Expression levels of miR-31 were correlated with CA19-9 and miR-18a, miR-21, and miR-31 were associated with mutations in APC gene. To investigate the downstream regulation of the differentially expressed miRNAs identified, we integrated putative mRNA target predictions with the results of a meta-analysis of seven public gene expression datasets of normal and tumor samples of colorectal cancer patients. Many of the colorectal cancer deregulated miRNAs computationally mapped to targets involved in pathways related to progression. Here one promising candidate pair (miR-1 and MET) was studied and functionally validated. We show that miR-1 can have a tumor suppressor function in colorectal cancer by directly downregulating MET oncogene both at RNA and protein level and that reexpression of miR-1 leads to MET-driven reduction of cell proliferation and motility, identifying the miR-1 downmodulation as one of the events that could enhance colorectal cancer progression. ©2012 AACR.

Gomes R.M.,Unit of Colorectal Surgery | Kumar R.K.,Tata Memorial Hospital | Desouza A.,Unit of Colorectal Surgery | Saklani A.,Unit of Colorectal Surgery
Annals of Gastroenterology | Year: 2014

Implantation metastasis from a colorectal cancer into a perianal fistula is very rare. Such lesions are commonly mistaken as benign perianal abscesses or fistulas and diagnosed only after pathological analysis of surgically excised fistulas. Once diagnosed, the management of this condition remains controversial. We report a case of perianal fistula that was unexpectedly found to harbor adenocarcinoma on biopsy. Further investigation by colonoscopy and computed tomography scan revealed a sigmoid adenocarcinoma. Abdominoperineal resection was performed. Histology and immunohistochemical staining was identical in both primary and metastatic tumors. We herein review the literature on the metastasis of colorectal cancer to a benign perianal fistula presumably acquired through implantation of viable malignant cells shed from the primary tumor and discuss the approach to this rare scenario in colorectal cancer surgery. © 2014 Hellenic Society of Gastroenterology.

Sinukumar S.,Unit of Colorectal Surgery | Gomes R.M.,Unit of Colorectal Surgery | Kumar R.K.,Tata Memorial Hospital | Desouza A.,Unit of Colorectal Surgery | Saklani A.,Unit of Colorectal Surgery
Indian Journal of Surgical Oncology | Year: 2014

Mesenteric fibromatosis is an uncommon tumour which is locally aggressive without any metastatic potential and can occur as a sporadic event or in association with familial adenomatous polyposis syndrome. Giant mesenteric fibromatosis is very rare and is a diagnostic and therapeutic challenge. This is a case report of a rare presentation of deep fibromatosis as a sporadic giant intrabdominal mesenteric tumour in a 29 year old male managed by surgical excision and definitive diagnosis made on the basis of immunohistochemical findings. © 2014, Indian Association of Surgical Oncology.

Hidalgo-Grau L.A.,Unit of Colorectal Surgery | Llorca-Cardenosa S.,Unit of Colorectal Surgery | Heredia-Budo A.,Unit of Colorectal Surgery | Estrada-Ferrer O.,Unit of Colorectal Surgery | And 3 more authors.
Colorectal Disease | Year: 2014

Aim: The aim of this study was to evaluate the effectiveness of stapled anopexy (SA) in patients with chronic bleeding haemorrhoids and secondary anaemia. Method: Our department performed 340 SA procedure per patient for haemorrhoids between January 1999 and December 2011. Fifty (14.7%) of these patients (25 male patients and 25 female patients) had anaemia (haemoglobin concentration < 13 g/dl in male patients and < 12 g/dl in female patients) secondary to chronic haemorrhoidal bleeding. Patients with colorectal bleeding and anaemia not caused by haemorrhoids were excluded. The mean (SD) age was 56.4 (13.9) years and the mean (SD) haemoglobin concentration was 9.2 (1.6) g/dl for male patients and 10.4 (1.2) g/dl for female patients. Five (10%) patients with anaemia had Grade II, 22 (44%) had Grade III and 23 (46%) had Grade IV haemorrhoids. The median (range) duration of postoperative follow-up was six (1-12) years. Results: None of the patients required early postoperative admission or experienced early or late complications related to SA. The procedure was successful (normal haemoglobin concentration and no bleeding at 6 months postsurgery) in 45 (90%) patients. Of the five (10%) patients in whom SA was ineffective, one had Grade II, three had Grade III and one had Grade IV haemorrhoids. All these patients underwent Milligan-Morgan haemorrhoidectomy 3 months after SA. Conclusion: SA is an effective treatment for patients with bleeding haemorrhoids and subsequent anaemia. In our experience, the success rate was satisfactory and there were no serious complications. © 2014 The Association of Coloproctology of Great Britain and Ireland.

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