Alberto Bravo-Gutiérrez

Impact of the MTHFR C677T polymorphism on colorectal cancer in a population with low genetic variability

PurposesMethylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism, and folate is implicated in carcinogenesis by its role in DNA methylation, repair, and synthesis. We analyzed the impact of MTHFR C677T polymorphism in colorectal cancer in a region of the Tenerife Island whose population has a history of genetic isolation and a low genetic variability. This allows analyzing the effects of the polymorphism that are not due to interactions with different genetic variants.MethodsGenomic DNA of 50 Spanish sporadic colorectal cancer (CRC) patients and 103 controls was analyzed by PCR/RFLP and sequencing.ResultsThe T allele is more frequent in controls than in patients (P < 0.01). The variant (T) carriers displayed significant odds ratio values for the CT heterozygotes (P = 0.026) and even when grouping heterozygote (CT) and homozygotes (TT) (P = 0.015). Patients carriers of the variant T (CT y TT) show a higher survival rate after chemotherapy than the CC homozygotes (log rank; P = 0.001).ConclusionsThe MTHRF C677T variant has a protective effect on CRC development in a population with low allelic variability and an optimal intake of folic acid. Moreover, patients carrying the variant (T) show a better prognosis after 5-fluorouracil/folinic acid-based chemotherapy.

El íleo biliar como causa de abdomen agudo. Importancia del diagnóstico precoz para el tratamiento quirúrgico

Gallstone ileus is an uncommon type of mechanical intestinal obstruction caused by an intraluminal gallstone, and preoperative diagnosis is difficult in the Emergency department. This study is a retrospective analysis of the clinical presentation of 5 patients with gallstone ileus treated between 2000-2010. Clinical features, diagnostic testing, and surgical treatment were analyzed. Five patients were included: 2 cases showed bowel obstruction; 2 patients presented a recurrent gallstone ileus with prior surgical intervention; and one patient presented acute peritonitis due to perforation of an ileal diverticula. In all cases CT confirmed the preoperative diagnosis. In our experience, gallstone ileus may present with clinical features other than intestinal obstruction. In suspicious cases CT may be useful to decrease diagnostic delay, which is associated with more complications.

Metastatic lymphs nodes and lymph node ratio as predictive factors of survival in perforated and non-perforated T4 colorectal tumors.

Recently it has been hypothesized that perforation of colorectal cancer (CRC) itself is not a predictor of poor prognosis. The aim of this study was to analyze the prognostic impact, of the spontaneous perforation of the tumour, metastatic lymph nodes and lymph node ratio (LNR) after potentially curative surgery.

Predictive factors of years of potential life lost by colorectal cancer

Objective To evaluate the impact of colorectal cancer (CRC) by estimating the years of potential life lost (YPLL) by this neoplasm in a cohort of patients, as well as to define the predictive factors of YPLL. Methods A descriptive cross-sectional study of 980 consecutive patients diagnosed and treated because of CRC in our institution between 1985 and 2002 was carried out. Demographic, clinical, pathological, surgical, hospital stay, complications, and mortality variables were recorded. The primary endpoint of this study was to calculate individual YPLL. Univariate analysis was performed to compare each independent variable with the variable YPLL. All clinically relevant variables significantly associated with YPLL were included in an ordinal regression model to identify independent factors prognostic of YPLL. Results The final study sample was 794 patients, 413 (52%) men and 381 (48%) women, mean age 65.3 years [confidence interval (CI) 95%: 64.4–66.2 years; SD: 12.8]. The mean global YPLL for the 351 patients who died of CRC was 15.2 years (SD: 10.7; CI 95%: 14.1–16.3). Lower age [odds ratio (OR)=0.98; CI 95%: 0.97–0.98], male sex (OR=1.19; CI 95%: 1.00–1.43), lower tumor, nodes, metastasis (TNM) stage (OR=0.29; CI 95%: 0.24–0.35), and rectum localization of the tumor (OR=1.37; CI 95%: 1.14–1.64) were independent prognostic factors for YPLL. Conclusion In our community, the mean number of YPLL by CRC exceeds 15 years. Lower age, male sex, higher TNM stage, and rectum localization are negative predictors of YPLL.

Enterolitotomía más colecistectomía precoz, una aplicación de cirugía de control de daños para pacientes con íleo biliar

BACKGROUND Recurrent gallstone ileus is an uncommon mechanical intestinal obstruction secondary to occlusion of the intestine by an intraluminal biliary calculus. CLINICAL CASE Female, 75 years old, ischaemic heart disease (stent), arrived in our department complaining of abdominal pain and vomiting. Computed tomography showed gallstone ileus. The patient underwent an enterotomy with gallstone removal. Three months later, the patient came back with the same clinical symptoms and signs. A new computed tomography highlighted a gallstone ileus again. Enterolithotomy and gallstone removal, cholecystectomy and closure of cholecystoduodenal fistula were performed. The patient had a prolonged hospital stay due to the development of congestive heart failure. Case 2. Male, 71 years old, ischaemic heart disease and aortocoronary bypass, seen in our department complaining of vomiting. Computed tomography showed aerobilia and gallstone ileus. The patient underwent an urgent enterolithotomy. Seven months later, the patient came back with the same clinical symptoms and signs. Computed tomography showed a new gallstone ileus. An enterotomy and gallstone removal, cholecystectomy and closure of cholecystoduodenal fistula were performed. The patient died due to multi-organ failure in post-surgery period. CONCLUSION In the elderly patients with concomitant medical illnesses with the risk of a second laparotomy, it is justifiable to reconsider the definitive repair in the treatment of gallstone ileus. The enterolithotomy in acute phase followed by early cholecystectomy (4-8 weeks) may be a safe method for eliminating, not only the possibility of recurrent gallstone ileus, and probably the need for a second laparotomy, but also the exceptional possibility of developing a gallbladder carcinoma.

Clinicopathological differences between familial Colorectal Cancer Type X and sporadic cancer in an isolated area of Spain

Very few studies have compared the epidemiological characteristics of patients with familial colorectal cancer Type X (FCCTX) with those of sporadic colorectal cancer (S‐CRC). The aim of this study was to compare clinicopathological characteristics and survival between FCCTX and S‐CRC in patients from a historically isolated geographical region.

Carbón activado en la cavidad peritoneal

We completely agree with the statements by Nogué et al. Our case seems to have originated with the placement of a nasogastric tube, a previously injured gastric cavity and an attempt at decontamination in a therapeutic interval that was a priori out of range. For years, our group has been advising against both the indication as well as the use of routine decontamination measures due to potential iatrogenesis, which is probably underreported. In any event, given the possibility that similar unfortunate episodes may continue to occur, we feel the need to insist to surgeons that, in spite of a thorough initial surgical abdominal lavage, these patients require strict monitoring after the surgical intervention, as new episodes of peritonitis are foreseeable given the extensive diffusion of AC in the peritoneal cavity.

Tumor anal gigante

The patient is a 52-year-old male with an anal tumor that had been progressing for the previous 6 months. The patient reported a weight loss of 20 kg, pain and local bleeding. Upon exploration, a 20 cm 18 cm exophytic mass was observed at the anal margin, which was ulcerated and discharged a purulent liquid (Fig. 1). Computed tomography revealed an extensive pelvic mass, with no infiltration of the rectal wall (Fig. 2). Abdominoperineal amputation was performed, followed by radiotherapy. The pathology results defined the lesion as a giant condyloma acuminatum, or Buschke–Löwenstein tumor. Two months after surgery, the patient presented local recurrence with rapid deterioration of his general condition and died within a few weeks. c i r e s p . 2 0 1 6 ; 9 4 ( 8 ) : 4 8 1

MTHFR C677T polymorphism and anatomopathological characteristics with prognostic significance in sporadic colorectal cancer

Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism, and folate is implicated in carcinogenesis due to its role in DNA methylation, repair and synthesis. The MTHFR C677T polymorphism is associated with decreased risk of CRC and increased sensitivity to 5-FU treatment. The present study addressed the relationship between this polymorphism and histopathological and immunohistochemical characteristics of prognostic significance in 50 patients from the Canary Islands. No differences were found between the MTHFR C677T genotypes with respect to tumor budding, tumor necrosis, desmoplastic fibrosis and tumoral eosinophilia. No significant differences were found in Ki-67, bcl-2 (cytoplasmic and nuclear), CD31, CD3+ T lymphocytes (both stromal and intraepithelial) and peritumoral CD20+ B lymphocytes. In carriers of the MTHFR CC variant, tumor margins were infiltrative more frequently (68.7%) than in CT+TT carriers (33.3%, p=0.03). In addition, wild-type CC genotype showed stromal CD20+ B lymphocytes (68.8%) more often than CT+TT carriers (33.3%, p=0.03). Both parameters indicate a better tumor prognosis when the MTHFR 677T variant is present.

Clinicopathological analysis of factors related to colorectal tumor perforation: influence of angiogenesis.

AbstractColorectal tumor perforation is a life-threatening complication of this disease. However, little is known about the anatomopathological factors or pathophysiologic mechanisms involved.Pathological and immunohistochemical analysis of factors related with tumoral neo-angiogenesis, which could influence tumor perforation are assessed in this study. A retrospective study of patients with perforated colon tumors (Group P) and T4a nonperforated (controls) was conducted between 2001 and 2010. Histological variables (differentiation, vascular invasion, and location) and immunohistochemical (CD31, Growth Endothelial Vascular Factor (VEGF) and p53) related with tumor angiogenesis were analyzed.Of 2189 patients, 100 (4.56%) met the inclusion criteria. Of these, 49 patients had nonperforated (2.23%) and 51 had perforated tumors (2.32%). The P group had lower number of right-sided tumors (7/51, 13.7%) compared with controls (13/49, 36.7%) (P = .01). The high-grade tumors (undifferentiated) represented only 3.9% of the perforated tumors; the remaining 96.1% were well differentiated (P = .01). No differences between groups in the frequency of TP53 mutation or VEGF and CD31 expression were found. In the P group, only 2 (3.9%) had vascular invasion (P = .01). Of the 12 tumors with vascular invasion, only 2 were perforated (16.6%). The median number of metastatic lymph-nodes in P Group was 0 versus 3 in controls (Z = −4.2; P < .01).Pathological analysis of variables that indirectly measure the presence of tumor angiogenesis (differentiation, vascular invasion, and the number of metastatic lymph nodes) shows a relationship between this and the perforation, location, and tumor differentiation. We could not directly validate our hypothesis, by immunohistochemistry of TP53, VEGF, and CD31, that perforated tumors exhibit less angiogenesis.