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Los tumores retroperitoneales son lesiones infrecuentes. Las tumoraciones nerviosas benignas como los schwannomas representan menos del 3% de ellos, siendo extremadamente raros los que afectan el nervio obturador. Presentamos el caso de un paciente con importante afectacion funcional en miembro inferior izquierdo y dolor pelvico, al que se le diagnostico neoplasia retroperitoneal. Fue intervenido por via laparoscopica objetivandose la dependencia de la lesion del nervio obturador. Se llevo a cabo una exeresis completa de la lesion preservando parcialmente el nervio. El paciente tuvo una evolucion funcional y algica muy favorable. La anatomia patologia revelo la presencia de schwannoma, del denominado subtipo "anciano", sin datos de malignidad. Consideramos que el informe de un caso como este puede ayudar a conocer una patologia muy infrecuente y a tener en consideracion algunos puntos clave como la tecnica de abordaje y la necesidad de preservacion de las estructuras nerviosas

Resumen Introduccion Los tumores estromales gastrointestinales (GIST) son los tumores mesenquimales mas frecuentes del tracto gastrointestinal. Han surgido numerosas publicaciones de GIST asociados con otras neoplasias. Objetivos El objetivo de este estudio fue investigar esta posible asociacion en una poblacion aislada geneticamente. Metodos Se realizo un estudio retrospectivo de pacientes con GIST en nuestro centro entre los anos 2002-2009. Se compararon datos epidemiologicos, patologicos y familiares de pacientes con GIST sin neoplasias asociadas (grupo A) frente a pacientes con GIST y neoplasias asociadas (grupo B). Se investigo un posible mecanismo genetico comun entre GIST y las neoplasias asociadas mediante la deteccion, en todos los tumores, por el marcador inmunohistoquimico CD117. Resultados Se hallaron 22 pacientes con GIST, 10 del grupo A (45%) y 12 del grupo B (55%). En el grupo B, el tumor asociado fue maligno en 6 pacientes (50%) y benigno en otros 6 (50%). De 22 pacientes con GIST, 8 (36%) presentaron antecedentes familiares de neoplasia maligna. De estos 8 pacientes, 7 eran (87,5%) del grupo B (p = 0,03) y en 3 (37,5%) coincidieron el tipo anatomopatologico de neoplasia padecida por el paciente y su familiar. No hubo GIST en ningun familiar. Todos los GIST mostraron positividad para el CD117, mientras que las neoplasias asociadas fueron negativas para este marcador. Conclusiones No se ha demostrado positividad inmunohistoquimica para CD117 en las neoplasias asociadas. Dadas las especiales caracteristicas de la poblacion a estudio, la relacion entre GIST y las neoplasias asociadas posiblemente sea casual.

ResumenAntecedentesEl íleo biliar recurrente es una obstrucción intestinal mecánica infrecuente, secundaria a la oclusión del intestino por un cálculo biliar intraluminal.Casos clínicosMujer de 75años, portadora de endoprótesis cardiaca, que acudió con dolor abdominal y vómitos, evidenciándose en la tomografía computada (TC) un íleo biliar. Se realizó enterolitotomía urgente. Tres meses después presenta el mismo cuadro clínico y la TC evidencia nuevo íleo biliar, por lo que se le practicó enterolitotomía, colecistectomía y cierre de fístula colecistoduodenal.Caso 2. Hombre de 71años de edad, con cardiopatía isquémica y pontaje aortocoronario, que acudió con cuadro de vómitos, evidenciándose en TC aerobilia e íleo biliar. Se realizó enterolitotomía urgente. Acudió 7meses más tarde con el mismo cuadro clínico, visualizándose en la TC nuevo íleo biliar, y se le realizó nueva enterolitotomía, colecistectomía y cierre de fístula colecistoduodenal. En el postoperatorio el paciente falleció por disfunción multiorgánica.ConclusiónEn pacientes de edad avanzada con enfermedades concomitantes con riesgo de una segunda laparotomía se justifica reconsiderar la reparación definitiva del íleo biliar. La enterolitotomía en el momento agudo seguido de colecistectomía temprana (4-8semanas) puede ser un método seguro, eliminando la posibilidad de íleo biliar recurrente, y probablemente la necesidad de una segunda laparotomía. Aunque el desarrollo de un carcinoma de vesícula es excepcional, también se evita su aparición.AbstractBackgroundRecurrent gallstone ileus is an uncommon mechanical intestinal obstruction secondary to occlusion of the intestine by an intraluminal biliary calculus.Clinical caseFemale, 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.ConclusionIn 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.

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.

Resumen El ileo biliar es una causa poco frecuente de obstruccion intestinal mecanica, causada por el paso del calculo a traves de la luz intestinal, de dificil diagnostico preoperatorio en el Servicio de Urgencias. Presentamos un estudio retrospectivo de 5 casos de ileo biliar tratados entre 2000 y 2010. Se analizaron las caracteristicas clinicas, las pruebas diagnosticas y el tratamiento quirurgico realizado. Se incluyo a 5 pacientes, 2 empezaron con una obstruccion intestinal tipica, otros 2 presentaron un ileo biliar recurrente previamente intervenido y el ultimo presento una peritonitis secundaria a la perforacion de un diverticulo ileal. En todos los casos, la TAC permitio el diagnostico preoperatorio. En nuestra experiencia, el ileo biliar puede aparecer con clinica diferente a la obstruccion intestinal. En lo casos de sospecha, una TAC puede ser util para disminuir el retraso diagnostico relacionado con mayor numero de complicaciones.

Aims 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. Methods Retrospective analysis of oncologic outcomes of patients with T4a CRC grouped by perforated and non-perforated tumours. Between 2001 and 2010, 100 patients were included. Oncologic outcomes, disease-free survival and global survival were analyzed. Results Forty-nine patients had a non-perforated cancer and 51 presented a perforated neoplasm. Perforated cancers had a lower mean number of lymph nodes (1.16 vs. 4.14, P 0.4) had significant differences in overall survival (log-rank

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.A retrospective study was carried out of patients with S-CRC and FCCTX treated in the Canary Islands. Family and personal history of colorectal cancer (CRC) were recorded, together with genetic (microsatellite instability), immunohistochemical and clinical variables.Forty-eight (10.6%) of 451 patients were classified as FCCTX and the remaining 403 (89.4%) as S-CRC. Age at the diagnosis of tumour was significantly lower in FCCTX than in S-CRC (64.06 ± 12.65 years vs 69.13 ± 10.80 years; P = 0.01; Z = -2.48). Patients with FCCTX had a larger number of synchronous tumours (P = 0.09). Recurrence was significantly higher in FCCTX than in S-CRC (18.7% vs 8.6%; P = 0.01). Survival correlated significantly with the number of first-degree and second-degree relatives with CRC (P = 0.04; OR: 1.368, 95% CI: 1.01-1.84, and P = 0.04; OR: 1.363, 95% CI: 1.08-1.65) and with the total number of cases of CRC in the immediate family (P 0.01; OR: 1.377, 95% CI: 1.17-1.61). Recurrence-free time was significantly lower in patients with FCCTX (log-rank = 0.01).Significant differences were found in several demographic and clinicopathological variables between patients with FCCTX and patients with S-CRC. These included increased tumour presentation under the age of 50 years and a higher recurrence rate in patients with FCCTX, suggesting an increased risk of CRC in this group.

The hMSH2(M688R) mismatch repair (MMR) gene mutation has been found in five large families from Tenerife, Spain, suggesting it is a Lynch syndrome or hereditary non-polyposis colorectal cancer (LS/HNPCC) founder mutation. In addition to classical LS/HNPCC tumors, these families present with a high incidence of central nervous system (CNS) tumors normally associated with Turcot or constitutional mismatch repair deficiency (CMMR-D) syndromes. Turcot and CMMR-D mutations may be biallelic, knocking out both copies of the MMR gene. The hMSH2(M688R) mutation is located in the ATP hydrolysis (ATPase) domain. We show that the hMSH2(M688R)–hMSH6 heterodimer binds to mismatched nucleotides but lacks normal ATP functions and inhibits MMR in vitro when mixed with the wild-type (WT) heterodimer. Another alteration that has been associated with LS/HNPCC, hMSH2(M688I)–hMSH6, displays no identifiable differences with the WT heterodimer. Interestingly, some extracolonic tumors from hMSH2(M688R) carriers may express hMSH2–hMSH6, yet display microsatellite instability (MSI). The functional analysis along with variability in tumor expression and the high incidence of CNS tumors suggests that hMSH2(M688R) may act as a dominant negative in some tissues, while the hMSH2(M688I) is most likely a benign polymorphism.

Inactivation of Mismatch Repair genes in Lynch Syndrome, caused by inherited mutations, decreases the ability to repair DNA errors throughout life. This deficit may allow the development of any tumor type. Nevertheless, the Syndrome develops a specific tumor spectrum associated with the disease. We think that such spectrum of tumors would be related to the action of certain endogenous carcinogens such as bile acids and estrogens that aggravate the inherited defect. J. Surg. Oncol. 2012; 106:10–16. © 2012 Wiley Periodicals, Inc.

Lynch syndrome (LS) is an autosomal dominant condition that predisposes to colorectal cancer and specific other tumors. Extracolonic tumors occur mainly in the endometrium, stomach, ovary, small intestine and urinary tract. The presence of rare tumors in patients belonging to families who have Lynch syndrome is always interesting, because the question arises whether these tumors should be considered as a coincidence or are related with the syndrome. In this last case, they are also the result of the defect in the mismatch repair system, opening the possibility of extending the tumor spectrum associated with the syndrome. Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. We analyzed the adrenocortical tumour for microsatellite instability (MSI), LOH and the presence of the germline c.2063T>G (M688R) mutation. The adrenal cortical carcinoma showed the MSH2 mutation, loss of heterozygosity of the normal allele in the MSH2 gene and loss of immunohistochemical expression for MSH2 protein, but no microsatellite instability. Additionally, the adrenal cortical carcinoma did not harbour a TP53 mutation. The molecular study indicates that this adrenal cortical cancer is probably due to the mismatch repair defect.

Germline mutations or the malfunctioning of postreplicative mismatch repair genes (MMR) are responsible of hereditary nonpolyposis colorectal cancer (HNPCC), and are also implied in some sporadic colorectal cancer (CRC) forms without any familial history of this disease. Besides germinal mutations and methylation, single-nucleotide polymorphisms (SNP) can predispose to nonfamilial CRC with low to moderate penetrance. In this case–control study, we analyzed three MLH1 single-nucleotide polymorphisms (exon 5: 415 G → C, rs28930073; exon 8: 655A → G, rs1799977 and exon 16: 1852-1853AA → GC) in 140 sporadic colorectal cancer cases and 125 healthy individuals to evaluate the relationship among CRC risk and clinicopathologic and genetic characteristics of the tumors. In our study, no 415 G → C variant carrier was found among all analyzed samples. The 1852-1853AA → GC is a rare variant detected in heterozygoses in five controls and one case. In relation to the more frequent 655A → G polymorphism, association analyses revealed that G carriers (AG or GG genotype) displayed a higher risk of CRC compared with AA homozygous [odds ratio (OR) AG = 2.55, 95% confidence interval (CI) = 1.48–4.39; P = 0.01 and OR GG = 2.48, 95% CI = 1.20–5.11; P = 0.01, respectively]. G-carrier males showed high CRC risk compared with homozygous AA wild-type individuals (OR: AG = 3.05; 95% CI = 1.49–6.26, P = 0.002; OR: GG = 3.60; 95% CI = 1.29–10.03). Nevertheless, patients carrying the G allele displayed a better outcome than wild-type genotype carriers (log rank = 7.26; P = 0.007) and did not present vascular invasion (P = 0.03), distant metastasis (P = 0.004), or recurrence (P = 0.01). MLH1 655A → G change is associated with an increased risk, although it seems to have a favorable effect on patients, providing a better outcome. Moreover, our results suggest that for genomic profiling to predict the clinical outcome of patients with colorectal cancer, gender must also be considered.

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.

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. Numerous studies have reported the association between GIST and other neoplasms.The aim of this study was to investigate the possible association between GIST and other tumors in a genetically isolated population.A retrospective study was conducted of patients with GIST between 2002 and 2009 at our center. Epidemiological, pathological and family data in patients with GIST alone (group A) were compared with those in patients with GIST associated with other neoplasms (group B). A possible common genetic mechanism was investigated between GIST and associated malignancies by testing the detection of the immunohistochemical marker, CD117, in all tumors.Twenty-two patients with GIST were identified, 10 in group A (45%) and 12 in group B (55%). In group B, the associated tumor was malignant in 6 patients (50%) and benign in another 6 (50%). Of the 22 patients with GIST, 8 (36%) had a family history of malignancies. Of these 8 patients, 7 (87.5%) were in group B (p=0.03) and 3 (37.5%) showed the same pathological type of neoplasm as their relatives. All GIST were positive for CD117 whereas associated malignancies were negative for this marker.We did not find immunohistochemical positivity for CD117 in malignancies associated with GIST. Given the special characteristics of the study population, the association between GIST and associated malignancies may be incidental.

Background Recurrent gallstone ileus is an uncommon mechanical intestinal obstruction secondary to occlusion of the intestine by an intraluminal biliary calculus. Clinical case A 75-year-old female, 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. A 71-year-old male, 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.

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.Retrospective analysis of oncologic outcomes of patients with T4a CRC grouped by perforated and non-perforated tumours. Between 2001 and 2010, 100 patients were included. Oncologic outcomes, disease-free survival and global survival were analyzed.Forty-nine patients had a non-perforated cancer and 51 presented a perforated neoplasm. Perforated cancers had a lower mean number of lymph nodes (1.16 vs. 4.14, P 0.001), lower LNR (0.13 vs. 0.33, P = 0.001), better TNM-stage (P 0.001), and lower metastases during follows-up (P = 0.02). The perforated-group had higher survival (P = 0.017) and higher metastasis-free time (P = 0.03). LNR cutoffs (0.05, 0.05-0.4, and0.4) had significant differences in overall survival (log-rank 0.001). The predictive value of LNR and metastatic lymph nodes in mortality was similar.In our experience, perforated cancers had higher survival rates and metastasis-free interval that non-perforated cancers, probably by a lower number of metastatic lymph nodes, smaller LNR and better TNM stage. Moreover the predictive value, in mortality rate, of metastatic lymph nodes and LNR was similar.

Methylenetetrahydrofolate 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.Genomic DNA of 50 Spanish sporadic colorectal cancer (CRC) patients and 103 controls was analyzed by PCR/RFLP and sequencing.The 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).The 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.

Objectives Despite genetic advances in the study of Lynch syndrome (LS), difficulties remain in the diagnosis of the syndrome. The aim of this study was to assess the usefulness of a detailed genealogical tree as a screening method to identify Tenerife island families with a high probability of LS. Methods We elaborated complete genealogical trees of the families. According to the degree of fulfillment of the Amsterdam Criteria II, the genealogical trees were classified as high or low probability of LS. Additionally, we analyzed the level of tumor microsatellite instability (MSI+) and identified a mutation in exon 13 of the MSH2 gene by single-strand conformation polymorphism, sequencing, and PCR-RFLP. Results According the genealogical trees, we found 10 families with high probability of LS and 30 families with low probability of LS. The families with high probability of LS showed high MSI+ in all cases. Conversely, families with low probability were MSS (microsatellite stable). In 5 of the 10 families with high probability, we discovered a T-->G mutation in position 688 of exon 13 of MSH2, which appeared in all the family members with the tumor, except 1 patient with a retinoblastoma. Conclusions Our results indicate that genealogical tree is a highly effective tool for classifying families with a high probability of Lynch Syndrome prior to genetic test.

The enzyme MTHFR plays an important role in folate metabolism, and folate is implicated in carcinogenesis due to its role in DNA methylation, repair, and synthesis. We analyze the relationship of MTHFR C677T and A1298C polymorphisms with biological, clinicopathological, genetic and epigenetic features of tumors, and the patient outcome after treatment with 5-FU-based chemotherapy to determine the contribution of MTHFR genotypes in the risk of colorectal cancer (CRC) and in the response to therapy. Genomic DNA of 143 Spanish sporadic CRC and 103 controls was analyzed by polymerase chain reaction/restriction fragment length polymorphism and sequencing. The C677T polymorphism has protective effect on CRC showing TT genotype an odds ratios of 0.06 (95% confidence interval (CI): 0.10–0.32) and the CT of 0.51 (95% CI: 0.3–0.87). MTHFR A1298C polymorphism is not associated with CRC risk. Patients with 1298CC and AC genotypes exhibit worse survival than those with the wild genotype (log rank, p = 0.001), whereas C677T genotypes do not affect patient survival (log rank, p = 0.92). MTHFR 677T allele carriers responded better to 5-FU-based chemotherapy than patients with the wild CC genotype (log rank, p = 0.05). The variant C allele of A1298C affects negatively the response to 5-FU-based chemotherapy (log rank, p = 0.009). The variant allele of the C677T has a protective effect on CRC development, whereas the variant allele of the A1298C does not produce any effect on disease risk. Both MTHFR polymorphisms are relevant and independent factors of patient outcome after 5FU-based treatment of CRC, and MTHFR genotyping may be of predictive benefit in selecting treatment regimens.

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.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.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.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.

There is a complete paucity of literature for left-handed surgeons. Some studies revealed that left-handed surgical residents have lesser operating skills and some surgeons have considered leaving surgery at some point in their career owing to laterality-related frustrations. Most important, whereas minimally invasive surgical techniques have had a profound impact on the treatment of diseased gallbladder, these procedures do not eliminate laterality related to the discomfort of left-handed surgeons. Usually, left-handed surgeons must teach themselves a procedure. They must make modifications and learn some technical tips to make a more comfortable, convenient, and safe intervention. The aim of this study was to describe some modifications made by a left-handed surgeon to perform 52 safe laparoscopic cholecystectomies with standard right-handed instruments in our hospital. These surgical steps could be used in a reproducible way to minimize the recurring difficulties of left-handed learners in a surgical residency program.

Colorectal 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

Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary syndrome with genetic heterogeneity. The disease is caused by mutations or epigenetic silencing in DNA mismatch repair genes, MLH1, MSH2, MSH6, PMS2 and MLH3, although the vast majority of cases correspond to mutations of MLH1 and MSH2. We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). This mutation is expected to result in a nonconservative amino acid change, M688R, at the ATPase domain of the MSH2 protein. We found five large families with this mutation, and about half the individuals heterozygous for M688R developed malignancies by the sixth decade of life. In many cases analyzed, their tumors revealed loss of the normal allele, being homozygous for M688R. There is an evidence of historical isolation for the population studied, which could have favored a considerable genetic drift. The presence of the same mutation and the disease associated-haplotype conservation in families not directly related can be probably the consequence of a bottleneck in the founding of this population (rather than a relatively recent founding of the mutation).

Colorectal cancer is a complex disease from a genetic point of view because both genetic and environmental factors interact in its development. Only familial adenomatous polyposis (FAP) follows mendelian genetics, in that mutations of the APC gene lead to development of the tumours. Lynch syndrome is the most frequent form of hereditary colorectal cancer and appears to be associated with other types of extracolonic cancers. The genetic basis has been established as a defect in DNA mismatch repair genes, and there is genetic heterogeneity due to the involvement of several genes in this system. Germinal mutations in these genes predispose to appearance of the syndrome. The aim of this study is to describe the tumoral spectrum of 10 families, comprising a total of 488 individuals, from the island of Tenerife (Canary Islands) and to assess whether the geographical isolation of this population has changed any features of the tumoral spectrum of the syndrome in comparison with studies that cover larger geographical areas with more genetic exchange. From our results we can conclude that the genetic drift and consanguinity in this population with a demographic history of isolation did not significantly alter the tumoral spectrum of the syndrome. Our data confirm that families affected by Lynch syndrome are a high-risk population and should be closely monitored, since their careful supervision has been shown to be useful in preventing cancer. We also emphasize the importance of developing a complete family history that permits these families to be identified together with a mutational screening of DNA mismatch repair genes (mainly MLH1 and MSH2 genes) with the aim of a possible identification of members of a family that should be carefully monitored (the carriers of germline mutations in these genes), whereas the remaining members, originally, are no more at risk than the general population.

Elderly patients have more infectious complications following laparoscopic colorectal cancer surgery Charlotte L Kvasnovsky, MD, Katie Adams, MBBS, MRCS, Michail Sideris, MBBS, James Laycock, MBBS, Amyn Haji, MA, MBBChir, MSc, MD, FRCS, Asif Haq, MBBch, BAO, NUI, LRCP and SI, FRCS(Eng), FRCS(Gen Surg), Joseph Nunoo-Mensah, B Med Sci, BM BS, FRCS (Gen Surg), LLM, Savvas Papagrigoriadis, MD, MSc, FRCS King’s College Hospital, London, United Kingdom