Schwannoma anciano del nervio obturador: una rara causa de neuralgia / Ancient schwannoma of the obturator nerve: an uncommon cause of pelvic neuralgia

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 afectación funcional en miembro inferior izquierdo y dolor pélvico, al que se le diagnosticó neoplasia retroperitoneal. Fue intervenido por vía laparoscópica objetivándose la dependencia de la lesión del nervio obturador. Se llevó a cabo una exéresis completa de la lesión preservando parcialmente el nervio. El paciente tuvo una evolución funcional y álgica muy favorable. La anatomía patología reveló 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 patología muy infrecuente y a tener en consideración algunos puntos clave como la técnica de abordaje y la necesidad de preservación de las estructuras nerviosas.

Retroperitoneal tumors are uncommon; benign tumors originating in the nerve cells as schwannomas represent less than 3%, while schwannomas of the obturator nerve are extremely rare. We report the case of a male patient with significant functional compromise of the left lower limb and pelvic pain who was diagnosed with a retroperitoneal tumor. The patient underwent laparoscopic surgery during which the compromise of the obturator nerve was evident. The lesion was completely resected with partial preservation of the nerve. The patient progressed with favorable functional recovery and pain relief. The histopathological examination reported a benign ancient schwannoma. We believe that this case report can help to understand a very rare condition and consider some key points such as the technique of approach and the need for preservation of the nerve structures.

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.

[Enterolithotomy and early cholecystectomy, an application of damage control surgery for patients with gallstone ileus]. / 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.

[C-KIT in gastrointestinal stromal tumors and associated malignancies: A Study in a population with genetic isolation]. / C-kit en tumores estromales gastrointestinales y neoplasias asociadas: estudio en población con aislamiento genético.

INTRODUCTION: 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. OBJECTIVES: The aim of this study was to investigate the possible association between GIST and other tumors in a genetically isolated population. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

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

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 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.

Appendiceal diverticulitis and acute appendicitis: differences and similarities.

INTRODUCTION: Acute appendiceal diverticulitis is an unusual cause of acute abdomen, considered clinically indistinguishable from acute appendicitis. MATERIAL AND METHODS: In a historic cohort study with 27 cases of appendiceal diverticulitis and 54 cases of acute appendicitis, we compared clinical characteristics, diagnostic tests and pathology findings of the two processes. RESULTS: Mean age at presentation was lower in acute appendicitis (37.24 +/- 19.98 vs. 54.81 +/- 17.55 years, p < 0.001), with significant differences between men (33.33 +/- 15.89 vs. 57 +/- 18.02 years, p < 0.001) but not between women (41.76 +/- 24.87 vs. 50.44 +/- 16.69 years, p = 0.34). In the diverticulitis group, 48.15 % had leukocytosis vs. 81.48 % in the appendicitis group (p = 0.02); there was no difference in leukocyte count (13770.37 +/- 4382.55 vs. 14279.63 +/- 4268.59, p = 0.61). Patients with appendiceal diverticulitis had a higher incidence of appendiceal mucocele (p = 0.01) and a lower proportion of appendiceal gangrene (p = 0.03). There were no differences in appendiceal perforation or ulceration. Symptom duration before emergency department attendance (71.61 +/- 85.25 hours vs. 36.84 +/- 33.59 hours; Z = -3.1 p = 0.002), duration of surgery (85 +/- 40 minutes vs. 60 +/- 21 minutes, Z = -3.2, p = 0.001) and the presence of appendicular plastron was higher in patients with diverticulitis vs. appendicitis (8 vs. 5 patients [p = 0.01, Odds ratio 2.2]). CONCLUSIONS: Appendiceal diverticulitis presents a series of clinical, epidemiological and pathological differences with respect to acute appendicitis. The former shows a more indolent course with delayed diagnosis.

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

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 < 0.001), 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, and >0.4) had significant differences in overall survival (log-rank < 0.001). The predictive value of LNR and metastatic lymph nodes in mortality was similar. CONCLUSIONS: 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.

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

PURPOSES: 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. METHODS: Genomic DNA of 50 Spanish sporadic colorectal cancer (CRC) patients and 103 controls was analyzed by PCR/RFLP and sequencing. RESULTS: 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). CONCLUSIONS: 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.

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.

Long-term results of anterior sphincteroplasty.

PURPOSE: This study was designed to evaluate the outcome of anterior sphincteroplasty in a large series with ten-year follow-up. METHODS: The long-term results in 191 consecutive patients who were a median of ten years from sphincteroplasty were assessed. A questionnaire was administered to assess current bowel function, degree of incontinence, and quality of life as measured by the Fecal Incontinence Quality of Life Scale. Subjective assessment of early outcome was available for most patients at a median follow-up of three years. RESULTS: During the follow-up period, three patients died and one developed severe dementia. Five patients required further surgery for incontinence and were considered failures. Of the remaining 182 patients, 130 (71 percent) returned a completed questionnaire. At ten years follow-up, 6 percent had no incontinence, 16 percent were incontinent of gas only, 19 percent had soiling only, and 57 percent were incontinent of solid stool. Results worsened significantly between the assessments at three and ten years. The only significant predictors of a poor outcome were older age and fecal incontinence at three years. Preoperative anorectal physiology studies did not predict outcome. Scores on the Fecal Incontinence Quality of Life Scale were lower in those with fecal incontinence, indicating a poorer disease-specific quality of life. CONCLUSIONS: Only 40 percent of patients maintain fecal continence long-term after sphincteroplasty. Older patients and patients with poorer short-term function are more likely to have fecal incontinence at ten years. Incontinence at ten years had a negative effect on quality of life. Further research is needed to develop techniques to improve long-term continence in these patients.