Effect of Phenylalanine-Arginine Beta-Naphthylamide on the Values of Minimum Inhibitory Concentration of Quinolones and Aminoglycosides in Clinical Isolates of Acinetobacter baumannii.

(1) Background: Acinetobacter baumannii has become the most important pathogen responsible for nosocomial infections in health systems. It expresses several resistance mechanisms, including the production of ß-lactamases, changes in the cell membrane, and the expression of efflux pumps. (2) Methods: A. baumannii was detected by PCR amplification of the blaOXA-51-like gene. Antimicrobial susceptibility to fluoroquinolones and aminoglycosides was assessed using the broth microdilution technique according to 2018 CLSI guidelines. Efflux pump system activity was assessed by the addition of a phenylalanine-arginine beta-naphthylamide (PAßN) inhibitor. (3) Results: A total of nineteen A. baumannii clinical isolates were included in the study. In an overall analysis, in the presence of PAßN, amikacin susceptibility rates changed from 84.2% to 100%; regarding tobramycin, they changed from 68.4% to 84.2%; for nalidixic acid, they changed from 73.7% to 79.0%; as per ciprofloxacin, they changed from 68.4% to 73.7%; and, for levofloxacin, they stayed as 79.0% in both groups. (4) Conclusions: The addition of PAßN demonstrated a decrease in the rates of resistance to antimicrobials from the family of quinolones and aminoglycosides. Efflux pumps play an important role in the emergence of multidrug-resistant A. baumannii strains, and their inhibition may be useful as adjunctive therapy against this pathogen.

Linfangiomatosis esplénica en un paciente adulto: Reporte de caso

Los linfangiomas son malformaciones benignas del sistema linfático que afectan con mayor frecuencia a los niños y en raras ocasiones a adultos. Presentamos el caso de una mujer de 36 años, con cuadro clínico de 6 meses de dolor abdominal difuso sin irritación peritoneal, y asociado a adinamia. Como parte de los estudios, se solicitó una tomografía axial computarizada con contraste de abdomen, que reveló múltiples lesiones esplénicas hipodensas hipovasculares, con sospecha diagnóstica de lesiones linfoproliferativas. Por tal motivo se solicitó una esplenectomía diagnóstica, que finalmente mostró hallazgos macroscópicos, microscópicos y de inmunohistoquímica (positividad de las lesiones quísticas para CD31 y D2-40) compatibles con linfagiomatosis esplénica difusa.

Lymphangiomas are benign malformations of the lymphatic system. They most often affect children and rarely adults. We present the case of a 36-year-old woman with a 6-month clinical picture of diffuse abdominal pain without peritoneal irritation associated with adynamia. As part of the studies, a computerized axial tomography with abdominal contrast was requested, which revealed multiple hypovascular hypodense splenic lesions with suspected diagnosis of lymphoproliferative lesions. For this reason, a diagnostic splenectomy was requested, which showed macroscopic, microscopic and immunohistochemical findings (positivity of cystic lesions for CD31 and D2-40) compatible with diffuse splenic lymphagiomatosis

Metástasis gástrica de tumor de células germinales mixto primario testicular: reporte de caso / Gastric metastasis of primary testicular mixed germ cell tumor: A case report

RESUMEN El cáncer de testículo es el tumor sólido más común en los varones de 15 a 29 años. Puede producirse metástasis por vía hematógena o linfática a distintos órganos como pulmón e hígado (usuales) y estómago (inusual). Se presenta el caso de un varón de 30 años que cursa con hemorragia digestiva alta por dos úlceras en el cuerpo gástrico con histología de neoplasia maligna indiferenciada de células pequeñas. En las tomografías se observa tumor testicular derecho con implantes secundarios en cerebro, pulmón, hígado y bazo. Se estudia β-HCG (35 5354 mUI/ml), AFP (500 ng/mL) y DHL (1669 UI/L). Se realiza una orquiectomía radical derecha y se concluyeque es un tumor de células germinales primario de testículo derecho de estadio clínico IIIC por metástasis hepática, esplénica, pulmonar, gástrica y cerebral.

ABSTRACT Testicular cancer is the most common solid tumor in men between ages 15 and 29. It can metastasize through the hematogenous or lymphatic routes to different organs such as the lung and liver (common) and the stomach (uncommon). We present the case of a 30-year-old male patient with upper gastrointestinal bleeding due to two ulcers in the stomach body with histology of unspecified small-cell malignant neoplasm. CT scans showed a right testicular tumor with secondary implants in the brain, lung, liver and spleen. β-HCG (35,5354 mIU/mL), AFP (500 ng/mL) and LDH (1,669 IU/L) tests were conducted. A right radical orchiectomy was performed. It is concluded that this was a clinical stage IIIC primary germ cell tumor of the right testis due to liver, spleen, lung, gastric and brain metastases.

Abdominal angiostrongyliasis, report of two cases and analysis of published reports from Colombia. / Abdominal angiostrongyliasis, report of two cases and analysis of published reports from Colombia

Abdominal angiostrongyliasis is a parasitic zoonosis, endemic in the American continent. Its etiological agent is Angiostrongylus costaricensis, a nematode whose definitive hosts are rats and other rodents and the intermediate hosts, slugs. Mammals acquire the infection by consuming vegetables contaminated with L3 larvae. The disease shows a heterogeneous clinical spectrum and given its low incidence its diagnosis is a great challenge. In Colombia, the first case was reported in 1979 and until 1998, only five additional cases have been reported. However, in the last two decades, no new cases were reported. Here we discuss two cases of children from Huila and Caquetá departments who developed the disease. Both cases required long in-patient care and multiple surgical interventions. The diagnosis was achieved by histopathological observation of parasitic elements inside the mesenteric arteries. One of the children died while the other fully recovered. We discuss the epidemiology, pathogenic cycle, clinical presentation, diagnosis, and prevention strategies of this disease paying particular attention to our patients' features and the Colombian context.

La angiostrongiloidiasis abdominal es una zoonosis parasitaria endémica en el continente americano. Su agente etiológico es el nematodo Angiostrongylus costaricensis, cuyos huéspedes definitivos son los roedores y, los intermediarios, los caracoles y las babosas, por lo que se adquiere al consumir vegetales contaminados con larvas en estadio 3. La presentación clínica es muy variada y, dada su rareza, su diagnóstico es un desafío. En Colombia el primer caso se reportó en 1979 y, desde entonces hasta 1998, se han informado cinco casos más, aunque en las últimas dos décadas no se había reportado ningún caso. Se describen aquí dos casos de angiostrongiloidiasis en niños provenientes de los departamentos de Huila y Caquetá que requirieron una larga hospitalización y múltiples intervenciones quirúrgicas. El diagnóstico se logró al observar en los especímenes quirúrgicos larvas and huevos cuya morfología sugería una infección por nematodos; uno de los pacientes murió y el otro se recuperó satisfactoriamente. Se discuten la epidemiología, la patogenia, la presentación clínica, el diagnóstico y las estrategias de prevención de esta parasitosis, con énfasis en las características particulares de los casos descritos y en el contexto colombiano.

Abdominal angiostrongyliasis, report of two cases and analysis of published reports from Colombia / Angiostrongiliasis abdominal, reporte de dos casos y análisis de los casos publicados en Colombia

Abdominal angiostrongyliasis is a parasitic zoonosis, endemic in the American continent. Its etiological agent is Angiostrongylus costaricensis, a nematode whose definitive hosts are rats and other rodents and the intermediate hosts, slugs. Mammals acquire the infection by consuming vegetables contaminated with L3 larvae. The disease shows a heterogeneous clinical spectrum and given its low incidence its diagnosis is a great challenge. In Colombia, the first case was reported in 1979 and until 1998, only five additional cases have been reported. However, in the last two decades, no new cases were reported. Here we discuss two cases of children from Huila and Caquetá departments who developed the disease. Both cases required long in-patient care and multiple surgical interventions. The diagnosis was achieved by histopathological observation of parasitic elements inside the mesenteric arteries. One of the children died while the other fully recovered. We discuss the epidemiology, pathogenic cycle, clinical presentation, diagnosis, and prevention strategies of this disease paying particular attention to our patients' features and the Colombian context.

La angiostrongiloidiasis abdominal es una zoonosis parasitaria endémica en el continente americano. Su agente etiológico es el nematodo Angiostrongylus costaricensis, cuyos huéspedes definitivos son los roedores y, los intermediarios, los caracoles y las babosas, por lo que se adquiere al consumir vegetales contaminados con larvas en estadio 3. La presentación clínica es muy variada y, dada su rareza, su diagnóstico es un desafío. En Colombia el primer caso se reportó en 1979 y, desde entonces hasta 1998, se han informado cinco casos más, aunque en las últimas dos décadas no se había reportado ningún caso. Se describen aquí dos casos de angiostrongiloidiasis en niños provenientes de los departamentos de Huila y Caquetá que requirieron una larga hospitalización y múltiples intervenciones quirúrgicas. El diagnóstico se logró al observar en los especímenes quirúrgicos larvas and huevos cuya morfología sugería una infección por nematodos; uno de los pacientes murió y el otro se recuperó satisfactoriamente. Se discuten la epidemiología, la patogenia, la presentación clínica, el diagnóstico y las estrategias de prevención de esta parasitosis, con énfasis en las características particulares de los casos descritos y en el contexto colombiano.

Proctitis crónica hemorrágica por radioterapia en el Instituto Nacional de Enfermedades Neoplásicas del Perú, 2011-2013 / Radiotherapy associated chronic hemorrhagic proctitis at the National Institute of Neoplastic Diseases of Peru, 2011-2013

Objetivo: Estudiar las características clínicas y endoscópicas de la proctitis crónica hemorrágica por radioterapia en el Instituto Nacional de Enfermedades Neoplásicas del Perú. Materiales y métodos: Estudio descriptivo, retrospectivo y longitudinal, con una población de 588 pacientes con esta patología, en el periodo 2011-2013, de donde se seleccionaron 114 pacientes por muestreo probabilístico aleatorizado. Se usó la estadística descriptiva e inferencial para el análisis de las variables cualitativas y cuantitativas. Resultados: La investigación encontró como principales resultados, un periodo de latencia de 439,96 días; la severidad de rectorragia clínica fue grado II y III en el 86,84%, la hemoglobina media fue de 11,63 gr/dl, los hallazgos endoscópicos fueron severidad moderada en el 58,77%, extensión solo rectal en el 92,11%, friabilidad leve del 43,86%, compromiso menor del 33% de la superficie rectal en el 71,93% y una longitud media de 7,28 cm. Los hallazgos inflamatorios fueron de cicatrices en el 0,88%, erosiones del 0,88%, de úlceras del 7%, de fístula del 0,88% y del 3,51% de estenosis rectales, el tratamiento de argón plasma coagulación (APC) único o combinado se ofreció en el 96% de los casos. Conclusiones: La proctitis crónica hemorrágica por radioterapia fue una complicación importante de la radioterapia pélvica, con hallazgos clínicos y endoscópicos característicos.

Objective: To study the clinical and endoscopic features of chronic hemorrhagic proctitis by radiotherapy in the National Institute of Neoplastic Diseases of Peru. Materials and methods: The study was descriptive, retrospective and longitudinal, with a population of 588 patients with this pathology, in the period 2011-2013, from which 114 patients were selected by randomized probabilistic sampling. Descriptive and inferential statistics were used for the analysis of qualitative and quantitative variables. Results: The main results were a latency period of 439.96 days; the severity of clinical rectal bleeding was grade 2 and 3 in 86.84%, the mean hemoglobin in chronic hemorrhagic proctitis by radiotherapy was 11.63 g / dl, the endoscopic findings were moderate severity in 58.77%, extension rectal only in 92.11%, slight friability of 43.86%, compromise less than 33% of the rectal surface in 71.93% and an average length of 7.28 cm. The inflammatory findings were 0.88% scars, erosions of 0.88%, ulcers of 7%, fistula of 0.88% and 3.51% of rectal stenosis, single or combined argon plasma coagulation (APC) treatment was offered in 96% of cases. Conclusion: Chronic hemorrhagic proctitis is an important complication of pelvic radiotherapy, with characteristic clinical and endoscopic findings.

Coriocarcinoma gástrico primario: reporte de caso / Primary gastric choriocarcinoma: a case report

El coriocarcinoma gástrico primario (CGP) es un tumor infrecuente. Debido a su rareza, su patogenia aún no es clara. El diagnóstico se basa en la inmunohistopatología, la cual es positiva para gonadotropina coriónica humana (hCG). Es una neoplasia altamente invasiva y de rápida diseminación hematógena, lo que conlleva a un pobre pronóstico. Se presenta el caso de una paciente mujer de 57 años con hemorragia digestiva alta asociada a baja de peso. La gastroscopia reporta, a nivel de cardias y región paracardial, lesión polipoidea ulcerada de 5x4 cm, con bordes circunscritos y sin presencia de infiltración de pared adyacente, con estigmas de sangrado reciente y anatomía patológica que informa neoplasia maligna pleomórfica ulcerada con inmunohistoquímica positiva para panqueratina. Ante la sospecha de carcinoma poco diferenciado y sin evidencia de metástasis, la paciente fue sometida a gastrectomía total y la patología fue compatible con coriocarcinoma. Por ello, posterior a la cirugía, se realiza estudio de hCG sérico con resultado de 714 mIU/ml, lo que confirmó aún más el diagnóstico. Se decide tratamiento adyuvante con quimioterapia y se realiza seguimiento tomográfico y serológico de hCG sin presencia de enfermedad activa.

Primary gastric choriocarcinoma (PGC) is an uncommon tumor. Due to its rarity, its pathogenesis is still unclear. The diagnosis is based on immunohistopathology, which is positive for human chorionic gonadotropin (hCG). It is a highly invasive and rapidly-disseminated hematogenous neoplasm, which leads to a poor prognosis. We present the case of a 57-year-old woman with upper gastrointestinal bleeding associated with weight loss. The gastroscopy showed, on the cardia and paracardial region, a 5x4-cm ulcerated polypoid lesion with circumscribed edges and without adjacent wall infiltration, with stigmas of recent bleeding and a pathological anatomy that demonstrates ulcerated pleomorphic malignancy with positive immunohistochemistry for pankeratin. Given the suspicion of poorly differentiated carcinoma and without evidence of metastasis, the patient underwent a total gastrectomy and the pathology was compatible with choriocarcinoma. Therefore, after the surgery, a serum hCG test was performed with a result of 714 mIU/ml, which further confirmed the diagnosis. Treatment with adjuvant chemotherapy was decided, and a tomographic and serological hCG follow-up was conducted, without the presence of active disease.

[Radiotherapy associated chronic hemorrhagic proctitis at the National Institute of Neoplastic Diseases of Peru, 2011-2013]. / Proctitis crónica hemorrágica por radioterapia en el instituto nacional de enfermedades neoplásicas del Perú, 2011-2013.

OBJECTIVE: To study the clinical and endoscopic features of chronic hemorrhagic proctitis by radiotherapy in the National Institute of Neoplastic Diseases of Peru. MATERIALS AND METHODS: The study was descriptive, retrospective and longitudinal, with a population of 588 patients with this pathology, in the period 2011-2013, from which 114 patients were selected by randomized probabilistic sampling. Descriptive and inferential statistics were used for the analysis of qualitative and quantitative variables. RESULTS: The main results were a latency period of 439.96 days; the severity of clinical rectal bleeding was grade 2 and 3 in 86.84%, the mean hemoglobin in chronic hemorrhagic proctitis by radiotherapy was 11.63 g / dl, the endoscopic findings were moderate severity in 58.77%, extension rectal only in 92.11%, slight friability of 43.86%, compromise less than 33% of the rectal surface in 71.93% and an average length of 7.28 cm. The inflammatory findings were 0.88% scars, erosions of 0.88%, ulcers of 7%, fistula of 0.88% and 3.51% of rectal stenosis, single or combined argon plasma coagulation (APC) treatment was offered in 96% of cases. CONCLUSION: Chronic hemorrhagic proctitis is an important complication of pelvic radiotherapy, with characteristic clinical and endoscopic findings.

[Primary gastric choriocarcinoma: case report]. / Coriocarcinoma gástrico primario: reporte de caso.

Primary gastric choriocarcinoma (PGC) is an extremely rare and highly invasive tumor with rapid hematogenous spread. We present the case of a 57-year-old female patient who started with hematemesis and progressive episodes of melena, weight loss and epigastralgia. It is derived from the National Institute of Neoplastic Diseases where gastroscopy and biopsy are performed. Histological analysis reported pattern suggestive of PGC; that was confirmed by immunohistochemical analysis for human chorionic gonadotrophin and fetal alpha protein. Subsequently, the patient underwent a radical D2 gastrectomy with splenic preservation and tail of the pancreas preservation. Unfortunately, her evolution was not favorable and died due to the progression of the disease.

Coriocarcinoma gástrico primario: reporte de caso / Primary gastric choriocarcinoma: case report

El coriocarcinoma gástrico primario (CGP) es un tumor extremadamente raro, altamente invasivo y de rápida diseminación hematógena. Presentamos el caso de una paciente de 57 años que inicia con cuadro de hematemesis y, progresivamente, se le suman episodios de melena, baja de peso y epigastralgia. Es derivada al Instituto Nacional de Enfermedades Neoplásicas en donde se le realizan gastroscopía y biopsia. Así, el análisis histológico reportó patrón sugestivo para CGP; el cual se confirmó al realizarle a la paciente los estudios por imágenes necesarios y llevar a cabo el análisis inmunohistoquímico para gonadotrofina coriónica humana y alfa feto proteína. Posteriormente, a la paciente se le realiza una gastrectomía radical D2 con preservación esplénica y de cola de páncreas. Lamentablemente, su evolución no fue favorable y fallece por la progresión de la enfermedad.

Primary gastric choriocarcinoma (PGC) is an extremely rare and highly invasive tumor with rapid hematogenous spread. We present the case of a 57-year-old female patient who started with hematemesis and progressive episodes of melena, weight loss and epigastralgia. It is derived from the National Institute of Neoplastic Diseases where gastroscopy and biopsy are performed. Histological analysis reported pattern suggestive of PGC; that was confirmed by immunohistochemical analysis for human chorionic gonadotrophin and fetal alpha protein. Subsequently, the patient underwent a radical D2 gastrectomy with splenic preservation and tail of the pancreas preservation. Unfortunately, her evolution was not favorable and died due to the progression of the disease.

Tumor sólido pseudopapilar de páncreas: Tumor de Frantz / Solid pseudopapillary tumor of the pancreas: Frantz´s tumor

El tumor pseudopapilar de páncreas, también conocido como tumor de Frantz, es una enfermedad muy rara en nuestro medio, comprende menos del 3 % de los tumores pancreáticos (1). Su etiología es desconocida, y su incidencia se observa en mujeres jóvenes con predominancia de la tercera década de la vida. Presentamos el caso de una mujer de 23 años que ingresa por epigastralgia urente desde hace 3 meses, además de llenura precoz. Al examen presenta dolor a la palpación profunda. Cuenta con perfil bioquímico, hepático, marcadores tumorales dentro de valores normales, la tomografía espiral multicorte (TEM) abdomino-pélvica reporta lesión neoformativa sólida quística de morfología redondeada de bordes bien definidos, la patología confirma tumor sólido pseudopapilar de páncreas. La paciente se somete a resección de tumor, con evolución favorable.

The solid pseudopapillary tumor of the pancreas, also known as Frantz's tumor, is a very rare disease in our country, comprising less than 3 % of pancreatic tumors (1). Its etiology is unknown and it is predominantly found in young women in their third decade of life. We present the case of a 23-year-old woman who was admitted due to a 3-month burning epigastralgia and early satiety. On examination, she had pain with deep palpation. Her biochemical profile, liver profile, and tumor markers were within normal values. An abdomen and pelvis multislice helical/spiral computed tomography (CT) scan showed a solid cystic neoformative lesion with rounded structure and well-defined borders. Pathology confirmed a solid pseudopapillary tumor of the pancreas. The patient underwent a tumor resection with favorable evolution.

Zika Virus RNA Replication and Persistence in Brain and Placental Tissue.

Zika virus is causally linked with congenital microcephaly and may be associated with pregnancy loss. However, the mechanisms of Zika virus intrauterine transmission and replication and its tropism and persistence in tissues are poorly understood. We tested tissues from 52 case-patients: 8 infants with microcephaly who died and 44 women suspected of being infected with Zika virus during pregnancy. By reverse transcription PCR, tissues from 32 (62%) case-patients (brains from 8 infants with microcephaly and placental/fetal tissues from 24 women) were positive for Zika virus. In situ hybridization localized replicative Zika virus RNA in brains of 7 infants and in placentas of 9 women who had pregnancy losses during the first or second trimester. These findings demonstrate that Zika virus replicates and persists in fetal brains and placentas, providing direct evidence of its association with microcephaly. Tissue-based reverse transcription PCR extends the time frame of Zika virus detection in congenital and pregnancy-associated infections.

Effectiveness of systematic alphanumeric coded endoscopy for diagnosis of gastric intraepithelial neoplasia in a low socioeconomic population.

Background and study aims: In the Western world, gastric cancer (GC) usually presents at an advanced stage, carrying a high mortality rate. Studies have reported that 14 % to 26 % of GCs are missed at endoscopy up to 3 years before diagnosis. Systematic Alphanumeric Coded Endoscopy (SACE) has been proposed to improve quality of esophagogastroduodenoscopy (EGD) by facilitating a complete examination of the upper gastrointestinal tract. This prospective cross-sectional study was designed to determine the frequency of gastric intraepithelial neoplasia (GIN) by using the SACE approach in cohort of patients from low socioeconomic level. It also used non-targeted biopsies to evaluate the frequency of premalignant conditions. Patients and methods: A total of 601 consecutive asymptomatic or dyspeptic patients were enrolled between January 2013 and November 2014 at the Huacho regional hospital in Peru. The SACE method proposed by Emura et al, which divides the stomach into 5 regions and 21 areas, was routinely used for diagnosis. Biopsy samples were obtained from any endoscopically detected focal lesion. To evaluate gastric premalignant conditions, 4 non-targeted biopsies were taken. Results: A total of 573 patients were analyzed. The mean age was 57 years, and the female:male ratio was 1.9 : 1. In all cases, complete photo-documentation of the 21 gastric areas was achieved. The overall rate of detection of GIN was 2.8 %. Low-grade displasia, high-grade dysplasia, and adenocarcinoma were found in 13 (2.3 %), 2 (0.3 %), and 1 (0.2 %) of the patients, respectively. The prevalence of at least 1 premalignant condition was 31 %, and helicobacter pylori infection was found in 57 % of patients. Conclusions: Using the SACE approach and with proper training, we have reported herein a high frequency of GIN in patients from a low socioeconomic status. Gastric cancer detection can be improved in a Western endoscopy setting when SACE, as a screening method, is performed by a trained endoscopist.

Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.

Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations.The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; P = 0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; P = 0.001), less likely to have a family history of cancer (9.7% vs 15.3%; P = 0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; P = 0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; P = 0.005) and report a family history of cancer (17.4% vs 10.2%; P = 0.001).To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.

Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk.

Thyroid cancer (TC) is the second most common cancer among Hispanic women. Recent genome-wide association (GWA) and candidate studies identified 6 single nucleotide polymorphisms (SNPs; rs966423, rs2439302, rs965513, rs6983267, rs944289, and rs116909374), associated with increased TC risk in Europeans but their effects on disease risk have not been comprehensively tested in Hispanics. In this study, we aimed to describe the main clinicopathological manifestations and to evaluate the effects of known SNPs on TC risk and on clinicopathological manifestations in a Hispanic population.We analyzed 281 nonmedullary TC cases and 1146 cancer-free controls recruited in a multicenter population-based study in Colombia. SNPs were genotyped by Kompetitive allele specific polymerase chain reaction (KASP) technique. Association between genetic variants and TC risk was assessed by computing odds ratios (OR) and confidence intervals (CIs).Consistent with published data in U.S. Hispanics, our cases had a high prevalence of large tumors (>2 cm, 43%) and a high female/male ratio (5:1). We detected significant associations between TC risk and rs965513A (OR = 1.41), rs944289T (OR = 1.26), rs116909374A (OR = 1.96), rs2439302G (OR = 1.19), and rs6983267G (OR = 1.18). Cases carried more risk alleles than controls (5.16 vs. 4.78, P = 4.8 × 10). Individuals with ≥6 risk alleles had >6-fold increased TC risk (OR = 6.33, P = 4.0 × 10) compared to individuals with ≤2 risk alleles. rs944289T and rs116909374A were strongly associated with follicular histology (ORs = 1.61 and 3.33, respectively); rs2439302G with large tumors (OR = 1.50); and rs965513A with regional disease (OR = 1.92).To our knowledge, this is the first study of known TC risk variants in South American Hispanics and suggests that they increase TC susceptibility in this population and can identify patients at higher risk of severe disease.

The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics.

Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population.

[Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, Peru;]. / Síndromes hereditarios de predisposición al cáncer colorrectal identificados en el Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Perú

BACKGROUND: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited síndromes that predispose to CRC. OBJECTIVE: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). MATERIAL AND METHODS: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013. We included patients with personal or familiar history of CRC and/or colonic polyposis who were referred for clinical assessment to the Oncogenetics Unitat INEN. RESULTS: 59.3 % were female, 40.7 % male, 69.8% under 50 years old, 60.5% had a single CRC, 23.2% had more than one CRC or CRC associated with other extracolonic neoplasia and 32.6% had a familiar history of cancer with autosomal dominant inheritance. According to the clinical genetic diagnosis, 93.1% of the included cases were inherited syndromes that predispose to CRC, with 33.8% of colonic polyposis syndromes, 23.3% of hereditary nonpolyposis CRC syndromes (HNPCC) and 36.0% of CCRHNP probable cases. CONCLUSIONS: Clinical genetic evaluation of patients with personal or familiar history of CRC and/or colonic polyposis can identify inherited colorectal cancer predisposition syndromes and provide an appropriategenetic counseling to patients and relatives at risk, establishing guidelines to follow-up and prevention strategies to prevent morbidity and mortality by cancer.

Síndromes hereditarios de predisposición al cáncer colorrectal identificados en el Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Perú / Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Peru

Introducción: El cáncer colorrectal (CCR) es la cuarta neoplasia más frecuente en el mundo y según el origen de las alteraciones en el genoma de las células, el CCR se clasifica en esporádico (~70%) y genético (~30%), éste último involucra a los síndromes hereditarios de predisposición al CCR. Objetivo: Describir los síndromes hereditarios de predisposición al CCR, polipósicos y no polipósicos, identificados en el consultorio de Oncogenética del INEN. Material y métodos: Estudio descriptivo observacional a partir del registro de atenciones en el consultorio de Oncogenética del INEN durante el periodo 2009 al 2013. Se incluyeron a los pacientes con antecedentes personales o familiares de CCR y/o con poliposis colónica que fueron referidos para la evaluación clínica genética al consultorio de Oncogenética del INEN. Resultados: El 59,3% fueron mujeres, 40,7% varones, 69,8% fueron menores de 50 años, 60,5% presentó un CCR único, 23,2% más de un CCR o un CCR asociado a otra neoplasia extracolónica y el 32,6% poseían antecedentes familiares de cáncer con patrón de herencia autosómico dominante. Según el diagnóstico clínico genético, el 93,1% de los casos incluidos correspondieron a síndromes hereditarios de predisposición al CCR, siendo el 33,8% síndromes de poliposis colónica, 23,3% síndromes de CCR hereditario no polipósico (CCRHNP) y el 36,0% casos probables de síndrome CCRHNP. Conclusiones: La evaluación clínica genética de los pacientes con antecedentes personales o familiares de CCR y/o con poliposis colónica permite identificar a los síndromes hereditarios de predisposición al CCR y brindar una adecuada asesoría genética al paciente y familiares en riesgo, estableciendo medidas de seguimiento y estrategias de prevención a fin de evitar la morbimortalidad por cáncer.

Background: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited syndromes that predispose to CRC. Objective: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). Material and methods: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013. We included patients with personal or familiar history of CRC and/or colonic polyposis who were referred for clinical assessment to the Oncogenetics Unit at INEN. Results: 59.3 % were female, 40.7 % male, 69.8% under 50 years old, 60.5% had a single CRC, 23.2% had more than one CRC or CRC associated with other extracolonic neoplasia and 32.6% had a familiar history of cancer with autosomal dominant inheritance. According to the clinical genetic diagnosis, 93.1% of the included cases were inherited syndromes that predispose to CRC, with 33.8% of colonic polyposis syndromes, 23.3% of hereditary nonpolyposis CRC syndromes (HNPCC) and 36.0% of CCRHNP probable cases. Conclusions: Clinical genetic evaluation of patients with personal or familiar history of CRC and/or colonic polyposis can identify inherited colorectal cancer predisposition syndromes and provide an appropriate genetic counseling to patients and relatives at risk, establishing guidelines to follow-up and prevention strategies to prevent morbidity and mortality by cancer.

Factores de sobrevida en 152 pacientes con tumores estromales gastrointestinales / Survival factors in 152 patients with gastrointestinal stromal tumors

INTRODUCCIÓN: El tumor estromal gastrointestinal (GIST), es la designación para un tipo específico de tumor mesenquimal del tracto digestivo que proviene de las células intersticiales de Cajal (ICC) o de sus precursores multipotenciales, es de presentación infrecuente y por ello, su mejor conocimiento deberá incidir en un adecuado manejo diagnóstico y terapéutico. OBJETIVOS: Valorar las características clínicas e identificar los factores que influencian la sobrevida de los pacientes con diagnóstico de tumor estromal gastrointestinal. MATERIAL Y MÉTODOS: El presente estudio es de diseño cuantitativo, no experimental, descriptivo, retrospectivo y transversal. Ha sido realizado en 152 pacientes con diagnóstico de tumor estromal gastrointestinal que fueron atendidos en el Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima-Perú, desde Enero del año 1999 hasta Diciembre del año 2009. Para el diagnóstico definitivo se consignó el resultado de la pieza quirúrgica y la histología se complementó con test de inmuno histoquímica. Para valorar la distribución normal de la población se usaron las pruebas de Shapiro-Wolk, Anderson-Darling, Lilliefors, respecto a la estadística inferencial se usó tablas de supervivencia y para valorar la significancia en el análisis univariado (p<0.05 significativa), se usaronlas pruebas de Wilcoxon, Tarone-ware y Log-rank, además para evaluar la diferencia entre grupos en las tablas de contingencia se utilizó el chi cuadrado y el test de Fisher. El análisis multivariado se realizó utilizando el modelo de riesgo proporcional de Cox.RESULTADOS: El grupo de 152 pacientes comprendió 78 mujeres (51%) y 74 varones (49%) con rango etáreo de 16 a 92 años, con una edad promedio de 54 años. La frecuencia de presentación se incrementó a partir de la cuarta década de vida y alcanzó su mayor expresión entre los 50 y 70 años. La presentación inicial fue de enfermedad localizada para 79 pacientes (52%) y con metástasis primaria...

INTRODUCTION: The gastrointestinal stromal tumor (GIST) is the designation for a specific type of mesenchymal tumor of the digestive tract that is origin in the interstitial cells of Cajal (ICC) or its precursor multipotentials, its presentation is rare and therefore its best knowledge must affect a proper diagnosis and treatment. OBJECTIVES: To evaluate the clinical characteristics and to identify factors influencing survival of patients with gastrointestinal stromal tumor. MATERIAL AND METHODS: This study design is quantitative, non experimental, descriptive, retrospective and transversal. The study has been performed in 152 patients with gastrointestinal stromal tumor who were treated at the National Institute of Neoplastic Diseases (INEN), Lima, Peru, from January 1999 through December 2009. For the final diagnosis was registered the outcome of the surgical and histology was complemented by immunohistochemical test. To assess the normal distribution of the population was used the Shapiro-Wolk, Anderson-Darling, Lilliefors, regarding the use of inferential statistical tables for survival and to assess its significance in the univariate analysis (p<0.05 significance), was used the Wilcoxon test, Tarone-Ware Log-rank and also to evaluate the difference between groups in contingency tables used the chi square and FisherÆs test. Multivariate analysis was performed using the proportional hazards model of Cox. RESULTS: The group of 152 patients included 78 women (51%) and 74 men (49%) with age range from 16 to 92 years, with an average age of 54. The frequency presentation was increased from the fourth decade of life and reaches its highest expression between 50 and 70. The initial presentation was with localized disease to 79 patients (52%) and primary metastases in 73 patients (48%), with an average time of disease 14 months. The prevalence of GIST tumor in the differents organs was as follows: stomach with 77 patients (50.65%), jejunum with 21 patients...