Epidemiology of musculoskeletal tumors in a reference unit. / Epidemiología de los tumores musculoesqueléticos en una unidad de referencia.

OBJECTIVE: The objective of this study was to perform an epidemiological analysis of patients presented to the Musculoskeletal Tumors Committee of a reference hospital. MATERIAL AND METHOD: A retrospective analysis of patients with sarcomas treated in a reference Sarcoma Unit between 2009 and 2022 was carried out. RESULTS: A total of 1978 patients were analyzed, of which 1477 (74.67%) were diagnosed as sarcomas. They were divided into 446 (30.20%) bone tumors and 1.031 (69.80%) soft tissue tumors. The most common benign bone tumor was enchondroma (27.23%), giant cell tumor (59.21%) was the most common tumor of intermediate malignancy and the malignant one was osteosarcoma (24.78%). The most frequently observed benign soft tissue tumor was lipoma (50.74%), the atypical lipomatous tumor (53.25%) was the most frequent tumor of intermediate malignancy and the malignant one was sarcoma of uncertain differentiation (38.10%). CONCLUSION: Our study represents the first work on the epidemiology of sarcomas and other musculoskeletal tumors in our country, being very useful to adapt the resources destined for their diagnosis and treatment.

Carcinoid crisis: The challenge is still there.

Carcinoid crisis (CC) has classically been considered the extreme end of the spectrum of carcinoid syndrome (CS). However, this presumption and other aspects of CC remain poorly understood. Consequently, current clinical guidelines are based on a low quality of evidence. There is no standard definition of CC and its incidence is unknown. Patients with florid CS and elevated serotonin (or its derivatives) which develop CC have been reported during decades. Nevertheless, the hypothesis that CC is due to the sudden massive release of serotonin or other vasoactive substances is unproven. Many triggers of CC (surgery, anaesthesia, peptide receptor radionuclide therapy, tumour biopsy or liver-directed treatments) have been proposed. However, data from studies are heterogeneous and even contradictory. Finally, the role of octreotide in the prevention of CC has been questioned. Herein, we report a clinical case and perform a critical review of the evidence available today on this topic.

Tumor maligno melanocítico de la vaina neural en mediastino posterior / Malignant melanotic nerve sheath tumor of the posterior mediastinum

Resumen El schwannoma melanótico (SM) es una variante rara e infrecuente caracterizada por el depósito citoplasmáti co de melanosomas (melanina). A diferencia de las otras variantes de schwannomas, tienen capacidad de malig nización. Por poseer características y comportamiento distintos al resto de los schwannomas, fue reclasificado como "tumor maligno melanocítico de la vaina neural" en la 5ta edición de la clasificación de los tumores del sis tema nervioso central de la Organización Mundial de la Salud en 2021. Presentamos dos casos de SM de ubicación mediastinal en los que se realizó una resección quirúrgi ca completa.

Abstract Melanotic schwannoma (MS) is a rare and infrequent subtype of schwannoma characterized by cytoplasmic deposits of melanosomes (melanin). Unlike the other schwannomas, it could have malignant transforma tion. Due to distinctive characteristics and atypical behavior from classic schwannomas subtypes, MS were renamed and reclassified as "melanocytic malignant neural sheath tumor" in the 5th ed. of the World Health Organization's classification of central nervous system tumors in 2021. We present two cases of MS that under went complete surgical resection.

Tumor odontogénico epitelial calcificante en la rama mandibular. Informe de un caso clínico basado en una actualización bibliográfica / Calcifying epithelial odontogenic tumor in the mandibular ramus. A case report based on a literature update

Objetivo: Presentar un caso clínico de un tumor odon- togénico epitelial calcificante (TOEC), así como una revisión de la literatura disponible sobre esta neoplasia para contribuir al análisis del mejor método de tratamiento de la patología. Caso clínico: Se presenta el caso de una paciente mujer de 35 años con un tumor odontogénico epitelial calcifican- te que recibió tratamiento de enucleación quirúrgica con una evolución favorable y seguimiento de 5 años por medio de evaluación clínica y radiológica. La elección terapéutica se basó en el resultado de un análisis exhaustivo de la literatura para determinar el mejor abordaje de la neoplasia (AU)

Aim: To present a clinical case of a calcifying epithelial odontogenic tumor (CEOT), as well as a review of the availa- ble literature on this neoplasia to contribute to the analysis of the best treatment method for the pathology. Clinical case: The case of a 35-year-old patient with a calcifying epithelial odontogenic tumor who received surgical enucleation treatment with a favorable evolution and 5-year follow-up through clinical and radiological evaluation is pre- sented. The therapeutic choice was based on the result of an exhaustive analysis of the literature to determine the best ap- proach to the neoplasia (AU))

Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.

INTRODUCTION/OBJECTIVES: Mutations in the ARMC5 (armadillo repeat containing 5, OMIM 615549) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications. METHODS, RESULTS AND CONCLUSIONS: We present an affected family with 11 members carrying a novel mutation of the ARMC5 gene (NM_001288767.1): c.2162T>C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation.

Linfangioma Oral en Paciente con Síndrome Koolen de Vries: Presentación de Caso y Revisión de Literatura

Los linfangiomas son tumores benignos hamartomatosos de los vasos linfáticos, originadas de un secuestro del saco linfático y agrandados por un inadecuado drenaje a la falta de comunicación con los canales linfáticos centrales o a la secreción excesiva de células de revestimiento. La incidencia de estos tumores en el sistema linfático es baja con una frecuencia de 1,2 a 2,8/1.000 en niños, sin predilección por sexo. En el territorio maxilofacial se pueden distinguir tres tipos de linfangioma: linfangioma simple, linfangioma cavernoso e higroma quístico o linfangioma quístico. Clínicamente estas lesiones se presentan como masas de tejido blando indoloras y de crecimiento lento. Su aspecto clínico depende de la extensión de la lesión. Diversos métodos de tratamiento para el linfangioma han sido reportados en la literatura, siendo la escisión quirúrgica la indicada, principalmente cuando estructuras vitales no están involucradas en la lesión. En este artículo se presenta un caso de una paciente femenina de 13 años con un aumento de volumen en el bermellón del labio superior, con antecedente de síndrome Koolen De Vries, a la cual se le realizó la exéresis de la lesión.

Lymphangiomas are benign hamartomatous tumors of the lymphatic vessels, originating from a sequestration of the lymphatic sac and enlarged by inadequate drainage, lack of communication with the central lymphatic channels or excessive secretion of lining cells. The incidence of these tumors in the lymphatic system is low, with a frequency of 1.2 to 2.8/1000 in children, with no predilection for sex. Three types of lymphangioma can be distinguished in the maxillofacial territory: simple lymphangioma, cavernous lymphangioma, and cystic hygroma or cystic lymphangioma. Clinically, these lesions present as painless, slow-growing soft tissue masses. Their clinical appearance depends on the extent of the lesion. Various treatment methods for lymphangioma have been reported in the literature, with surgical excision being indicated mainly when vital structures are not involved in the lesion. This article presents a case of a 13-year-old female patient with an increase in volume in the vermilion of the upper lip, with a history of Koolen De Vries syndrome, in which the excision of the lesion was performed.

Experiencia quirúrgica en el Centro Especializado en Tratamiento de Enfermedades de la Piel (CETEP) del Centro Hospitalario Pereira Rossell, desde 1996 hasta 2019 / Surgical experience at the Specialized Center for the Treatment of Skin Diseases (CETEP) at Pereira Rossell Hospital from 1996 to 2019 / Experiência cirúrgica no Centro Especializado en el Tratamiento de Enfermedades de la Piel (CETEP) do Hospital Pereira Rossell no período 1996 - 2019

Los tumores cutáneos presentan una alta prevalencia en dermatología en el mundo, siendo los benignos más frecuentes que los malignos; sin embargo, estos últimos son más estudiados debido a su morbimortalidad. El objetivo principal de este estudio fue conocer los principales diagnósticos y técnicas quirúrgicas correspondientes desarrolladas en el Centro de Tratamiento de Enfermedades de la Piel (CETEP) entre 1996 y 2019, evaluando aspectos clínicos y demográficos. Se realizó un estudio retrospectivo y observacional que incluyó todo paciente con lesión cutánea y posterior resolución quirúrgica de la misma. En la muestra analizada (N 6.659) hubo un predominio del sexo femenino (68%) y la media de edad fue 53 ± 21 años. Los pacientes residían mayoritariamente en Montevideo (58%). Los tumores benignos fueron los más frecuentes (41%), seguidos de los malignos (28%), dentro de éstos: carcinoma basocelular (CBC) 66%, carcinoma espinocelular (CEC) 21% y melanoma (MM) 5%. Las técnicas quirúrgicas realizadas fueron cirugías convencionales (57%), principalmente losange (93%), seguidas de procedimientos de cirugía dermatológica (42%), predominando biopsias (52%) y afeitado con electrocoagulación (23%). Se destaca que el CETEP resolvió un número mayor de pacientes de centros externos que del propio Centro Hospitalario Pereira Rossell (CHPR): 59% no CHPR vs 41% CHPR. En conclusión, este trabajo proporcionó información nacional sobre la epidemiología de distintos tumores cutáneos, así como las técnicas quirúrgicas más utilizadas en su resolución. Además, estableció la importancia de la cirugía dermatológica y la capacidad del CETEP en dar respuesta a pacientes propios tanto como referenciados desde otros centros del sistema público.

Cutaneous tumors have a high prevalence in dermatology worldwide, with benign tumors being more common than malignant ones. Nevertheless, the latter are more extensively studied due to their associated morbidity and mortality. The main objective of this study was to identify the primary diagnoses and corresponding surgical techniques developed at the Center for the Treatment of Skin Diseases (CETEP) between 1996 and 2019, while assessing clinical and demographic aspects. A retrospective, observational study was conducted, including all patients with cutaneous lesions and subsequent surgical resolution of the same. In the analyzed sample (N 6659), there was a predominance of females (68%), and the mean age was 53 ± 21 years. The majority of patients resided in Montevideo (58%). Benign tumors were the most prevalent (41%), followed by malignant tumors (28%), with the latter comprising basal cell carcinoma (BCC) at 66%, squamous cell carcinoma (SCC) at 21%, and melanoma (MM) at 5%. The performed surgical techniques included conventional surgeries (57%), primarily using the lozenge method (93%), followed by dermatologic surgery procedures (42%), with a predominance of biopsies (52%) and shave excision with electrocoagulation (23%). It is noteworthy that CETEP resolved a greater number of patients from external centers than from its own hospital, Pereira Rossell Hospital Center (CHPR). 59% non-CHPR vs. 41% CHPR. In conclusion, this study provided national information on the epidemiology of various cutaneous tumors, as well as the most commonly employed surgical techniques in their resolution Furthermore, it emphasized the importance of dermatologic surgery and highlighted the capacity of CETEP to respond to both its own patients and those referred from other centers within the public healthcare system.

Os tumores da pele apresentam alta prevalência na dermatologia em todo mundo, sendo os tumores benignos mais frequentes que os malignos, porém estes últimos são mais estudados devido à sua morbidade e mortalidade. O objetivo principal deste estudo foi conhecer os principais diagnósticos e correspondentes técnicas cirúrgicas desenvolvidas no Centro de Tratamento de Doenças da Pele (CETEP) no período 1996-2019, avaliando aspectos clínicos e demográficos. Foi realizado um estudo retrospectivo e observacional, que incluiu todos os pacientes com lesões cutâneas e com posterior tratamento cirúrgico. Foram estudados 659 pacientes com predomínio do sexo feminino (68%) e média de idade de 53 ± 21 anos. A maioria dos pacientes residiam em Montevidéu (58%). Os tumores benignos foram os mais frequentes (41%), seguidos dos tumores malignos (28%), entre estes: carcinoma basocelular (CBC) 66%, carcinoma espinocelular (CEC) 21% e melanoma (MM) 5%. As técnicas cirúrgicas realizadas foram cirurgias convencionais (57%), principalmente em forma de cunha (93%), seguidas de procedimentos cirúrgicos dermatológicos (42%), predominando biópsias (52%) e shaving com eletrocoagulação (23%). Destaca-se que o CETEP atendeu um número maior de pacientes de centros externos do que do próprio Centro Hospitalar Pereira Rossell (CHPR): 59% não-CHPR vs. 41% CHPR. Concluindo, este trabalho forneceu informações sobre a epidemiologia dos diferentes tumores de pele no país, bem como as técnicas cirúrgicas mais utilizadas no seu tratamento. Além disso, estabeleceu a importância da cirurgia dermatológica e a capacidade do CETEP de atender os pacientes do hospital e também os que foram encaminhados de outros centros da rede pública.

Análisis del manejo en tumores presacros en adultos: Experiencia de los últimos 15 años en el Hospital Clínico de la Universidad de Chile

Antecedentes: Los tumores presacros son entidades frecuentes con diferentes etiologías, sin un abordaje quirúrgico establecido, habiendo relativamente poca experiencia en el manejo y en el seguimiento y resultados postoperatorios. Objetivo: Reportar el resultado en forma descriptiva del manejo de este tipo de lesiones en el hospital clínico de la Universidad de Chile. Material y Método: Estudio observacional, descriptivo y de carácter retrospectivo, de serie de casos, analizando la base de datos de cirugías del Hospital clínico de la Universidad de Chile en los últimos 15 años, excluyendo a pacientes con tumores óseos y operados por otros equipos. Se utilizo estadística simple y descriptiva para el análisis. Resultados: Se operaron 23 pacientes en los últimos 15 años, 12 por vía transabdominal, 9 resuelto por vía abierta y 3 por vía laparoscópica. Los restantes 11 fueron resuelto con abordaje posterior, siendo el de kraske usado en todos los pacientes. El seguimiento promedio fue de 16 meses. 4 pacientes registraron recurrencia Conclusiones: Los tumores presacros representan un desafío en términos de diagnóstico y manejo quirúrgico, siendo el estudio preoperatorio con imágenes más examen físico, determinante en el manejo quirúrgico del mismo. Es de considerar abordajes transabdominales en aquellos tumores mayores de 10 cms y en aquellos que se sospeche, fuertemente, malignidad, lo que no contraindica la vía laparoscópica. En caso de abordaje posterior, siempre descartar lesiones incidentales de recto, por lo que el examen anorrectal intraoperatorio debería estar de regla.

Background: Presacral tumors are frequent entities with different etiologies, without an established surgical management or approach, having relatively little experience in management and follow-up and postoperative results. Objective: To report the result in a descriptive way of the management of this type of lesions in the Clinical Hospital of the University of Chile. Material and Method: Observational, descriptive and retrospective study of case series, analyzing the database of surgeries of the Clinical Hospital of the University of Chile in the last 15 years, excluding patients with bone tumors and operated by other units. Simple and descriptive statistics were used for the analysis. Results: 23 patients were operated on in the last 15 years, 12 transabdominally. 9 resolved by open fashion and 3 laparoscopically. The remaining 11 patients was resolved with posterior approach, being the kraske used in all patients. The average follow-up was 16 months with 4 patients showing recurrence. Conclusions: The presacral tumors represent a challenge in terms of diagnosis and surgical management, being the preoperative study with images plus physical examination, determinant in the surgical management of the same. We recommend considering transabdominal approaches in those tumors larger than 10 cm and in those that strongly suspect malignancy, which does not contraindicate the laparoscopic route. In case of subsequent management, never rule out incidental lesions of the rectum, so the intraoperatory anorectal examination should be the rule.

Clinical features and prognosis of malignant small bowel tumors: Experience from a university hospital in Chile.

BACKGROUND: Small bowel tumors (SBT) are infrequent and represent a small proportion of digestive neoplasms. There is scarce information about SBT in Latin America. AIM: To describe the epidemiology, clinical characteristics, diagnostic methods, and survival of malignant SBTs. METHODS: Retrospective observational study of adult patients with histopathological diagnosis of SBT between 2007 and 2021 in a university hospital in Chile. RESULTS: A total of 104 patients [51.9% men; mean age 57 years] with SBT. Histological type: neuroendocrine tumor (NET) (43.7%, n=38), gastrointestinal stromal tumors (GIST) (21.8%, n=19), lymphoma (17.2%, n=15) and adenocarcinoma (AC) (11.5%, n=10). GIST was more frequent in duodenum (50%; n=12) and NET in the ileum (65.8%; n=25). Metastasis was observed in 17 cases, most commonly from colon and melanoma. Nausea and vomiting were significantly more often observed in AC (p=0.035), as well as gastrointestinal bleeding in GIST (p=0.007). The most common diagnostic tools were CT and CT enteroclysis with an elevated diagnostic yield (86% and 94% respectively). The 5-year survival of GIST, NET, lymphoma and AC were 94.7% (95%CI: 68.1-99.2), 82.2% (95%CI: 57.6-93.3), 40.0% (95%CI: 16.5-82.8) and 25.9% (95%CI: 4.5-55.7%), respectively. NET (HR 6.1; 95%CI: 2.1-17.2) and GIST (HR 24.4; 95%CI: 3.0-19.8) were independently associated with higher survival compared to AC, adjusted for age and sex. CONCLUSIONS: Malignant SBT are rare conditions and NETs are the most common histological subtype. Clinical presentation at diagnosis, location or complications may suggest a more probable diagnosis. GIST and NET are associated with better survival compared to other malignant subtypes.

Hidrocistomas ecrinos múltiples

RESUMEN Los hidrocistomas ecrinos son tumores benignos, únicos o múltiples. Se presentan con mayor frecuencia en la mediana edad y predominan en el sexo femenino. Se presenta un paciente con hidrocistomas ecrinos múltiples, masculino de 74 años.

ABSTRACT Eccrine hydrocystomas are benign tumors, which can be single or multiple. They occur most oftenly in middle aged patients or in the elderly, predominantly female. We present a case of multiple eccrine hydrocystomas, in a 74-year-old male patient.

Visual and semi-quantitative analysis of 6-[18F]FDOPA PET/CT in patients with brain tumors and suspected tumor recurrence versus radionecrosis.

INTRODUCTION: Amino acid PET is a tool recommended by the main neuroimaging societies in the differential diagnosis between radionecrosis (RNC) and umour recurrence (TR) in brain tumours, but its use in our country is still limited. The aim of this work is to present our experience with 6-[18F]FDOPA PET/CT (FDOPA) in brain tumours (primary and M1), comparing these results with other published results. MATERIAL AND METHODS: Retrospective study of 62 patients with suspected tumour recurrence (TR): 42 brain metastases (M1) and 20 primary, who underwent FDOPA. Images were analysed visually and semi-quantitatively, obtaining SUVmax and SUVmaxlesion/SUVmaxstriatum (L/S) and SUVmaxlesion/SUVmaxcortex (L/C) ratios. The diagnostic validity of PET was analysed and the best performing cut-off points were calculated. PET results were compared with clinical-radiological follow-up and/or histopathology. RESULTS: TR was identified in 49% of M1 and 76% of brain primaries. The best performing FDOPA interpretation was visual and semi-quantitative, with a sensitivity and specificity in primaries of 94% and 80% and in M1s of 96% and 72% respectively. The cut-off points with the best diagnostic performance were L/C1.44 in M1 and L/C1.55 in primaries. There are discrepant results with other published results. CONCLUSION: FDOPA PET/CT is a useful tool in the differential diagnosis between recurrence and RNC in brain tumours. It is needed a standardization to contribute to homogenise FDOPA results a inter-centre level.

Hepatic hemodynamic study: More than just HVPG measurement.

Evaluation and staging of liver disease is essential in the clinical decision-making process of liver tumors. The severity of portal hypertension (PH) is the main prognostic factor in advanced liver disease. Performing an accurate hepatic venous pressure gradient (HVPG) measurement is not always possible, especially when veno-venous communications are present. In those complex cases, a refinement in HVPG measurement with a thorough evaluation of each of the components of PH is mandatory. We aimed at describing how some technical modifications and complementary procedures may contribute to an accurate and complete clinical evaluation to improve therapeutic decisions.

Characteristics of gastrointestinal stromal tumors associated to other tumors: Características de los tumores del estroma gastrointestinal asociados a otras neoplasias.

INTRODUCTION: Our aim is to analyze the differences between sporadic gastrointestinal stromal tumors and those associated with other tumors. METHODS: Retrospective cohort study including patients with diagnosis of gastrointestinal stromal tumors operated at our center. Patients were divided into two groups, according to whether or not they had associated other tumors, both synchronously and metachronously. Disease free survival and overall survival were calculated for both groups. RESULTS: 96 patients were included, 60 (62.5%) were male, with a median age of 66.8 (35-84). An association with other tumors was found in 33 cases (34.3%); 12 were synchronous (36.3%) and 21 metachronous (63.7%). The presence of mutations in associated tumors was 70% and in non-associated tumors 75%. Associated tumors were classified as low risk tumors based on Fletcher's stratification scale (p = 0.001) as they usually were smaller in size and had less than ≤5 mitosis per 50 HPF compared to non-associated tumors. When analyzing overall survival, there were statistically significant differences (p = 0,035) between both groups. CONCLUSION: The relatively high proportion of gastrointestinal stromal tumors cases with associated tumors suggests the need to carry out a study to rule out presence of a second neoplasm and a long-term follow-up should be carried out in order to diagnose a possible second neoplasm. Gastrointestinal stromal tumors associated with other tumors have usually low risk of recurrence with a good long-term prognosis.

Assessment of Subgingival Biofilm and its Relationship with the Status of Tumors in a Population with Breast Cancer

This study aimed to compare the subgingival microbiota of subjects with and without breast cancer (BC). Patients with BC (Group 1; n= 50) and without BC (Group 2; n=50) with periodontitis (A) and without periodontitis (B). The study was conducted in two phases (P1 and P2). One biofilm sample was collected from each subject and analyzed by DNA-DNA Hybridization (Checkerboard DNA-DNA). The relative abundance of the subgingival microbiota differed between the Case and Control groups. However, some species were higher in patients in the Case than in Control subjects and differed between the groups in both phases. Composition of the subgingival microbial community according to the Socransky complex was related to periodontal disease, followed by clinical attachment of level (CAL ≥4mm), age, and tooth loss, which were found to be abundant in Cases when compared with controls. Patients with Tumor Grade II and III had a higher prevalence of tooth loss and CAL≥4mm. It was concluded that in individuals with BC, the sub-gingival microbiota exhibited atypical changes, but they developed periodontal disease.

El objetivo de este estudio fue comparar la microbiota subgingival de sujetos con y sin cáncer de mama (CM). Pacientes con CM (Grupo 1; n= 50) y sin CM (Grupo 2; n=50) con periodontitis (A) y sin periodontitis (B). El estudio se realizó en das fases (P1 y P2). Se recogió una muestra de biopelícula de cada sujeto y se analizó mediante hibridación ADN-ADN (tablero de ajedrez ADN-ADN). La abundancia relativa de la microbiota subgingival difirió entre los grupos de Caso y Control. Sin embargo, algunas especies fueron más altas en los pacientes del Caso que en los sujetos del Control y difirieron entre los grupos en ambas fases. La composición de la comunidad microbiana subgingival según el complejo de Socransky se relacionó con la enfermedad periodontal, seguida por el nivel de inserción clínica (CAL≥4mm), la edad y la pérdida de dientes, que se mostró abundante en los casos en comparación con los controles. Los pacientes con Tumor Grado II y III tuvieron mayor prevalencia de pérdida dental y CAL≥4mm. Se concluyó que en individuos con CM la microbiota subgingival presentó cambios atípicos, pero sin embargo, desarrollaron enfermedad periodontal.

Pineoblastoma en el adulto. A propósito de un caso

Fundamento: Los pineoblastomas son tumores cerebrales infrecuentes dentro del grupo de los tumores primitivos neuroectodérmicos. La presentación clínica por lo general está relacionada con la obstrucción del acueducto de Silvio, lo que ocasiona hidrocefalia e hipertensión intracraneal. Objetivo: Describir las características clínicas e imagenológicas de un paciente adulto con diagnóstico de pineoblastoma. Presentación de caso: Masculino, 33 años, que comenzó con disminución de la agudeza visual que evolucionó a la amaurosis bilateral y trastorno de la marcha. Se diagnosticó hidrocefalia obstructiva triventricular, por lo cual se realizó tercer ventriculostomía endoscópica. Se decidió un abordaje supracerebeloso infratentorial a la lesión tumoral, con apoyo endoscópico en posición semisentado; se logró la resección parcial. En estudio inmunohistoquímico se encontró Ki-67 mayor de 50 % de las células, neurofilamento y sinaptofisina positiva. Se concluyó como pineoblastoma. Recibió radioterapia convencional con Co-60, fraccionada, con un total de 30 dosis diarias de 2 Gy. La evolución del paciente a los 6 meses de operado fue satisfactoria. Conclusiones: El tratamiento combinado de cirugía y radioterapia constituye un esquema terapéutico ideal en este tipo de lesiones tumorales. La endoscopia es una herramienta de gran valor en los abordajes quirúrgicos a la región pineal.

Background: Pineoblastomas are infrequent brain tumors among the neuroectodermal primitive tumors. Clinical presentation is usually related to Silvian aqueduct obstruction, which causes hydrocephalus and intracranial hypertension. Objective: To describe the clinical and imagenological characteristics in an adult patient diagnosed with pineoblastoma. Case presentation: Male, 33 years old, who started with visual acuity decline that evolved to bilateral amaurosis and gait disorder. Triventricular obstructive hydrocephalus was diagnosed, therefore, an endoscopic third ventriculostomy was realized. It was decided to use an infratentorial supracerebellar approach to the tumor lesion, with endoscopic support in semi-seated position; partial resection was achieved. In immunohistochemical study, Ki-67 was found to be higher than 50% of the cells, neurofilament and synaptophysin positive. It was concluded as pineoblastoma. He received fractionated Co-60 conventional radiotherapy, with a total of 30 daily doses, 2 Gy. The evolution of the patient 6 months after surgery was satisfactory. Conclusions: The combined treatment of surgery and radiotherapy constitutes an ideal therapeutic scheme in this type of tumor lesions. Endoscopy is a tool of great value in surgical approaches to the pineal region.

Mixoma cardiaco como causa de isquemia en niños. Reporte de casos

El mixoma cardiaco constituye uno de los tumores benignos más frecuentes entre los tumores cardiacos. El mismo se caracteriza por la obstrucción del flujo sanguíneo por trombosis o émbolo, resultando en causa de insuficiencia cardiaca con disfunción ventricular, síncope ortostático, isquemia de diferentes órganos de acuerdo a la arteria afectada, e incluso muerte súbita. Presentamos 2 casos en pacientes pediátricos: el primer caso, una adolescente con ACV isquémico y el segundo caso se trata de un adolescente con isquemia a nivel de miembros inferiores por una tromboembolia en la Aorta distal. En ambos casos se realizó la exéresis del tumor, con éxito.

Cardiac myxoma is one of the most frequent benign tumors among cardiac tumors. It is characterized by the obstruction of blood flow due to thrombosis or embolus, resulting in heart failure with ventricular dysfunction, orthostatic syncope, ischemia of different organs depending on the affected artery, and even sudden death. We present 2 cases in pediatric patients: the first case, an adolescent with ischemic stroke and the second case is an adolescent with ischemia in the lower limbs due to a thromboembolism in the distal aorta. In both cases, the exeresis of the tumor was performed successfully.

Tumor glómico de intestino delgado / Glomus tumor of the small bowel

RESUMEN Los tumores glómicos (TG) son neoplasias vasculares benignas de tejidos blandos en zonas acrales periféricas. La mayoría de los TG intraabdominales se producen en el estómago; su presentación intestinal es de muy baja incidencia. Se presenta el caso de una mujer de 26 años, que consultó por dolor abdominal crónico de baja intensidad en región umbilical sin otra signo sintomatología. Se completó su estudio imagenológico y se detectó una lesión abdominopélvica heterogénea con componente sólido vascularizado, y líquido con proyecciones papilares. El informe de la patología de la pieza quirúrgica arrojó el diagnóstico de TG de intestino delgado. Se realizó una consulta que demuestra su baja incidencia: afecta a personas entre 26 y 88 años de ambos sexos en igual proporción, sin una distribución geográfica predominante. Los TG deben considerarse como un raro diagnóstico diferencial ante tumores del intestino delgado (ID).

ABSTRACT Glomus tumors (GTs) are benign vascular neoplasms of soft tissues that occur in peripheral acral areas. Most intra-abdominal GTs develop in the stomach; the incidence of intestinal presentation is very low, We report the case of a 26-year-old female patient with chronic mild pain in the umbilical region with no other symptoms or signs. The imaging tests demonstrated a heterogeneous abdominopelvic mass with a solid vascularized component, and a cystic component with papillary projections. The pathology examination of the surgical specimen reported the diagnosis of GT of the small bowel (SB). We conducted a review of the literature and found their low incidence, affecting both men and women between 26 and 88 years without a predominant geographic distribution. Glomus tumors should be considered as a rare differential diagnosis in the presence of small SB tumors.

Factores de riesgo asociados a la persistencia de hidrocefalia posterior a la resección de tumores de fosa posterior / Risk factors associated with hydrocephalus persistence after posterior fossa tumors resection

Introducción. Las neoplasias de fosa posterior son los tumores de sistema nervioso central más frecuentes en la población pediátrica y una causa frecuente de hidrocefalia. El objetivo del presente trabajo es analizar los factores de riesgo asociados a hidrocefalia luego de las cirugías de resección de tumores de fosa posterior en una población pediátrica. Material y métodos. Se realizó un estudio observacional retrospectivo de pacientes pediátricos operados de tumores de fosa posterior en un único hospital. Se analizaron potenciales factores de riesgo pre y post quirúrgicos. Se consideró como variable respuesta la necesidad de derivación definitiva para tratar la hidrocefalia a los 6 meses de la resección tumoral. Resultados. En el análisis univariado se detectaron múltiples factores de riesgo significativos. Sin embargo, solamente 3 se mantuvieron en el modelo multivariado: grado de resección (Subtotal: OR 7.86; Parcial: OR 20.42), infección postoperatoria (OR 17.31) y ausencia de flujo de salida postoperatorio en IV ventrículo (OR 4.29). Éste modelo presentó una buena capacidad predictiva (AUC: 0.80, Sensibilidad 80.5%, Especificidad 76.3%). Conclusión. La realización de tercer ventriculostomía endoscópica preoperatoria no redujo la incidencia de hidrocefalia postoperatoria. El grado de resección tumoral, la presencia de infección postoperatoria y la obstrucción de salida del IV ventrículo fueron los factores de riesgo más importantes para el requerimiento de sistema derivativo definitivo luego de la resección de un tumor de fosa posterior. Ésto podría influir en la toma de decisiones respecto al tratamiento en este grupo de pacientes pediátricos

Background. Posterior fossa tumors are the most frequent central nervous system neoplasms in the pediatric population and a frequent cause of hydrocephalus. The objective of this study is to analyze the risk factors associated with hydrocephalus after posterior fossa tumors resection in a pediatric population. Methods. A retrospective observational study was conducted on pediatric patients who underwent posterior fossa tumor resection in a single hospital. Potential pre- and post-operative risk factors were analyzed. The need for definitive shunt placement to treat hydrocephalus at 6 months after tumor resection was considered as the outcome variable. Results. Univariate analysis identified multiple significant risk factors. However, only 3 factors remained in the multivariate model: extent of resection (subtotal: OR 7.86; partial: OR 20.42), postoperative infection (OR 17.31), and absence of postoperative outflow of the fourth ventricle (OR 4.29). This model showed good predictive capacity (AUC: 0.80, Sensitivity 80.5%, Specificity 76.3%). Conclusion. Preoperative endoscopic third ventriculostomy did not reduce the incidence of postoperative hydrocephalus. The extent of tumor resection, presence of postoperative infection, and obstruction of fourth ventricle outflow were the most important risk factors for the requirement of a definitive shunt system after posterior fossa tumor resection. This could influence treatment decisions in this group of pediatric patients

Retracción dural percutánea en cirugías mínimamente invasivas de columna vertebral / Percutaneuos Dural Retracion in Minimally Invasive Spine Surgery

Introducción. El desarrollo de técnicas quirúrgicas mínimamente invasivas se considera un pilar esencial de la medicina moderna. La técnica de retracción dural percutánea espinal se presenta como una estrategia novedosa con la intención de contribuir a su adopción en el tratamiento de patologías intradurales. Objetivos. Describir la técnica quirúrgica de apertura dural percutánea para patologías intradurales espinales. Descripción de la técnica. Se trata de una técnica para la apertura dural primaria en la técnica mínimamente invasiva, permitiendo objetivarse con mayor perspectiva visual la medula espinal y el objetivo diana. Se realiza una descripción con imágenes del paso a paso. Conclusión. La exéresis de tumores raquídeos intradurales mediante abordajes tubulares es un procedimiento complejo. La misma se ve incrementada si debe realizarse a través de un ojal dural o apertura dural insuficiente. La retracción dural ampliada beneficia la visión del cirujano al exponer en mayor medida los tejidos intradurales

Background. The development of minimally invasive surgical techniques is considered an essential pillar of modern medicine. The percutaneous spinal dural retraction technique is presented as a novel strategy with the intention of contributing to its adoption in the treatment of intradural pathologies. Objectives. To describe the surgical technique of percutaneous dural opening for intradural spinal pathologies.Technique Description. It is a technique for primary dural opening with the minimally invasive technique, allowing the spinal cord and the target objective to be observed with a greater visual perspective. A description is made with step-by-step images. Conclusions. The excision of intradural spinal tumors through minimally invasive tubular approaches is a complex procedure. It is increased if it must be performed through a dural eyelet or insufficient dural opening. Extended dural retraction benefits the surgeon's vision by further exposing intradural tissues

Factor inducible por hipoxia en cáncer

El oxígeno y dióxido de carbono son vitales en la respiración, sus variaciones fuera del rango fisiológico son una amenaza para la supervivencia de las células. La hipoxia es una condición común en la mayoría de los tumores malignos, la cual promueve angiogénesis y vascularización disfuncional, mayor proliferación celular y la adquisición de un fenotipo de transición epitelial a mesenquimatoso, que contribuye con la metástasis; asimismo, altera el metabolismo de las células cancerosas y genera resistencia a la terapia, ya que induce a la inactividad celular. Por tanto, la hipoxia es un factor negativo, asociado a resultados adversos en la mayoría de los tratamientos de los distintos tipos de cáncer. El factor inducible por hipoxia (HIF) es el factor de transcripción relacionado con la hipoxia en cáncer, que produce la activación de más de una centena de genes reguladores de la actividad celular, que generan funciones cruciales para el desarrollo del cáncer. El objetivo principal de la presente revisión es puntualizar la importancia de la hipoxia en la génesis del cáncer, conocer las principales moléculas que interactúan en la expresión del HIF, explicar los mecanismos moleculares de las vías involucradas en la inducción del HIF, las consecuencias celulares por su alteración y las potenciales terapias dirigidas contra este factor. Se consultaron PubMed, Scopus y SciELO, del año 1990 hasta el año 2022, y se buscaron las referencias bibliográficas en relación con las palabras clave asociadas al factor inducible por hipoxia y cáncer. En conclusión, la sobreexpresión de HIF-1α en biopsias tumorales se asocia con una mayor mortalidad de pacientes en cánceres humanos. Los posibles genes diana regulados por HIF-1α que pueden desempeñar un papel en la progresión tumoral están empezando a descubrirse. A pesar de que se han estudiado cientos de compuestos en relación con el HIF en cáncer, en la actualidad existen pocos inhibidores del HIF aprobados en el mercado mundial; asimismo, muchos estudios clínicos, en sus distintas fases en desarrollo, no muestran resultados alentadores. Probablemente, en el futuro, cuando se tenga una mejor comprensión de la estructura, funcionamiento molecular y biológico de este factor, se desarrollarán fármacos más específicos para la inhibición del HIF.

Oxygen and carbon dioxide are essential for breathing; variations in these gases outside of the normal range are a threat to cell survival. Hypoxia is a common condition that occurs in most malignant tumors, increases angiogenesis and defective vascularization, promotes cell proliferation and acquires an epithelial-mesenchymal transition phenotype, which causes metastasis. It also affects cancer cell metabolism and makes patients resistant to treatment by causing cell quiescence. As a result, hypoxia is a detrimental component that is linked to unfavorable outcomes in most cancer treatments. Through the activation of more than a hundred genes that control cell activity, which produce key functions for cancer development, the transcription factor known as hypoxia-inducible factor (HIF) is linked to hypoxia in cancer. This review's main goals are to highlight the role of hypoxia in the development of cancer, identify the key molecules that interact to promote HIF expression, explain the molecular mechanisms of the pathways that lead to HIF induction, describe the cellular effects of HIF alteration, and discuss potential HIF-targeted therapies. Articles from 1990 to 2022 were reviewed in PubMed, Scopus and SciELO databases. Keywords related to cancer and HIF were searched in bibliographical references. In conclusion, HIF-1α overexpression in tumor biopsies is associated with increased patient mortality in human cancers. Potential HIF-1α-regulated target genes that may play a role in tumor progression are starting to be identified. Although hundreds of chemicals have been studied in relation to HIF in cancer, there are currently few approved HIF inhibitors available on the global market; moreover, many clinical trials, in their various stages of development, do not show encouraging results. It is likely that in the future, when there is a better understanding of the structure, molecular and biological functioning of this factor, more specific drugs for HIF inhibition will be developed.