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Introduction Gastrointestinal stromal tumors (GISTs) are neoplasms originating from the interstitial cells of Cajal, pacemaker cells responsible for intestinal motility. Patients with locally advanced GISTs and those with borderline resections due to the proximity of vital anatomical structures, which could result in unacceptable post-surgical morbidity, require special therapeutic consideration. Imatinib, a tyrosine kinase inhibitor, has demonstrated significant success in the non-surgical management of metastatic GIST, and its favorable impact on overall survival in the adjuvant setting makes it logical to speculate on the benefit it could provide as a neoadjuvant medication in patients with locally advanced disease. Methods Patients aged 18-90 years with a diagnosis of GIST confirmed by immunohistochemistry (CD117 positivity) who were treated at the Oncology Hospital of Centro Médico Nacional Siglo XXI in Mexico City from January 2012 to December 2016 were included in the study. It is a retrospective study with a duration of four years. Clinical data were collected from the medical records, which included sex, age, tumor location, initial resectability, reason for unresectability, initial tumor size, and mitotic rate. In the case of unresectable disease, patients who were evaluated by medical oncology and who had received treatment with 400 mg of imatinib daily were evaluated. Results A total of 312 patients diagnosed with GIST were analyzed. One hundred thirty-one were men (42%) with a mean age of 57 years, and 181 were women (58%) with a mean age of 59 years. The most frequent anatomical location was the stomach (n=185, 59.2%). At the time of diagnosis, 210 patients (67.3%) presented with resectable disease, while n=102 patients (32.7%) had unresectable disease. A total of 102 patients with unresectable disease received therapy with 400 mg of imatinib per day. Sixteen patients (15.7%) presented a reduction in tumor dimensions and underwent surgery. Conclusion The study highlights the importance of complete surgical resection and the potential benefit of neoadjuvant imatinib therapy in converting unresectable to resectable disease. The results suggest that imatinib can be effective in converting unresectable GISTs to resectable ones, allowing for a complete resection to be performed and obtaining an R0 resection in 93.7% of these cases.
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Introduction Gastric cancer is a significant major global health concern, particularly prevalent in Asia. In recent years, a large number of new cases have been diagnosed worldwide, leading to a substantial number of deaths. The disease tends to present more aggressively in these cases, leading to debates about the prognosis and survival outcomes. Nonetheless, research has shown that survival rates improve significantly when the tumor is completely surgically resected. Materials and methods This retrospective study included patients between 16 and 45 years old, diagnosed with gastric cancer, with the support of the pathology department, who underwent surgery in the upper GI service, in the period from January 2006 to December 2012. Data collected encompassed variables such as gender, age, tumor size, type of surgery, overall survival, disease-free period, type and histological degree of the tumor, clinical stage of the cancer, and R0 resection (curative resection). All patients with a confirmed diagnosis of gastric cancer were included and treated with surgery and D1 limited dissection or extended D2 dissection. Patients who have received chemotherapy prior to surgical treatment and those who have been surgically treated outside the XXI Century National Medical Center were excluded. Results A total of 104 patients were included; the predominant histological type was diffuse adenocarcinoma accounting for 79.8% and 81.7% of the cases were histological grade 3. The most common clinical stage was IIIA in 41.3% of the cases. In 53.8% of the cases, we obtained an R0 resection. D2 lymphadenectomy was performed in 53.8% of the cases, with an overall survival rate of 82.69%. Significant prognostic factors for survival included T4 depth with an increase in risk for mortality (OR: 25.93; 95% CI: 6.41-53.54; p=0.001), lymph node status (OR: 14.76; 95% CI: 4.6-46.83; p<0.001), and size greater than 5 cm (OR: 1.8; 95% CI: 0.61-6.35; p<0.001). Conclusions Gastric cancer is more common in adults aged above 60 years old, but the incidence in young adults under 45 years old has been increasing. Although young gastric cancer patients present with more aggressive tumor behavior, these patients can have similar or even better overall survival compared to older patients, being 35% in some cases, especially in the resectable setting. Further research is still needed to fully characterize the unique biology and optimal management of gastric cancer in young adults.
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Background Gastrointestinal stromal tumors (GISTs) arise from Cajal's interstitial cell precursors and display a variety of genetic mutations, primarily in the KIT and PDGFRA genes. These mutations are linked to tumor location, prognosis, and response to treatment. This study delves into the mutational patterns of GISTs in a Mexican population and their impact on overall survival (OS) and disease-free survival (DFS). Methodology This retrospective study examined 42 GIST cases diagnosed at the Oncology Hospital of the National Medical Center XXI Century between January 2018 and December 2020. Clinical, histological, and immunohistochemical data were gathered, and mutational analysis of KIT and PDGFRA genes was conducted using second-generation sequencing. Results The study group consisted of 52.4% females and 47.6% males, with an average age of 62.6 years. The most common tumor site was the stomach (59.5%), followed by the small intestine (26.2%). KIT mutations were detected in 71.4% of cases, predominantly involving exon 11. PDGFRA mutations were observed in 7.1% of cases. Recurrence was noted in 9.5% of patients, all with high-risk tumors. No significant link was identified between specific mutations and OS or DFS. Conclusions This investigation sheds light on the genetic landscape of GISTs in the Mexican population. While no significant association was established between particular mutations and survival outcomes, the study emphasizes the importance of molecular profiling in treatment decision-making. Further studies with larger sample sizes and longer follow-up periods are necessary to validate these results and explore their clinical relevance.
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Objective: To define the impact of surgical margins on local recurrence (LR), distant recurrence (DR) and overall survival (OS) in patients with soft tissue sarcomas of the extremities (eSTS). Method: Patients treated for a primary eSTS from 2006 to 2010 were analyzed. Rates of local recurrence, distant recurrence, and overall survival were estimated using the Kaplan-Meier method. The association of possible prognostic factors such as local recurrence, metastasis, and survival was performed using the Cox proportional hazards model. Results: 128 patients were analyzed. The surgical margins were positive (R1 resection) in 22.7% and negative in 77.3%. The LR was 27%, the DR was 13% (70% of the population was free of disease at 5 years) and OS at 5 years was 84%. The prognostic factors for OS at 5 years were clinical stage, type and histological grade. The surgical margin had no impact on OS. Conclusions: Although an adequate oncological resection cannot be underestimated, this should be considered in the decision of the optimal treatment of eSTS when amputation or significant functional impairment of the limb is required to obtain negative surgical margins.
Objetivo: Definir el impacto de los márgenes quirúrgicos sobre la recurrencia local (RL), la recurrencia a distancia (RD) y la supervivencia global (SG) en pacientes con sarcomas de tejidos blandos de las extremidades (STBe). Método: Se analizaron pacientes tratados por un STBe primario desde 2006 hasta 2010. Las tasas de recurrencia local, recurrencia a distancia y sobrevida global se estimaron mediante el método de Kaplan-Meier. La asociación de posibles factores pronósticos como recidiva local, metástasis y supervivencia se realizó mediante el modelo de riesgos proporcionales de Cox. Resultados: Se analizaron 128 pacientes. Los márgenes quirúrgicos fueron positivos (resección R1) en el 22.7% y negativos en el 77.3%. La RL fue del 27% y la RD fue del 13% (el 70% de la población está libre de enfermedad a 5 años) y la SG a 5 años fue del 84%. Los factores pronósticos para la SG a 5 años fueron el estadio clínico, el tipo y el grado histológico. El margen quirúrgico no tuvo impacto en la SG. Conclusiones: Aunque no se puede subestimar una resección oncológica adecuada, esto se debe considerar en la decisión del tratamiento óptimo de los STBe cuando se requiere una amputación o un deterioro funcional significativo de la extremidad para obtener márgenes quirúrgicos negativos.
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A literature review on desmoid tumors was carried out, which are tumors that affect soft tissues with a locally aggressive behavior and are unable to metastasize. Sporadic cases are located on the extremities and chest wall; hereditary cases have an intra-abdominal predilection, and those associated with pregnancy occur on the abdominal wall. Imaging techniques assess disease extension. Trucut biopsy is the study of choice for diagnosis. Mutations in the CTNNB1 or APC genes cause an abnormal accumulation of b-catenin within the cell. In this review, an emphasis is made on therapeutic strategies' evolution and change, and current tools for decision making are analyzed, as well as clinical outcomes. Radiation therapy can play a therapeutic or adjuvant role. Advances in the understanding of the disease have allowed establishing better targeted treatments with lower morbidity; however, there are still unanswered questions regarding the choice of the ideal candidate for surveillance and/or early treatment. Data related to quality of life are also presented, as well as the uncertainty generated by this diagnosis for both doctor and patient.
Se realizó una revisión bibliográfica de los tumores desmoides, lo cuales afectan los tejidos blandos con un comportamiento localmente agresivo sin capacidad de producir metástasis. Los casos esporádicos se localizan en extremidades y pared torácica; los casos hereditarios tienen predilección intraabdominal y los asociados con el embarazo en la pared abdominal. Las técnicas de imagen evalúan la extensión de la enfermedad. La biopsia con aguja trucut es el estudio de elección para el diagnóstico. Las mutaciones en el gen CTNNB1 o en el gen de APC provocan acumulación anormal de betacatenina en la célula. En esta revisión se hace énfasis en la evolución y cambio de las estrategias terapéuticas y se analizan las actuales herramientas para la toma de decisiones, así como los resultados clínicos. La radioterapia puede tener un papel terapéutico o adyuvante. Los avances en la comprensión de la enfermedad han permitido establecer tratamientos mejor dirigidos y con menor morbilidad; sin embargo, aún existen interrogantes en cuanto a la elección del candidato ideal para la vigilancia o el tratamiento precoz. También se presentan datos relacionados con la calidad de vida y la incertidumbre que genera el diagnóstico en el médico y el paciente.
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Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/terapia , Anti-Inflamatórios/uso terapêutico , Antineoplásicos/uso terapêutico , Biópsia/métodos , Tomada de Decisão Clínica , Feminino , Fibromatose Agressiva/patologia , Humanos , Masculino , Qualidade de Vida , Radioterapia , Incerteza , beta Catenina/metabolismoRESUMO
Resumen Se realizó una revisión bibliográfica de los tumores desmoides, lo cuales afectan los tejidos blandos con un comportamiento localmente agresivo sin capacidad de producir metástasis. Los casos esporádicos se localizan en extremidades y pared torácica; los casos hereditarios tienen predilección intraabdominal y los asociados con el embarazo en la pared abdominal. Las técnicas de imagen evalúan la extensión de la enfermedad. La biopsia con aguja trucut es el estudio de elección para el diagnóstico. Las mutaciones en el gen CTNNB1 o en el gen de APC provocan acumulación anormal de betacatenina en la célula. En esta revisión se hace énfasis en la evolución y cambio de las estrategias terapéuticas y se analizan las actuales herramientas para la toma de decisiones, así como los resultados clínicos. La radioterapia puede tener un papel terapéutico o adyuvante. Los avances en la comprensión de la enfermedad han permitido establecer tratamientos mejor dirigidos y con menor morbilidad; sin embargo, aún existen interrogantes en cuanto a la elección del candidato ideal para la vigilancia o el tratamiento precoz. También se presentan datos relacionados con la calidad de vida y la incertidumbre que genera el diagnóstico en el médico y el paciente.
Abstract A literature review on desmoid tumors was carried out, which are tumors that affect soft tissues with a locally aggressive behavior and are unable to metastasize. Sporadic cases are located on the extremities and chest wall; hereditary cases have an intra-abdominal predilection, and those associated with pregnancy occur on the abdominal wall. Imaging techniques assess disease extension. Trucut biopsy is the study of choice for diagnosis. Mutations in the CTNNB1 or APC genes cause an abnormal accumulation of b-catenin within the cell. In this review, an emphasis is made on therapeutic strategies evolution and change, and current tools for decision making are analyzed, as well as clinical outcomes. Radiation therapy can play a therapeutic or adjuvant role. Advances in the understanding of the disease have allowed establishing better targeted treatments with lower morbidity; however, there are still unanswered questions regarding the choice of the ideal candidate for surveillance and/or early treatment. Data related to quality of life are also presented, as well as the uncertainty generated by this diagnosis for both doctor and patient.
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Humanos , Masculino , Feminino , Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/terapia , Qualidade de Vida , Radioterapia , Biópsia/métodos , Fibromatose Agressiva/patologia , Incerteza , beta Catenina/metabolismo , Tomada de Decisão Clínica , Anti-Inflamatórios/uso terapêutico , Antineoplásicos/uso terapêuticoRESUMO
Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5-15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal ß-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment.