DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients.

Background: DICER1 alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described "primary DICER1-associated CNS sarcoma" (DCS). DCS is an extremely aggressive tumor with a distinct methylation signature and a high frequency of co-occurring mutations. However, little is known about its treatment approach and the genomic changes occurring after exposure to chemoradiotherapy. Methods: We collected clinical, histological, and molecular data from eight young adults with DCS. Genomic analysis was performed by Next-generation Sequencing (NGS). Subsequently, an additional germline variants analysis was completed. In addition, an NGS analysis on post-progression tumor tissue or liquid biopsy was performed when available. Multiple clinicopathological characteristics, treatment variables, and survival outcomes were assessed. Results: Median age was 20 years. Most lesions were supratentorial. Histology was classified as fusiform cell sarcomas (50%), undifferentiated (unclassified) sarcoma (37.5%), and chondrosarcoma (12.5%). Germline pathogenic DICER1 variants were present in two patients, 75% of cases had more than one somatic alteration in DICER1, and the most frequent commutation was TP53. Seven patients were treated with surgery, Ifosfamide, Cisplatin, and Etoposide (ICE) chemotherapy and radiotherapy. The objective response was 75%, and the median time to progression (TTP) was 14.5 months. At progression, the most common mutations were in KRAS and NF1. Overall survival was 30.8 months. Conclusions: DCS is an aggressive tumor with limited therapeutic options that requires a comprehensive diagnostic approach, including molecular characterization. Most cases had mutations in TP53, NF1, and PTEN, and most alterations at progression were related to MAPK, RAS and PI3K signaling pathways.

Integration of artificial intelligence and precision oncology in Latin America.

Next-generation medicine encompasses different concepts related to healthcare models and technological developments. In Latin America and the Caribbean, healthcare systems are quite different between countries, and cancer control is known to be insufficient and inefficient considering socioeconomically discrepancies. Despite advancements in knowledge about the biology of different oncological diseases, the disease remains a challenge in terms of diagnosis, treatment, and prognosis for clinicians and researchers. With the development of molecular biology, better diagnosis methods, and therapeutic tools in the last years, artificial intelligence (AI) has become important, because it could improve different clinical scenarios: predicting clinically relevant parameters, cancer diagnosis, cancer research, and accelerating the growth of personalized medicine. The incorporation of AI represents an important challenge in terms of diagnosis, treatment, and prognosis for clinicians and researchers in cancer care. Therefore, some studies about AI in Latin America and the Caribbean are being conducted with the aim to improve the performance of AI in those countries. This review introduces AI in cancer care in Latin America and the Caribbean, and the advantages and promising results that it has shown in this socio-demographic context.

Peripheral Neural Sheath Breast Sarcoma: Case Report and Literature Review.

Primary sarcomas of the breast are heterogeneous neoplasms derived from the non-epithelial elements of the mammary gland. Malignant peripheral nerve sheath tumors comprise 5-10% of all malignant soft tissue sarcomas. Its heterogeneity and low incidence (1 in 100,000) limit the performance of prospective studies. Therefore, most published articles include individual reports and case series with a small number of patients, making it impossible to determine clear treatment standards in this scenario. A 36-year-old young woman with no personal history consulted the National Cancer Institute of Colombia with a 1-year progression of a rapidly growing mass in her left breast until reaching an approximate tumor size of 20 × 20 cm. Histopathological analysis with a tru-cut biopsy taken from the lesion revealed the presence of a breast sarcoma with positive staining for SOX-10 and S-100. A radical mastectomy as her first treatment included the resection of a costal arch and, therefore, the reconstruction of the chest wall with coverage of the defect with an extended latissimus dorsi flap followed by consolidation therapy with adjuvant radiotherapy (RT) and chemotherapy. Evidence regarding malignant peripheral nerve sheath sarcoma of the breast treatment corresponds to retrospective analyses and case reports with high heterogeneity and variability about strategies in surgical procedures and adjunctive therapy such as complementary chemotherapy and RT; therapeutic approach should always include a multidisciplinary team.

Cutaneous myiasis in skin cancer and malignant wounds: a systematic review.

BACKGROUND: Cutaneous myiasis in patients with malignant wounds or skin cancer is a rare and undesirable event with limited epidemiological data. A subregister of reports, lack of education in the population, inadequate empirical treatments, and medical underestimation are components of a public health problem that threatens patients' lives. METHODS: We conducted a systematic review of the literature of cutaneous myiasis associated with malignant wounds and skin cancer, characterizing sociodemographic variables, risk factors, clinical and histological features, and treatment. Additionally, we present a demonstrative case with the adequate taxonomic evaluation. DISCUSSION: Cutaneous myiasis is an underestimated and poorly managed infestation, which can generate severe complications in oncological patients. This is the first systematic review in the literature about this clinical scenario, which provides information to the physician and clinical researcher about the epidemiological gaps and what has been published so far. CONCLUSIONS: Findings from the current review have helped to display the sociodemographic, epidemiological, and clinical behavior of myiasis in skin cancer and malignant wounds. Its contribution to the greater tumor tissue destruction is clear; however, more studies are required. The therapeutic management in these patients is equally clarified.

Nefropatía por tóxicos: la cocaína y su potente daño renal / Toxic nephropathy: cocaine and its potent kidney damage

Resumen El consumo de sustancias ilícitas en menores de 16 años y en adultos jóvenes se incrementa cada día en Colombia, por lo cual se presentan complicaciones asociadas que sería inusual encontrar en este grupo poblacional. El presente reporte de caso muestra cómo el uso de cocaína llevó a un paciente joven a desarrollar daño renal agudo con requerimiento de terapia de reemplazo renal, lo que en los hallazgos histológicos puede corresponder a una glomerulonefritis rápidamente progresiva o a una enfermedad tubulointersticial tipo necrosis tubular aguda o nefritis intersticial aguda.

Abstract In Colombia, the consumption of illicit substances increases daily. The increase and related consumption in the population involves both young people under 16 and young adults. Therefore, there are complications associated with the consumption of these substances that otherwise, would be unusual to find in this population group. In this case report, we will review how the use of cocaine led a young patient to the development acute kidney injury requiring renal replacement therapy, which in the histological findings may correspond to rapidly progressive glomerulonephritis, or tubulointerstitial disease either acute renal tubular necrosis or acute interstitial nephritis.

Aspiration in the Fiberoptic Endoscopic Evaluation of Swallowing Associated with an Increased Risk of Mortality in a Cohort of Patients Suspected of Oropharyngeal Dysphagia.

There is a general lack of published studies on the risk of mortality due to alterations in the safety of swallowing detected during the fiberoptic endoscopic evaluation of swallowing (FEES). We aimed at assessing the risk of mortality of the detection of aspiration, penetration, and pharyngeal residues by FEES. A cohort of consecutively evaluated patients suspected of experiencing oropharyngeal dysphagia undergoing FEES at a tertiary care university hospital were prospectively followed up on to assess mortality. The FEES findings, comorbidities, and potential confounders were studied as predictors of death using a Cox multivariate regression analysis. A total of 148 patients were included, 85 of whom were male (57.4%). The mean age (± standard deviation) was 52.7 years (± 22.1). The median of the follow-up time was 4.5 years. The most frequent conditions were stroke in 50 patients (33.8%), brain and spine traumas in 27 (18.2%), and neurodegenerative diseases in 19 (12.8%). Variables associated with mortality in bivariate analyses were age > 65 years (p < 0.001), pneumonia (p = 0.046), aspiration of any consistency (p < 0.001), and pharyngeal residues (p = 0.017). Variables independently associated with mortality in the Cox multivariate model were age (> 65 years) [adjusted hazard ratio (HR) 5.76; 95% CI 2.72 to 17.19; p = 0.001] and aspiration (adjusted HR: 3.96; 95% CI 1.82 to 14.64; p = 0.003). Aspiration detected by FEES and an age > 65 years are independent predictors of mortality in patients with oropharyngeal dysphagia.

Angiokeratomas, not everything is Fabry disease.

INTRODUCTION: Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals. METHODS AND CASE: We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case. DISCUSSION: Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation. CONCLUSION: This is an academic-clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up-to-date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.

Drug reaction with eosinophilia and systemic symptoms (DRESS) and multiple organ dysfunction syndrome (MODS): one more reason for a new effective treatment against leishmaniasis.

INTRODUCTION: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe drug-induced reaction associated with eosinophilia and systemic manifestations. Anticonvulsants, sulfonamides, and antivirals are the most related and described drugs in DRESS syndrome. METHODS AND CASE: We present a case of severe multiple organ dysfunction syndrome (MODS) with the risk of death associated with DRESS syndrome due to antileishmanial pentavalent antimonial drug and its simultaneous toxicity. Consequently, a comprehensive review of the main clinical problems and comparative discussion of both clinical conditions was made. DISCUSSION: The overlap of DRESS syndrome and antileishmanial pentavalent antimonial drug toxicity can be life-threatening. Both conditions represent a true clinical, diagnostic, and therapeutic challenge. We exposed specific clinical and laboratory results with rare occurrence. CONCLUSION: Any physician and dermatologists should keep in mind the broad spectrum of clinical manifestations and laboratory findings associated with the use of pentavalent antimonial drugs. The clinical suspicion, an early diagnosis, and aggressive treatment are essential to prevent complications and death.

Early intervention in scar management and cutaneous burns with autologous platelet-rich plasma.

Burn management options are controversial and a multiple-handled issue. However, platelet-rich plasma is gaining interest in several medical fields. Dermatologist worldwide are already publishing some reports about its benefits and personal experiences in their practices. A 40-year-old female with a second-degree burn by VASER-type liposculpture was treated with platelet-rich plasma and followed up for 10 months. After treatment, she showed rapid improvement with an adequate cicatrization results. Some studies suggest that the use of platelet-rich plasma which contains cytokines and growth factors that participate in cellular repair and cellular differentiation, thus improving healing time and re-epithelization. We present the case of a patient with a second-degree burn that rapidly improved with autologous platelet-rich plasma.