RESUMO
Melanoma can pose a significant diagnostic challenge due to the high variability in histological morphology and expression of non-melanocytic immunomarkers. We present a case of a 47-year-old male with an aggressive mediastinal neoplasm and disseminated disease posing several diagnostic challenges. Multiple biopsies were submitted from different anatomic locations and during multiple time points showing an undifferentiated round cell tumor (URCT) with synovial sarcoma-like immunophenotype. SS18::SSX fusion was sought through NGS study for diagnostic confirmation. NGS results revealed NRAS and CDKN2A mutations and absence of fusions, resulting in a new review of the histologic material with a broader immunohistochemical panel, finding strong positivity to melanic antibodies. This case is an illustrative example of a malignant melanoma with small round cell morphology showing aberrant expression of CD99, BCL2, TLE1 and SS18-SSX antibodies exposing a potentially hazardous pitfall highlighting the importance of a wide differential diagnosis and the role of confirmational studies with molecular tests.
RESUMO
Current diagnostic algorithms are insufficient for the optimal clinical and therapeutic management of cutaneous spitzoid tumors, particularly atypical spitzoid tumors (AST). Therefore, it is crucial to identify new markers that allow for reliable and reproducible diagnostic assessment and can also be used as a predictive tool to anticipate the individual malignant potential of each patient, leading to tailored individual therapy. Using Reduced Representation Bisulfite Sequencing (RRBS), we studied genome-wide methylation profiles of a series of Spitz nevi (SN), spitzoid melanoma (SM), and AST. We established a diagnostic algorithm based on the methylation status of seven cg sites located in TETK4P2 (Tektin 4 Pseudogene 2), MYO1D (Myosin ID), and PMF1-BGLAP (PMF1-BGLAP Readthrough), which allows the distinction between SN and SM but is also capable of subclassifying AST according to their similarity to the methylation levels of Spitz nevi or spitzoid melanoma. Thus, our epigenetic algorithm can predict the risk level of AST and predict its potential clinical outcomes.
Assuntos
Melanoma , Nevo , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Algoritmos , MetilaçãoRESUMO
A amebiase mantem sua importancia epidemiologica em paises subdesenvolvidos onde sua prevalencia a converteu na parasitose de maior morbidade e mortalidade apos malaria e esquistossomose. Em regra, tanto o diagnostico clinico como os levantamentos epidemiologicos assentam na identificacao microscopica de cistos e/ou trofozoitos em extractos fecais. Este procedimento requer pessoal muito bem treinado, e laborioso, e frequentemente fornece resultados contraditorios. Para obviar estas dificuldades, no presente trabalho montamos uma tecnica de diagnostico imunoenzimatico baseado na captura de um antigeno de 96 kDa presente nas fezes de individuos infectados pela E. hystolytica (COPROELISA-Eh). Triplicatas de 117 amostras fecais processadas pelo metodo de concentracao formol eter foram definidas como positivas ou negativas por tres microscopistas especialistas em amebiase...
Assuntos
Humanos , Amebíase/epidemiologia , Enteropatias Parasitárias/diagnóstico , Amebíase/imunologia , Anticorpos Monoclonais , Antígenos de Protozoários , Ensaio de Imunoadsorção Enzimática , Sensibilidade e EspecificidadeRESUMO
En un estudio multicéntrico fueron recolectadas 970 muestras de suero provenientes de personal trabajador del área de la salud. La presencia de marcadores serológicos del VHB (AgsHB, antisuperficie y anticore total) fue analizada mediante técnica de microELISA. Doscientos cuarenta y siete muestras presentaron uno o más marcadores positivos (27%), siendo el marcador prevalente el antisuperficie cuyo índice de positividad resultó significativo en las diferentes áreas consideradas de menor exposición como medicina interna (24.7%). La proporción de muestras antisuperficie positivas fue además significativamenté superior en el grupo con más de 10 años de labor sanitaria en comparación con la prevalencia demostrada por el grupo con menos de 5 años de servicio (19.1 vs 12.8%). Los grupos considerados con menor riesgo de exposición, contrariamente a lo que podría esperarse, demostraron una prevalencia igual e incluso superior a la demostrada en grupos con exposición contínua o frecuente (17.7 vs 8.6%). Nuestros hallazgos sugieren la permanencia ambiental de carga viral circulante del VHB a nivel intrahospitalario venezuelano