RESUMO
Extranodal NK/T-cell lymphoma (ENKTL) is an Epstein-Barr virus (EBV) associated lymphoma, prevalent in Asia and Latin America. Studies in Asian cohorts have identified some recurrent gene mutations in ENKTL; however, the mutational landscape of ENKTL in Latin America is unknown. In this study, we investigated the mutational profile and EBV strains of 71 ENKTL cases from Latin America (42 from Mexico, 17 from Peru, and 12 from Argentina) and compared it with Asian cohorts. The mutational analysis was performed by next generation sequencing (NGS) using an Ion AmpliSeq™ custom panel covering for the most frequently mutated genes identified in ENKTL. STAT3 was the most frequent mutated gene (16 cases: 23%), followed by MSN (10 cases; 14%), BCOR (9 cases; 13%), DDX3X (6 cases; 8%), TP53 (6 cases; 8%), MGA (3 cases; 4%), JAK3 (2 cases; 3%), and STAT5B (1 case; 1%). Mutations in STAT3, BCOR, and DDX3X were nearly mutually exclusive, suggesting different molecular pathways involved in the pathogenesis of ENKTL; whereas mutations in MGA, MSN, and TP53 were concomitant with other mutations. Most cases (75%) carried Type A EBV without the 30-bp LMP1 gene deletion. The overall survival was significantly associated with serum LDH level, Eastern Cooperative Oncology Group (ECOG) performance status, International Prognostic Index (IPI) score, and therapy (p < 0.05), but not associated with any mutation, EBV strain or deletion in EBV LMP1 gene. In conclusion, mutational analysis of ENKTL from Latin America reveals frequent gene mutations leading to activation of the JAK-STAT pathway (25%), mostly STAT3. Compared to Asian cohorts, BCOR, DDX3X and TP53 mutations were also identified but with different frequencies. None of these mutations were associated with prognosis.
Assuntos
Infecções por Vírus Epstein-Barr/virologia , Herpesvirus Humano 4 , Linfoma Extranodal de Células T-NK/genética , Linfoma Extranodal de Células T-NK/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Mutacional de DNA , Feminino , Humanos , América Latina , Linfoma Extranodal de Células T-NK/patologia , Masculino , Pessoa de Meia-Idade , Mutação , Adulto JovemRESUMO
El lipoma es un tumos benigno constituido por tejido adiposo maduro cuya característica fundamental es el crecimiento lento asintomático. Se presenta un caso de lipoma intraoral de localización poco frecuente, en un paciente de sexo masculino de 71 años de edad
Assuntos
Humanos , Masculino , Idoso , Lipoma , Neoplasias Bucais , Diagnóstico Diferencial , Neoplasias de Cabeça e Pescoço , LipomaRESUMO
El acroespiroma es un tumor anexial de diferenciación ecrina que fue reconocido por una variada sinonimia. Es más frecuente en mujeres entre la 4§ y 8§ década con un pico de frecuencia a los 60 años. Presentamos un paciente masculino con lesión tumoral con cuero cabelludo, única, de dos años de evolución: con el diagnóstico de tumor anexial se procedió a la extirpación quirurgica y posterior estudio anátomopatológico
Assuntos
Humanos , Masculino , Adulto , Adenoma de Glândula Sudorípara/diagnóstico , Adenoma de Glândula Sudorípara/enzimologiaRESUMO
Presentamos un caso de un paciente que presenta pilomatrixoma asociado con anetodermia. Se realiza exéresis quirúrgica con posterior estudio anatomopatológico que reveló además de la histología característica de esta neoplasia, piel adyacente con ausencia casi completa de fibras elásticas