RESUMEN
Nodal marginal zone lymphoma (NMZL) is a rare type of B-cell non-Hodgkin lymphoma. This study assessed the clinical features of 56 patients with NMZL in comparison to 46 patients with follicular lymphoma (FL). Patients with NMZL and FL had a largely similar clinical presentation, but patients with FL had a higher disease stage at presentation, more frequent abdominal lymphadenopathy and bone marrow involvement, and showed more common transformation into diffuse large B-cell lymphoma (DLBCL) during the course of disease. Overall survival and event-free survival were similar for patients with NMZL and FL, but factors associated with worse prognosis differed between the two groups. Transformation into DLBCL was associated with a significantly poorer outcome in both groups, but the phenotypes were different: DLBCL arising in FL was mainly of germinal center B-cell phenotype, whereas DLBCL arising in NMZL was mainly of non-germinal center B-cell phenotype.
Asunto(s)
Linfoma de Células B de la Zona Marginal/diagnóstico , Linfoma de Células B de la Zona Marginal/mortalidad , Linfoma Folicular/diagnóstico , Linfoma Folicular/mortalidad , Adulto , Anciano , Anciano de 80 o más Años , Transformación Celular Neoplásica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Metástasis de la Neoplasia , Estadificación de Neoplasias , Fenotipo , Pronóstico , Análisis de Supervivencia , Evaluación de Síntomas , Adulto JovenRESUMEN
Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe.
Asunto(s)
Ensayos Analíticos de Alto Rendimiento , Técnicas de Diagnóstico Molecular/métodos , Neoplasias/diagnóstico , Patología Molecular/métodos , Europa (Continente) , Ensayos Analíticos de Alto Rendimiento/normas , Humanos , Laboratorios/normas , Técnicas de Diagnóstico Molecular/normas , Neoplasias/patología , Patología Molecular/normas , Patología Molecular/tendencias , Control de Calidad , Reproducibilidad de los ResultadosRESUMEN
Lynch syndrome is the most common cause of hereditary intestinal cancer, with a 30-70% risk of colorectal cancer (CRC). Prevention of CRC by colonoscopy in family members with Lynch syndrome is highly effective; therefore, it is important to trace as many people with this syndrome as possible. Criteria have been developed in the Netherlands to increase detection of hereditary colorectal cancer in a practically feasible and cost-effective way. Based on these criteria, the pathologist can perform microsatellite instability testing in patients recently diagnosed with CRC. The criteria are: CRC under the age of 50, second CRC under the age of 70, or CRC under the age of 70 with a concurrent or previous malignancy associated with Lynch syndrome. For family members and patients diagnosed with CRC more than a year ago, a digital test can be used to determine whether genetic counselling by a geneticist is indicated (www.umcn.nl/verwijzers).
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Pruebas Genéticas/métodos , Inestabilidad de Microsatélites , Factores de Edad , Anciano , Colonoscopía , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/prevención & control , Neoplasias Colorrectales Hereditarias sin Poliposis/prevención & control , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Medición de RiesgoRESUMEN
In this case report, we describe a 5-month-old girl with a rapid-growing mass of the lower lip extending to the buccal cheek. After surgical interference, the diagnosis lipoblastoma was made. Dealing with a fast-growing tumor in an infant, lipoblastic tumors belong in the differential diagnosis, however, a malignant process cannot be excluded. Rapid-growing lipoblastoma of infancy is a very rare benign tumor of embryonic white fatty cells. Magnetic resonance imaging might help with the diagnosis and often shows a lesion composed mostly, but not entirely, of fat. In this case report, we want to draw attention to the problems with diagnosis and therapeutic management of children with lipoblastoma.