Parámetros de detección precoz de infección fúngica por aspergillus en el paciente hematológico

PO-267 Introducción: La infección fúngica invasiva (IFI) por Aspergillus es una de las principales micosis invasivas en el paciente hematológico y una importante causa de morbimortalidad. Es más frecuente en pacientes con leucemia aguda mieloide, trasplante de progenitores hematopoyéticos alogénico, enfermedad injerto contra receptor activa o neutropenia prolongada. Supone un reto diagnóstico, siendo preciso el empleo de múltiples técnicas microbiológicas y radiológicas. Avances recientes en el diagnóstico, en la profilaxos y en el tratamiento antifúngico precoz, han reducido considerablemente la mortalidad asociada a esta infección. Objetivos: Determinar si los marcadores diagnósticos empleados en la práctica clínica habitual permiten un diagnóstico precoz de IFI, si la determinación de bismetilgliotoxina (bmGT) en suero permite un diagnóstico precoz en pacientes con antígeno de galactomanano (AGA) en suero negativo y la exactitud diagnóstica de estos marcadores. ..

Treatment patterns and outcomes of 2310 patients with secondary acute myeloid leukemia : a PETHEMA registry study

This study was supported in part by the Jazz Pharmaceuticals and Cooperative Research Thematic Network (RTICC) grant RD12/0036/014 (ISCIII and ERDF)

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Next-Generation Sequencing has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia. However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. To overcome this challenge, the PETHEMA group established a nationwide network of reference laboratories aimed to deliver molecular results in the clinics. We report the technical cross-validation results for next-generation sequencing panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse acute myeloid leukemia. Two cross-validation rounds were performed in seven nationwide reference laboratories in order to reach a consensus regarding quality metrics criteria and variant reporting. In the pre-standardization cross-validation round, an overall concordance of 60.98% was obtained with a great variability in selected genes and conditions across laboratories. After consensus of relevant genes and optimization of quality parameters the overall concordance rose to 85.57% in the second cross-validation round. We show that a diagnostic network with harmonized next-generation sequencing analysis and reporting in seven experienced laboratories is feasible in the context of a scientific group

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Next-Generation Sequencing has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia. However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. To overcome this challenge, the PETHEMA group established a nationwide network of reference laboratories aimed to deliver molecular results in the clinics. We report the technical cross-validation results for next-generation sequencing panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse acute myeloid leukemia. Two cross-validation rounds were performed in seven nationwide reference laboratories in order to reach a consensus regarding quality metrics criteria and variant reporting. In the pre-standardization cross-validation round, an overall concordance of 60.98% was obtained with a great variability in selected genes and conditions across laboratories. After consensus of relevant genes and optimization of quality parameters the overall concordance rose to 85.57% in the second cross-validation round. We show that a diagnostic network with harmonized next-generation sequencing analysis and reporting in seven experienced laboratories is feasible in the context of a scientific group