TY  - JOUR
AU  - Scarpelli, Ilaria
AU  - Marcelli, Fabienne
AU  - Mattioli, Francesca
AU  - Schoumans, Jacqueline
PY  - 2019
DA  - 2019/08/09
TI  - Next-Generation Sequencing-Based Testing in Diagnostic Oncohematology: Untangling the Knots
JO  - OBM Genetics
SP  - 088
VL  - 03
IS  - 03
AB  - With the advent of next generation sequencing (NGS), genomic profiling of tumors has gradually been introduced into the clinical setting and become a standard in cancer care.  NGS allows easier, faster and cheaper sequencing and commercially available panels enable the detection of single or global genomic alterations, of germline and somatic origin. Genomic mutation profiling using NGS is today indispensable for disease evaluation and prediction of prognosis or responsiveness to cancer therapy. 

However, the challenges that are met when applying NGS testing for diagnostic use are numerous in particular concerning interpretation and reporting. Current recommendations concern NGS mutation profiling in hereditary genetics and in somatic genetics applicable for solid tumour, but clear guidelines are lacking with regards to the specific challenges of applying NGS mutation analysis on haematological malignancies. 
In order to fill this gap, we here propose recommendations to handle the specific challenges of applying NGS mutation testing for confirmation of diagnosis, risk stratification and prediction of therapy response in the routine diagnostic workup of hematological neoplasia
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1903088
DO  - 10.21926/obm.genet.1903088
ID  - Scarpelli2019
ER  -