Hémopathies héréditaires (mutations germinales)

-Mise au point des érythrocytoses chez l'enfant et l'adolescent 
-Genetic predisposition syndromes: When should they be considered in the work-up of MDS?
 

Hémopathies aquises (mutations somatiques)

Classification OMS des tumeurs hématopoiétiques et des tissus lymphoïdes

- The 2016 revision to the World Health Organization classification of lymphoid neoplasms
- The 2016 revision to the World Health Organization classification of lymphoid neoplasms
and acute leukemia Arber Blood May 2016
  1. Supplemental materials for Arber et al
Impacts diagnostic et pronostic des mutations somatiques dans les NMP, SMD & OS
- Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms - A report of the Association for Molecular Pathology
Impacts diagnostic et pronostic des mutations somatiques dans les LMA
- The 2016 revision to the World Health Organization classification of lymphoid neoplasms
and acute leukemia Arber Blood May 2016
- Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel
Impacts diagnostic et pronostic des mutations somatiques dans les SMD
 - Myelodysplastic Syndromes, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology
Impacts diagnostic et pronostic des mutations somatiques dans les Overlap syndromes (LMMC, LMC-Phi-neg,...)
- Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management
- Current and evolving understanding of atypical chronic myeloid leukemia
Impacts diagnostic et pronostic des mutations somatiques dans les Mastocytose

- Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology 

- Advances in diagnosis of mastocytosis and hypereosinophilic syndrome

 

Médecine personnalisée/de précision: tumeurs solides

Carcinomes colorectaux

-RAS mutations in colorectal cancer
-Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer  
-KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in KRAS codon 12 and 13 wild-type metastatic colorectal cancer 
 
Carcinomes pulmonaires
-Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 
-Companion-diagnostic testing limited to KRAS codons 12 and 13 misses 17% of potentially relevant RASmutations in colorectal cancer 
-Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.