Advances in germline predisposition to acute leukaemias and myeloid neoplasms

JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

Juvenile myelomonocytic leukemia: who's the driver at the wheel?

CM Niemeyer, C Flotho - Blood, The Journal of the American …, 2019 - ashpublications.org
Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of
early childhood. It is classified as an overlap myeloproliferative/myelodysplastic neoplasm …

MDS overlap disorders and diagnostic boundaries

TN Tanaka, R Bejar - Blood, The Journal of the American …, 2019 - ashpublications.org
Myelodysplastic syndromes (MDS) are clonal diseases defined by clinical, morphologic, and
genetic features often shared by related myeloid disorders. The diagnostic boundaries …

Response to upfront azacitidine in juvenile myelomonocytic leukemia in the AZA-JMML-001 trial

CM Niemeyer, C Flotho, DB Lipka, J Starý… - Blood …, 2021 - ashpublications.org
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative therapy for
most children with juvenile myelomonocytic leukemia (JMML). Novel therapies controlling …

Differential methylation analysis of reduced representation bisulfite sequencing experiments using edgeR

Y Chen, B Pal, JE Visvader, GK Smyth - F1000Research, 2018 - pmc.ncbi.nlm.nih.gov
Cytosine methylation is an important DNA epigenetic modification. In vertebrates,
methylation occurs at CpG sites, which are dinucleotides where a cytosine is immediately …

International consensus definition of DNA methylation subgroups in juvenile myelomonocytic leukemia

M Schönung, J Meyer, P Nöllke, AB Olshen… - Clinical Cancer …, 2021 - AACR
Purpose: Known clinical and genetic markers have limitations in predicting disease course
and outcome in juvenile myelomonocytic leukemia (JMML). DNA methylation patterns in …

JMML genomics and decisions

CM Niemeyer - Hematology 2014, the American Society of …, 2018 - ashpublications.org
Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of
early childhood characterized by hyperactivation of the RAS signal transduction pathway …

The translational status of cancer liquid biopsies

S Bratulic, F Gatto, J Nielsen - Regenerative Engineering and …, 2021 - Springer
Precision oncology aims to tailor clinical decisions specifically to patients with the objective
of improving treatment outcomes. This can be achieved by leveraging omics information for …

Current treatment of juvenile myelomonocytic leukemia

C Mayerhofer, CM Niemeyer, C Flotho - Journal of Clinical Medicine, 2021 - mdpi.com
Juvenile myelomonocytic leukemia (JMML) is a rare pediatric leukemia characterized by
mutations in five canonical RAS pathway genes. The diagnosis is made by typical clinical …

FAS and RAS related Apoptosis defects: From autoimmunity to leukemia

S Meynier, F Rieux‐Laucat - Immunological reviews, 2019 - Wiley Online Library
The human adaptive immune system recognizes almost all the pathogens that we encounter
and all the tumor antigens that may arise during our lifetime. Primary immunodeficiencies …