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 …

Natural killer cell-mediated immunosurveillance of human cancer

KJ Malmberg, M Carlsten, A Björklund, E Sohlberg… - Seminars in …, 2017 - Elsevier
The contribution of natural killer (NK) cells to immunosurveillance of human cancer remains
debatable. Here, we discuss advances in several areas of human NK cell research, many of …

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

SS Sahoo, VB Pastor, C Goodings, RK Voss… - Nature medicine, 2021 - nature.com
Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Cord blood NK cells engineered to express IL-15 and a CD19-targeted CAR show long-term persistence and potent antitumor activity

E Liu, Y Tong, G Dotti, H Shaim, B Savoldo… - Leukemia, 2018 - nature.com
Chimeric antigen receptors (CARs) have been used to redirect the specificity of autologous
T cells against leukemia and lymphoma with promising clinical results. Extending this …

Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages

S Feurstein, AM Trottier, N Estrada-Merly… - Blood, The Journal …, 2022 - ashpublications.org
The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

O Bluteau, M Sebert, T Leblanc… - Blood, The Journal …, 2018 - ashpublications.org
Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be
inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 …

Sequencing of human genomes with nanopore technology

R Bowden, RW Davies, A Heger… - Nature …, 2019 - nature.com
Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in
diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the …

Natural killer cells in myeloid malignancies: immune surveillance, NK cell dysfunction, and pharmacological opportunities to bolster the endogenous NK cells

M Carlsten, M Järås - Frontiers in immunology, 2019 - frontiersin.org
Natural killer (NK) cells are large granular lymphocytes involved in our defense against
certain virus-infected and malignant cells. In contrast to T cells, NK cells elicit rapid anti …

Monogenic and polygenic inheritance become instruments for clonal selection

PR Loh, G Genovese, SA McCarroll - Nature, 2020 - nature.com
Clonally expanded blood cells that contain somatic mutations (clonal haematopoiesis) are
commonly acquired with age and increase the risk of blood cancer,,,,,,,–. The blood clones …

The genomic landscape of pediatric myelodysplastic syndromes

JR Schwartz, J Ma, T Lamprecht, M Walsh… - Nature …, 2017 - nature.com
Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In
contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here …