Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

H Döhner, E Estey, D Grimwade… - Blood, The Journal …, 2017 - ashpublications.org
The first edition of the European LeukemiaNet (ELN) recommendations for diagnosis and
management of acute myeloid leukemia (AML) in adults, published in 2010, has found …

Role of RUNX1 in hematological malignancies

R Sood, Y Kamikubo, P Liu - … Journal of the American Society of …, 2017 - ashpublications.org
RUNX1 is a member of the core-binding factor family of transcription factors and is
indispensable for the establishment of definitive hematopoiesis in vertebrates. RUNX1 is …

NCCN guidelines insights: acute myeloid leukemia, version 2.2021: featured updates to the NCCN guidelines

DA Pollyea, D Bixby, A Perl, VR Bhatt… - Journal of the National …, 2021 - jnccn.org
The NCCN Guidelines for Acute Myeloid Leukemia (AML) provide recommendations for the
diagnosis and treatment of adults with AML based on clinical trials that have led to …

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms

H Makishima, R Saiki, Y Nannya, S Korotev, C Gurnari… - Blood, 2023 - ashpublications.org
Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs).
Despite an increasing number of publications, many important features of DDX41-mutated …

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 …

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 …

Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

Somatic and germline genomics in paediatric acute lymphoblastic leukaemia

CH Pui, KE Nichols, JJ Yang - Nature reviews Clinical oncology, 2019 - nature.com
Advances in genomic research and risk-directed therapy have led to improvements in the
long-term survival and quality of life outcomes of patients with childhood acute lymphoblastic …

Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML

F Yang, N Long, T Anekpuritanang… - Blood, The Journal …, 2022 - ashpublications.org
Inherited predisposition to myeloid malignancies is more common than previously
appreciated. We analyzed the whole-exome sequencing data of paired leukemia and skin …