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 …

Childhood cancer predisposition syndromes—a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric …

T Ripperger, SS Bielack, A Borkhardt… - American journal of …, 2017 - Wiley Online Library
Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …

International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data

DA Arber, A Orazi, RP Hasserjian… - Blood, The Journal …, 2022 - ashpublications.org
The classification of myeloid neoplasms and acute leukemias was last updated in 2016
within a collaboration between the World Health Organization (WHO), the Society for …

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 …

Mutations in AML: prognostic and therapeutic implications

CD DiNardo, JE Cortes - Hematology 2014, the American …, 2016 - ashpublications.org
Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized
by the proliferation and aberrant differentiation of immature clonal myeloid cells. The …

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

B Tesi, J Davidsson, M Voss… - Blood, The Journal …, 2017 - ashpublications.org
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been
identified. We studied 2 families with cytopenia, predisposition to MDS with chromosome 7 …

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 …

GATA factor mutations in hematologic disease

JD Crispino, MS Horwitz - Blood, The Journal of the American …, 2017 - ashpublications.org
GATA family proteins play essential roles in development of many cell types, including
hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3 …

Genetic predisposition to hematologic malignancies: management and surveillance

LA Godley, A Shimamura - Blood, The Journal of the American …, 2017 - ashpublications.org
As individuals with germ line predisposition to hematologic malignancies are diagnosed
with increasing frequency, the need for clinical surveillance has become apparent …

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile …

M Rudelius, OK Weinberg, CM Niemeyer… - Virchows Archiv, 2023 - Springer
Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …