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 …

Increasing awareness about germline predisposition and the widespread application of
unbiased whole exome sequencing contributed to the discovery of new clinical entities with …

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

The inclusion of familial myeloid malignancies as a separate disease entity in the revised
WHO classification has renewed efforts to improve the recognition and management of this …

Recognition that germline mutations can predispose individuals to blood cancers, often
presenting as secondary leukemias, has largely been driven in the last 20 years by studies …

Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as
novel entities in the latest World Health Organization (WHO) classification for MNs …

Inherited or de novo germ line heterozygous mutations in the gene encoding the
transcription factor GATA2 lead to its deficiency. This results in a constellation of clinical …

Over the last decade, the field of hereditary haematological malignancy syndromes
(HHMSs) has gained increasing recognition among clinicians and scientists worldwide …

Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …

Patients with GATA2 deficiencyharbor de novo or inherited germline mutations in the GATA2
transcription factor gene, predisposing them to myeloid malignancies. There is considerable …