Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely
critical to appropriate management, especially differentiating between acquired and …

Myeloid neoplasms and acute leukemias derive from the clonal expansion of hematopoietic
cells driven by somatic gene mutations. Although assessment of morphology plays a crucial …

Biological events that contribute to the pathogenesis of myelodysplastic
syndromes/neoplasms (MDS) are becoming increasingly characterized and are being …

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 …

There is increasing recognition that pathogenic germ line variants drive the development of
hematopoietic cancers in many individuals. Currently, patients with hereditary hematologic …

The majority of studies assessing the contribution of pathogenic germline variants (PGVs) to
cancer predisposition have focused on patients with single cancers. We analyzed 45 known …

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

Biallelic germ line excision repair cross-complementing 6 like 2 (ERCC6L2) variants
strongly predispose to bone marrow failure (BMF) and myeloid malignancies, characterized …

Broader genetic screening has led to the growing recognition of the role of germline variants
associated with adult bone marrow failure (BMF) and myeloid neoplasia (MN) not …

Genetic testing has been applied for decades in clinical routine diagnostics of hematological
malignancies to improve disease (sub) classification, prognostication, patient management …