Adult-onset hereditary myeloid malignancy and allogeneic stem cell transplantation

T Toya, H Harada, Y Harada, N Doki - Frontiers in Oncology, 2022 - frontiersin.org
Hereditary myeloid malignancies, especially in adults or elderly persons, had been
considered quite rare before the next-generation sequencing era; however, increased …

Germline and somatic drivers in inherited hematologic malignancies

J Zoller, D Trajanova, S Feurstein - Frontiers in Oncology, 2023 - frontiersin.org
Inherited hematologic malignancies are linked to a heterogenous group of genes,
knowledge of which is rapidly expanding using panel-based next-generation sequencing …

Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia

A Eriksson, M Engvall, L Mathot, A Österroos… - Clinical Cancer …, 2023 - AACR
Purpose: In acute myeloid leukemia (AML), somatic mutations (commonly missense,
nonsense, and frameshift indels) in RUNX1 are associated with a dismal clinical outcome …

The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression

D Cabrerizo Granados, I Barbosa… - Genes …, 2023 - Wiley Online Library
Germline RUNX1 mutations lead to familial platelet disorder with associated myeloid
malignancy (FPDMM), characterized by thrombocytopenia, abnormal bleeding, and an …

[HTML][HTML] An insight on the role of genetic testing of RUNX1: A key transcriptional gene in familial platelet disorder with predisposition to acute myeloid leukemia

I Mehdi, K Ramya, TL Suma, A Mannan… - Pediatric Hematology …, 2023 - Elsevier
Background Familial platelet disorder (FPD) with predisposition to acute myeloid leukemia
(AML) is an autosomal dominant disease of the hematopoietic system that is caused by …