Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges

K Tawana, AL Brown… - British journal of …, 2022 - Wiley Online Library
Over the last decade, the field of hereditary haematological malignancy syndromes
(HHMSs) has gained increasing recognition among clinicians and scientists worldwide …

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

AL Brown, P Arts, CL Carmichael, M Babic… - Blood …, 2020 - ashpublications.org
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a
well-established cause of familial platelet disorder with predisposition to myeloid …

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic …

A Förster, M Decker, B Schlegelberger, T Ripperger - Cancers, 2022 - mdpi.com
Simple Summary Pathogenic germline variants affecting RUNX1 are associated with
qualitative and/or quantitative platelet defects, and predispose to hematologic malignancies …

RUNX1 loss renders hematopoietic and leukemic cells dependent on IL-3 and sensitive to JAK inhibition

AC Fan, Y Nakauchi, L Bai, A Azizi… - The Journal of …, 2023 - Am Soc Clin Investig
Disease-initiating mutations in the transcription factor RUNX1 occur as germline and
somatic events that cause leukemias with particularly poor prognosis. However, the role of …

Expression of RUNX1-JAK2 in Human induced pluripotent stem cell-derived hematopoietic cells activates the JAK-STAT and MYC pathways

K Fortschegger, AM Husa, D Schinnerl… - International Journal of …, 2021 - mdpi.com
A heterogeneous genetic subtype of B-cell precursor acute lymphoblastic leukemia is driven
by constitutive kinase-activation, including patients with JAK2 fusions. In our study, we …

[HTML][HTML] First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

AC Glembotsky, CPM Oyarzún, G De Luca… - …, 2020 - ncbi.nlm.nih.gov
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is
an autosomal dominant condition characterized by abnormal platelet number and function …

Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies

BKL Duarte, GG Yamaguti‐Hayakawa… - British journal of …, 2019 - Wiley Online Library
The mechanisms by which patients with RUNX 1 familial platelet disorder with propensity to
myeloid malignancies (FPDMM) develop myeloid malignancies (MM) are not fully …

Adaptor protein LNK promotes anaplastic thyroid carcinoma cell growth via 14-3-3 ε/γ binding

ZM Zhong, X Chen, X Qi, XM Wang, CY Li, RJ Qin… - Cancer Cell …, 2020 - Springer
Background Rapid progression contributes to treatment failure in anaplastic thyroid
carcinoma (ATC) patients. In a preliminary study, we demonstrated that some hematopoietic …

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin

S Bagla, KA Regling, EN Wakeling… - Pediatric Hematology …, 2020 - Taylor & Francis
RUNX1 associated familial platelet disorder (FPD) is a rare autosomal dominant
hematologic disorder characterized by thrombocytopenia and/or altered platelet function …

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 …