Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

DV Babushok, M Bessler, TS Olson - Leukemia & lymphoma, 2016 - Taylor & Francis
Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective
hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia …

Diagnosis, treatment, and molecular pathology of Shwachman-Diamond syndrome

AS Nelson, KC Myers - Hematology/Oncology Clinics, 2018 - hemonc.theclinics.com
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive inherited bone marrow
failure (BMF) disorder characterized by exocrine pancreatic dysfunction, BMF, and …

Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian …

F Fioredda, D Onofrillo, P Farruggia… - Pediatric Blood & …, 2022 - Wiley Online Library
Neutropenia refers to a group of diseases characterized by a reduction in neutrophil levels
below the recommended age threshold. The present study aimed to review the diagnosis …

[HTML][HTML] Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome

K Myers, K Hebert, J Antin, F Boulad… - Biology of Blood and …, 2020 - Elsevier
We report the outcomes of hematopoietic stem cell transplantation (HSCT) for 52 patients
with Shwachman-Diamond syndrome (SDS) who underwent transplantation between 2000 …

Mechanisms of somatic transformation in inherited bone marrow failure syndromes

HB Choijilsuren, Y Park, M Jung - Hematology, 2021 - ashpublications.org
Inherited bone marrow failure syndromes (IBMFS) cause hematopoietic stem progenitor cell
(HSPC) failure due to germline mutations. Germline mutations influence the number and …

Mechanisms of leukemic transformation in congenital neutropenia

DC Link - Current opinion in hematology, 2019 - journals.lww.com
Both HSC cell-intrinsic and noncell-intrinsic changes contribute to the development of clonal
hematopoiesis in congenital neutropenia and likely accounts for the high rate of leukemic …

Myelodysplastic neoplasms evolving from inherited bone marrow failure syndromes/germline predisposition syndromes: Back under the microscope

MT Elghetany, MM Patnaik, JD Khoury - Leukemia Research, 2024 - Elsevier
Inherited bone marrow failure syndromes and germline predisposition syndromes
(IBMFS/GPS) are associated with increased risk for hematologic malignancies, particularly …

[HTML][HTML] Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation

N Waespe, M Van Den Akker, RJ Klaassen… - …, 2016 - ncbi.nlm.nih.gov
Advanced myelodysplastic syndrome harbors a high risk of progression to acute myeloid
leukemia and poor prognosis. In children, there is no established treatment to prevent or …

How we diagnose and treat neutropenia in adults

J Palmblad, CC Nilsson, P Höglund… - Expert review of …, 2016 - Taylor & Francis
Neutropenias (NPs), being acute and often transient, or chronic, range from life-threatening
conditions with very low absolute neutrophil blood counts (ANC) to disorders characterized …

Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium

TA Nakano, BW Lau, KE Dickerson… - Pediatric Blood & …, 2020 - Wiley Online Library
Background Myelodysplastic syndromes (MDS) represent a group of clonal hematopoietic
stem cell disorders that commonly progress to acute myeloid leukemia (AML). The …