Myelodysplastic syndromes

M Cazzola - New England Journal of Medicine, 2020 - Mass Medical Soc
Myelodysplastic Syndromes MDS are clonal hematopoietic disorders involving morphologic
defects and peripheral-blood cytopenias, with a risk of progression to acute myeloid …

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile …

M Rudelius, OK Weinberg, CM Niemeyer… - Virchows Archiv, 2023 - Springer
Updating the classification of hematologic neoplasia with germline predisposition, pediatric
myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) is critical …

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

AL Kennedy, KC Myers, J Bowman, CJ Gibson… - Nature …, 2021 - nature.com
To understand the mechanisms that mediate germline genetic leukemia predisposition, we
studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone …

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances

CR Reilly, A Shimamura - Blood, 2023 - ashpublications.org
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy
characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to …

[HTML][HTML] Shwachman-Diamond syndromes: Clinical, genetic, and biochemical insights from the rare variants

N Kawashima, U Oyarbide, M Cipolli, V Bezzerri… - …, 2023 - ncbi.nlm.nih.gov
Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome
characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities …

[HTML][HTML] Hematopoietic cell transplantation in the treatment of pediatric acute myelogenous leukemia and myelodysplastic syndromes: guidelines from the American …

K Tarlock, ML Sulis, JH Chewning, JA Pollard… - … and Cellular Therapy, 2022 - Elsevier
The role of allogeneic hematopoietic stem cell transplantation (HCT) in the treatment of
acute myelogenous leukemia (AML) in children is reviewed and critically evaluated in this …

Hematologic complications with age in Shwachman-Diamond syndrome

E Furutani, S Liu, A Galvin, S Steltz… - Blood …, 2022 - ashpublications.org
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with
leukemia predisposition. An understanding of the hematologic complications of SDS with …

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

M Hakkarainen, I Kaaja, SPM Douglas… - Blood, The Journal …, 2023 - ashpublications.org
Biallelic germ line excision repair cross-complementing 6 like 2 (ERCC6L2) variants
strongly predispose to bone marrow failure (BMF) and myeloid malignancies, characterized …

Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf …

C Gurnari, M Robin, LA Godley… - The Lancet …, 2023 - thelancet.com
The recent application of whole exome or whole genome sequencing unveiled a plethora of
germline variants predisposing to myeloid disorders, particularly myelodysplastic …

Lessons from pediatric MDS: approaches to germline predisposition to hematologic malignancies

S Avagyan, A Shimamura - Frontiers in oncology, 2022 - frontiersin.org
Pediatric myelodysplastic syndromes (MDS) often raise concern for an underlying germline
predisposition to hematologic malignancies, referred to as germline predisposition herein …