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Title: Molecular features of early onset adult myelodysplastic syndrome
Authors: Hirsch, Cassandra M.
Przychodzen, Bartlomiej P.
Radivoyevitch, Tomas
Patel, Bhumika
Thota, Swapna
Clemente, Michael J.
Nagata, Yasunobu
LaFramboise, Thomas
Carraway, Hetty E.
Nazha, Aziz
Sekeres, Mikkael A.
Makishima, Hideki  kyouindb  KAKEN_id  orcid (unconfirmed)
Maciejewski, Jaroslaw P.
Author's alias: 牧島, 秀樹
Issue Date: Jun-2017
Publisher: Ferrata Storti Foundation
Journal title: Haematologica
Volume: 102
Issue: 6
Start page: 1028
End page: 1034
Abstract: Myelodysplastic syndromes are typically diseases of older adults. Patients in whom the onset is early may have distinct molecular and clinical features or reflect a demographic continuum. The identification of differences between “early onset” patients and those diagnosed at a traditional age has the potential to advance understanding of the pathogenesis of myelodysplasia and may lead to formation of distinct morphological subcategories. We studied a cohort of 634 patients with various subcategories of myelodysplastic syndrome and secondary acute myeloid leukemia, stratifying them based on age at presentation and clinical parameters. We then characterized molecular abnormalities detected by next-generation deep sequencing of 60 genes that are commonly mutated in myeloid malignancies. The number of mutations increased linearly with age and on average, patients >50 years of age had more mutations. TET2, SRSF2, and DNMT3A were more commonly mutated in patients >50 years old compared to patients ≤50 years old. In general, patients >50 years of age also had more mutations in spliceosomal, epigenetic modifier, and RAS gene families. Although there are age-related differences in molecular features among patients with myelodysplasia, most notably in the incidence of SRSF2 mutations, our results suggest that patients ≤50 years old belong to a disease continuum with a distinct pattern of early onset ancestral events.
Rights: ©2017 Ferrata Storti Foundation. Material published in Haematologica is covered by copyright. All rights are reserved to the Ferrata Storti Foundation. Use of published material is allowed under the following terms and conditions: Copies of published material are allowed for personal or internal use. Sharing published material for non-commercial purposes is subject to the following conditions:, sect. 3. Reproducing and sharing published material for commercial purposes is not allowed without permission in writing from the publisher.
DOI(Published Version): 10.3324/haematol.2016.159772
PubMed ID: 28255022
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