TY - JOUR
T1 - Diagnostic algorithm for lower-risk myelodysplastic syndromes
AU - Mufti, Ghulam J.
AU - McLornan, Donal P.
AU - van de Loosdrecht, Arjan A.
AU - Germing, Ulrich
AU - Hasserjian, Robert P.
PY - 2018
Y1 - 2018
N2 - Rapid advances over the past decade have uncovered the heterogeneous genomic and immunologic landscape of myelodysplastic syndromes (MDS). This has led to notable improvements in the accuracy and timing of diagnosis and prognostication of MDS, as well as the identification of possible novel targets for therapeutic intervention. For the practicing clinician, however, this increase in genomic, epigenomic, and immunologic knowledge needs consideration in a “real-world” context to aid diagnostic specificity. Although the 2016 revision to the World Health Organization classification for MDS is comprehensive and timely, certain limitations still exist for day-to-day clinical practice. In this review, we describe an up-to-date diagnostic approach to patients with suspected lower-risk MDS, including hypoplastic MDS, and demonstrate the requirement for an “integrated” diagnostic approach. Moreover, in the era of rapid access to massive parallel sequencing platforms for mutational screening, we suggest which patients should undergo such analyses, when such screening should be performed, and how those data should be interpreted. This is particularly relevant given the recent findings describing age-related clonal hematopoiesis.
AB - Rapid advances over the past decade have uncovered the heterogeneous genomic and immunologic landscape of myelodysplastic syndromes (MDS). This has led to notable improvements in the accuracy and timing of diagnosis and prognostication of MDS, as well as the identification of possible novel targets for therapeutic intervention. For the practicing clinician, however, this increase in genomic, epigenomic, and immunologic knowledge needs consideration in a “real-world” context to aid diagnostic specificity. Although the 2016 revision to the World Health Organization classification for MDS is comprehensive and timely, certain limitations still exist for day-to-day clinical practice. In this review, we describe an up-to-date diagnostic approach to patients with suspected lower-risk MDS, including hypoplastic MDS, and demonstrate the requirement for an “integrated” diagnostic approach. Moreover, in the era of rapid access to massive parallel sequencing platforms for mutational screening, we suggest which patients should undergo such analyses, when such screening should be performed, and how those data should be interpreted. This is particularly relevant given the recent findings describing age-related clonal hematopoiesis.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85049114077&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29946191
U2 - https://doi.org/10.1038/s41375-018-0173-2
DO - https://doi.org/10.1038/s41375-018-0173-2
M3 - Review article
C2 - 29946191
SN - 0887-6924
VL - 32
SP - 1679
EP - 1696
JO - Leukemia
JF - Leukemia
IS - 8
ER -