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Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes

Authors :
Peter J. Campbell
Luca Malcovati
Erica Travaglino
M. Ponzoni
Federica Quaglia
Elli Papaemmanuil
Chiara Elena
Antonio Cuneo
Umberto Gianelli
Rosangela Invernizzi
M.G. Della Porta
M C Da Via
Ilaria Ambaglio
Elisa Bono
Cristiana Pascutto
Raffaella Milani
Gian Matteo Rigolin
Giorgio Alberto Croci
Emanuela Boveri
Virginia Valeria Ferretti
Attilio Orazi
E. Morra
Daniela Pietra
Mario Cazzola
Raffaella Bastia
Marta Ubezio
Della Porta, Mg
Travaglino, E
Boveri, E
Ponzoni, M
Malcovati, L
Papaemmanuil, E
Rigolin, Gm
Pascutto, C
Croci, G
Gianelli, U
Milani, R
Ambaglio, I
Elena, C
Ubezio, M
Da Via', Mc
Bono, E
Pietra, D
Quaglia, F
Bastia, R
Ferretti, V
Cuneo, A
Morra, E
Campbell, Pj
Orazi, A
Invernizzi, R
Cazzola, M
on behalf of Rete Ematologica Lombarda (REL) clinical, Network
Source :
Leukemia. 29(1)
Publication Year :
2014

Abstract

The World Health Organization classification of myelodysplastic syndromes (MDS) is based on morphological evaluation of marrow dysplasia. We performed a systematic review of cytological and histological data from 1150 patients with peripheral blood cytopenia. We analyzed the frequency and discriminant power of single morphological abnormalities. A score to define minimal morphological criteria associated to the presence of marrow dysplasia was developed. This score showed high sensitivity/specificity (>90%), acceptable reproducibility and was independently validated. The severity of granulocytic and megakaryocytic dysplasia significantly affected survival. A close association was found between ring sideroblasts and SF3B1 mutations, and between severe granulocytic dysplasia and mutation of ASXL1, RUNX1, TP53 and SRSF2 genes. In myeloid neoplasms with fibrosis, multilineage dysplasia, hypolobulated/multinucleated megakaryocytes and increased CD34+ progenitors in the absence of JAK2, MPL and CALR gene mutations were significantly associated with a myelodysplastic phenotype. In myeloid disorders with marrow hypoplasia, granulocytic and/or megakaryocytic dysplasia, increased CD34+ progenitors and chromosomal abnormalities are consistent with a diagnosis of MDS. The proposed morphological score may be useful to evaluate the presence of dysplasia in cases without a clearly objective myelodysplastic phenotype. The integration of cytological and histological parameters improves the identification of MDS cases among myeloid disorders with fibrosis and hypocellularity.

Details

ISSN :
14765551
Volume :
29
Issue :
1
Database :
OpenAIRE
Journal :
Leukemia
Accession number :
edsair.doi.dedup.....ed0397a921afa14f43e36283ceee64ef