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

M. G. Della Porta, E. Travaglino, E. Boveri, M. Ponzoni, L. Malcovati, E. Papaemmanuil, G. M. Rigolin, C. Pascutto, G. Croci, U. Gianelli, R. Milani, I. Ambaglio, C. Elena, M. Ubezio, M. C. Da Via', E. Bono, D. Pietra, F. Quaglia, R. Bastia, V. FerrettiA. Cuneo, E. Morra, P. J. Campbell, A. Orazi, R. Invernizzi, M. Cazzola

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)66-75
Number of pages10
JournalLeukemia
Volume29
Issue number1
DOIs
Publication statusPublished - Jan 10 2015

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Developmental Bone Disease
Myelodysplastic Syndromes
Bone Marrow
Mutation
Fibrosis
Phenotype
Megakaryocytes
p53 Genes
Chromosome Aberrations
Sensitivity and Specificity
Survival
Genes
Neoplasms

ASJC Scopus subject areas

  • Hematology
  • Cancer Research
  • Anesthesiology and Pain Medicine

Cite this

Minimal morphological criteria for defining bone marrow dysplasia : A basis for clinical implementation of WHO classification of myelodysplastic syndromes. / Della Porta, M. G.; Travaglino, E.; Boveri, E.; Ponzoni, M.; Malcovati, L.; Papaemmanuil, E.; Rigolin, G. M.; Pascutto, C.; Croci, G.; Gianelli, U.; Milani, R.; Ambaglio, I.; Elena, C.; Ubezio, M.; Da Via', M. C.; Bono, E.; Pietra, D.; Quaglia, F.; Bastia, R.; Ferretti, V.; Cuneo, A.; Morra, E.; Campbell, P. J.; Orazi, A.; Invernizzi, R.; Cazzola, M.

In: Leukemia, Vol. 29, No. 1, 10.01.2015, p. 66-75.

Research output: Contribution to journalArticle

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 2015, 'Minimal morphological criteria for defining bone marrow dysplasia: A basis for clinical implementation of WHO classification of myelodysplastic syndromes', Leukemia, vol. 29, no. 1, pp. 66-75. https://doi.org/10.1038/leu.2014.161
Della Porta, M. G. ; Travaglino, E. ; Boveri, E. ; Ponzoni, M. ; Malcovati, L. ; Papaemmanuil, E. ; Rigolin, G. M. ; Pascutto, C. ; Croci, G. ; Gianelli, U. ; Milani, R. ; Ambaglio, I. ; Elena, C. ; Ubezio, M. ; Da Via', M. C. ; Bono, E. ; Pietra, D. ; Quaglia, F. ; Bastia, R. ; Ferretti, V. ; Cuneo, A. ; Morra, E. ; Campbell, P. J. ; Orazi, A. ; Invernizzi, R. ; Cazzola, M. / Minimal morphological criteria for defining bone marrow dysplasia : A basis for clinical implementation of WHO classification of myelodysplastic syndromes. In: Leukemia. 2015 ; Vol. 29, No. 1. pp. 66-75.
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AU - Della Porta, M. G.

AU - Travaglino, E.

AU - Boveri, E.

AU - Ponzoni, M.

AU - Malcovati, L.

AU - Papaemmanuil, E.

AU - Rigolin, G. M.

AU - Pascutto, C.

AU - Croci, G.

AU - Gianelli, U.

AU - Milani, R.

AU - Ambaglio, I.

AU - Elena, C.

AU - Ubezio, M.

AU - Da Via', M. C.

AU - Bono, E.

AU - Pietra, D.

AU - Quaglia, F.

AU - Bastia, R.

AU - Ferretti, V.

AU - Cuneo, A.

AU - Morra, E.

AU - Campbell, P. J.

AU - Orazi, A.

AU - Invernizzi, R.

AU - Cazzola, M.

PY - 2015/1/10

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N2 - 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.

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