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Curr Hematol Malig Rep. 2015 Dec;10(4):380-7. doi: 10.1007/s11899-015-0285-y.

What Do Molecular Tests Add to Prognostic Stratification in MF: Is It Time to Add These to Our Clinical Practice?

Author information

1
CRIMM-Centro Ricerca e Innovazione delle Malattie Mieloproliferative croniche, Azienda Ospedaliera Universitaria Careggi, Palazzina 27/B, Cubo 3 Largo Brambilla 3, 50134, Florence, Italy. paola.guglielmelli@unifi.it.
2
Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. paola.guglielmelli@unifi.it.
3
CRIMM-Centro Ricerca e Innovazione delle Malattie Mieloproliferative croniche, Azienda Ospedaliera Universitaria Careggi, Palazzina 27/B, Cubo 3 Largo Brambilla 3, 50134, Florence, Italy. giadarotunno@gmail.com.
4
Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. giadarotunno@gmail.com.
5
CRIMM-Centro Ricerca e Innovazione delle Malattie Mieloproliferative croniche, Azienda Ospedaliera Universitaria Careggi, Palazzina 27/B, Cubo 3 Largo Brambilla 3, 50134, Florence, Italy. annalisa.pacilli@gmail.com.
6
Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. annalisa.pacilli@gmail.com.
7
CRIMM-Centro Ricerca e Innovazione delle Malattie Mieloproliferative croniche, Azienda Ospedaliera Universitaria Careggi, Palazzina 27/B, Cubo 3 Largo Brambilla 3, 50134, Florence, Italy. amvannucchi@unifi.it.
8
Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. amvannucchi@unifi.it.

Abstract

The molecular landscape of patients with myelofibrosis (MF) includes "phenotypic driver" and "subclonal" mutations. The three driver (JAK2, MPL and CALR)-mutated genes currently represent major diagnostic criteria, unlike subclonal mutations that are not specific for the disease and occur in other myeloid neoplasms. Recent data indicate that selected mutations deserve prognostic significance allowing to identify categories of patients with different survival and risk of leukemia. This review focuses on current knowledge regarding genotype-prognostic correlates in MF, however, with the understanding that this is a rapid moving field and no definite recommendations for the clinicians can be done yet.

KEYWORDS:

ASXL1 mutations; CALR mutations; Essential thrombocythemia; Myelofibrosis; Polycythemia vera; Prognosis

PMID:
26431835
DOI:
10.1007/s11899-015-0285-y
[Indexed for MEDLINE]

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