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

Paola Guglielmelli; Giada Rotunno; Annalisa Pacilli; Alessandro Maria Vannucchi

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?

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

Authors

Paola Guglielmelli^{1

2}, Giada Rotunno^{3

4}, Annalisa Pacilli^{5

6}, Alessandro Maria Vannucchi^{7

8}

Affiliations

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. [email protected].
² Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. [email protected].
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. [email protected].
⁴ Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. [email protected].
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. [email protected].
⁶ Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. [email protected].
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. [email protected].
⁸ Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, 50134, Florence, Italy. [email protected].

PMID: 26431835
DOI: 10.1007/s11899-015-0285-y

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Humans
Janus Kinase 2 / genetics*
Janus Kinase 2 / metabolism
Mutation
Polycythemia Vera / diagnosis*
Primary Myelofibrosis / diagnosis*
Prognosis
Thrombocythemia, Essential / diagnosis*

Substances

JAK2 protein, human
Janus Kinase 2