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Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis

Elisa Rumi, Daniela Pietra, Cristiana Pascutto, Paola Guglielmelli, Alejandra Martínez-Trillos, Ilaria Casetti, Dolors Colomer, Lisa Pieri, Marta Pratcorona, Giada Rotunno, Emanuela Sant’Antonio, Marta Bellini, Chiara Cavalloni, Carmela Mannarelli, Chiara Milanesi, Emanuela Boveri, Virginia Ferretti, Cesare Astori, Vittorio Rosti, Francisco Cervantes, Giovanni Barosi, Alessandro M. Vannucchi and Mario Cazzola on behalf of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators

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  • RE: JAK2, CALR, MPL mutations: triple negative primary- or secondary- myelofibrosis?
    • Rajesh Kumar, Physicist Indian Institute of Technology Indore
    • Other Contributors:
      • Hem C. Jha, Scientist
      • Shilpa Raut, Medical Officer

    An excellent article recently published by Rumi et al (1) gives a wonderful picture about the role of JAK2, CALR, MPL mutations on prognosis and management of patients with (primary) Myelofibrosis (PMF). Based on the study done on approximately 700 patients with PMF, it has been reported that 91.4% subjects had at least one of these mutations (say group-1). Rest 8.6 % subjects were showing none of these mutations and were categorized as triple negative subjects (say group-2). It was observed that patients in group-2 have lesser survival and are at higher risk of leukemic conversion. Disease progression was also rapid for group-2 patients.
    However the authors have defined the diagnosis based on 2008 WHO definition. We insist on a careful identification of patients before assigning the ‘primary’ nature of MF, especially with triple-negative (group-2) patients. Our call on this is based on various MF cases which were misdiagnosed as ‘primary’. A very recent article shows the case of MF due to Renal osteodystrophy (2) as a secondary cause. Other secondary causes for MF include Tuberculosis (3) and Leishmaniasis(4-5) and there might be others. We feel that the study presented by Rumi et al should clearly mention whether the secondary origin of MF were ruled out for patients in group-2, and if so, how many were found to have infection associated MF. The remaining (from group-2) should be kept out of the statistics presented. We strongly feel so, because Leishmaniasis, and...

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    Conflict of Interest:
    None declared.