Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jan 6:21:eAO0100.
doi: 10.31744/einstein_journal/2023AO0100. eCollection 2023.

Molecular profile of patients with myelofibrosis: a 10-year experience

Lara Faria Souza Dias  1 , Carolina Leme de Moura Pereira  1 , Newton de Freitas Centurião  1 , Jade Zezzi Martins do Nascimento  1 , Andreza Alice Feitosa Ribeiro  1 , Nelson Hamerschlak  1 , Carolina Perrone Marques  1 , Ana Carolina Vieira de Lima  1 , Luana Nóbrega da Costa  1 , Anderson Felipe da Silva  1 , Viviane de Jesus Torres Lima  1 , Mariana Nassif Kerbauy  1 , Lucila Nassif Kerbauy  1 , Leonardo Javier Arcuri  1 , Paulo Vidal Campregher  1 , Juliana Dall Agnol da Rocha  1 , Tarcila Santos Datoguia  1 , Fabio Pires de Souza Santos  1
Affiliations

Molecular profile of patients with myelofibrosis: a 10-year experience

Lara Faria Souza Dias et al. Einstein (Sao Paulo). .

Abstract

Objective: To analyze the karyotype test and myeloid panel with next-generation sequencing findings in patients with myelofibrosis, and to compare transplant characteristics in patients referred for bone marrow transplantation.

Methods: Retrospective, single-center study with patients diagnosed with myelofibrosis treated at Hospital Israelita Albert Einstein between 2010 and 2020.

Results: A total of 104 patients with myelofibrosis were examined. Patients who had not been submitted to tests in our service were excluded. The final sample comprised 69 patients. Of these 69, 56 were submitted to karyotyping and 22 to myeloid panel with next-generation sequencing. Karyotype was normal in 60% of the patients and altered in 40%. The prevalence of high-risk molecular mutations was higher in patients referred for bone marrow transplantation (100% versus 50%). The median follow-up of transplant patients was 2.4 years and the overall survival at 2 years was 80% (95%CI: 62-100%).

Conclusion: The molecular analysis enables estimating the patient's risk and thus instituting more aggressive treatment such as bone marrow transplant for patients at higher risk, being a relevant tool to guide therapy. Given the significance of molecular analysis for therapeutic decision-making in myelofibrosis, collection and disclosure of data on the prevalence of cytogenetic changes and findings of next-generation sequencing in affected patients is important.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: none.

Figures

Figure 1
Figure 1. Prevalence of mutations in next-generation sequencing panels (22 patients)
Figure 2
Figure 2. Prevalence of mutations found in the next-generation sequencing panels of transplanted and non-transplanted patients
See this image and copyright information in PMC

References

    1. Cruz NM, Gergis U, Silver RT. Myelofibrosis: best practices, controversies and 2019 update. Expert Rev Hematol. 2020;13(1):71–84. - PubMed
    1. Tefferi A. Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2021;96(1):145–162. Review. - PubMed
    1. Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA. Epidemiology of myelofibrosis, essential thrombocythemia, and polycythemia vera in the European Union. Eur J Haematol. 2014;92(4):289–297. - PubMed
    1. Mehta J, Wang H, Iqbal SU, Mesa R. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma. 2014;55(3):595–600. - PubMed
    1. Tefferi A, Lasho TL, Jimma T, Finke CM, Gangat N, Vaidya R, et al. One thousand patients with primary myelofibrosis: the mayo clinic experience. Mayo Clin Proc. 2012;87(1):25–33. - PMC - PubMed