Essential Thrombocythemia and Post-Essential Thrombocythemia Myelofibrosis: Updates on Diagnosis, Clinical Aspects, and Management

Omar Castaneda Puglianini; Deniz Peker; Linsheng Zhang; Nikolaos Papadantonakis

doi:10.1093/labmed/lmac074

Essential Thrombocythemia and Post-Essential Thrombocythemia Myelofibrosis: Updates on Diagnosis, Clinical Aspects, and Management

Lab Med. 2023 Jan 5;54(1):13-22. doi: 10.1093/labmed/lmac074.

Authors

Omar Castaneda Puglianini^{1

2}, Deniz Peker³, Linsheng Zhang³, Nikolaos Papadantonakis⁴

Affiliations

¹ H. Lee Moffitt Cancer Center & Research Institute, Department of Blood & Marrow Transplant & Cellular Immunotherapy, Tampa, FL, USA.
² Department of Oncologic Sciences, University of South Florida Morsani College of Medicine, Tampa, FL, USA.
³ Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA.
⁴ Winship Cancer Institute of Emory University, Department of Hematology and Medical Oncology, Atlanta, GA, USA.

PMID: 35960786
DOI: 10.1093/labmed/lmac074

Abstract

Although several decades have passed since the description of myeloproliferative neoplasms (MPN), many aspects of their pathophysiology have not been elucidated. In this review, we discuss the mutational landscape of patients with essential thrombocythemia (ET), prognostic scores and salient pathology, and clinical points. We discuss also the diagnostic challenges of differentiating ET from prefibrotic MF. We then focus on post-essential thrombocythemia myelofibrosis (post-ET MF), a rare subset of MPN that is usually studied in conjunction with post-polycythemia vera MF. The transition of ET to post-ET MF is not well studied on a molecular level, and we present available data. Patients with secondary MF could benefit from allogenic hematopoietic stem cell transplantation, and we present available data focusing on post-ET MF.

Keywords: essential thrombocythemia; hematopoietic stem cell transplantation; mutations; post-essential thrombocythemia; prognosis; secondary myelofibrosis.

Publication types

Review

MeSH terms

Hematopoietic Stem Cell Transplantation*
Humans
Myeloproliferative Disorders*
Polycythemia Vera* / diagnosis
Primary Myelofibrosis* / diagnosis
Primary Myelofibrosis* / therapy
Thrombocythemia, Essential* / diagnosis
Thrombocythemia, Essential* / therapy