Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis

Cheng, Chi‐Keung; Lai, Jennifer Wing-Yan; Yung, Yuk‐Lin; Chan, Henry C. B.; Wong, Raymond; Chan, Natalie Pui Ha; Cheung, Joyce S.; Luo, Xi; Pitts, H. A.; Ng, Margaret H.L.

doi:10.1002/jha2.361

Cited by 2 publications

(1 citation statement)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…5). The frequency of ASXL1 mutations gradually increased from Pre-PMF to PMF-AP/BP (10.1-51.1%), consistent with two other studies for Asian PMF patients [21,23] . Moreover, ASXL1 mutations were signi cantly associated with both Overt-PMF and PMF-AP/BP, while U2AF1 mutations as well as RUNX1 and NRAS mutations were only associated with Overt-PMF or PMF-AP/BP, respectively.…”

Section: Discussionsupporting

confidence: 90%

Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression

Yan

Zhang

et al. 2023

Preprint

View full text Add to dashboard Cite

Except for driver mutations (JAK2, MPL, CALR), primary myelofibrosis (PMF) patients have much more non-driver mutations than polycythemia vera (PV) and essential thrombocythemia (ET) patients. The relationship between disease progression (prefibrotic (Pre) to overtfibrotic (Overt) to accelerate phase/blast phase (AP/BP)) and non-driver mutations is still not very clear. To uncover the effect of these non-driver mutations in the progression of PMF, we retrospectively analyzed 275 samples in different stages (69 Pre-PMF, 161 Overt-PMF and 45 PMF-AP/BP) from 258 consecutive patients. Univariate analysis showed that ASXL1 mutations were closely related to PMF progression with increasing frequency in this process. Multivariate analysis furtherly confirmed that ASXL1 mutations were enriched both in Overt-PMF and in PMF-AP/BP, while U2AF1 mutations were only enriched in Overt-PMF and RUNX1 and NRAS mutations were only enriched in PMF-AP/BP. The data of serial samples from Overt-PMF patients who developed to AP/BP showed that ASXL1 mutations more frequently co-occurred with newly acquired RAS pathway mutations, while RUNX1 mutations were usually freshly acquired with independence on ASXL1 mutations during AP/BP transformation. Collectively, ASXL1 mutations may play a crucial role in the whole course of PMF progression and should be targeted as potential intervention point.

show abstract

Section: Discussionsupporting

confidence: 90%

Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression

Yan

Zhang

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

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

Puglianini

Peker

Zhang

et al. 2022

Laboratory Medicine

View full text Add to dashboard Cite

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.

show abstract

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis

Cited by 2 publications

References 18 publications

Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression

Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression

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

Contact Info

Product

Resources

About