Myelofibrosis (MF), Myeloproliferative neoplasms (MPNs), and MDS/MPN overlap syndromes have a broad range of clinical presentations and molecular abnormalities, making their diagnosis and classification complex. This paper reviews molecular aberration, epigenetic modifications, chromosomal anomalies, and their interactions with cellular and other immune mechanisms in the manifestations of these disease spectra, clinical features, classification, and treatment modalities. The advent of new-generation sequencing has broadened the understanding of the genetic factors involved. However, while great strides have been made in the pharmacological treatment of these diseases, treatment of advanced disease remains hematopoietic stem cell transplant.
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http://dx.doi.org/10.3390/ijms242417383 | DOI Listing |
Blood Adv
January 2025
Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Interferon alpha (IFNa) is approved for the therapy of patients (pts) with polycythemia vera (PV), a subtype of myeloproliferative neoplasms (MPN). Some pts achieve molecular responses (MR), but clonal factors sensitizing for MR remain elusive. We integrated colony formation and differentiation assays with single-cell RNA seq and genotyping in PV-derived cells vs.
View Article and Find Full Text PDFAm J Hematol
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
The clinical relevance of TP53 mutations (TP53) in myeloproliferative neoplasms (MPN) and their prognostic interaction with MPN subtype designation has not been systematically studied. In the current study, 114 patients with MPN harboring TP53 (VAF ≥ 2%) were evaluated for overall survival (OS), calculated from the time of TP53 detection: chronic phase myelofibrosis (MF-CP; N = 61); blast-phase (MPN-BP; N = 31) or accelerated-phase (MPN-AP; N = 16) MPN, and polycythemia vera/essential thrombocythemia (PV/ET; N = 6). Sixty-five (57%) patients harbored International Consensus Classification (ICC)-defined multihit TP53 and 56 (49%) monosomal/complex karyotype (MK/CK).
View Article and Find Full Text PDFJAMA
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
Importance: Essential thrombocythemia, a clonal myeloproliferative neoplasm with excessive platelet production, is associated with an increased risk of thrombosis and bleeding. The annual incidence rate of essential thrombocythemia in the US is 1.5/100 000 persons.
View Article and Find Full Text PDFActa Med Indones
October 2024
Department of Internal Medicine, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
This report describes a rare case of anuric acute kidney injury related to suspected urate nephropathy in a 23-year-old male with chronic phase of Chronic Myeloid Leukemia (CML). The patient presented with anuria and limb edema, with a history of imatinib-treated CML. Investigations revealed probable urate crystals causing bilateral hydronephrosis and hydroureters.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Radiology, Weill Cornell Medicine, New York, NY 10022, USA.
: Accurate and reproducible spleen volume measurements are essential for assessing treatment response and disease progression in myelofibrosis. This study evaluates techniques for measuring spleen volume on abdominal MRI. : In 20 patients with bone marrow biopsy-proven myelofibrosis, 5 observers independently measured spleen volume on 3 abdominal MRI pulse sequences, 3D-spoiled gradient echo T1, axial single-shot fast spin echo (SSFSE) T2, and coronal SSFSE T2, using ellipsoidal approximation, manual contouring, and 3D nnU-Net model-assisted contouring comparing coefficients of variation.
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