Patients with Calreticulin () mutation positive essential thrombocythemia are often thought of as having a "low-risk" of thrombotic complications. This report examines a case of a patient with mutation positive essential thrombocythemia presenting with peripheral retinal ischemia and subsequent retinal neovascularization. This patient had a 2-year documented history of -mutation positive essential thrombocythemia with a maximum platelet count of over 800,000 cells/µL. Fluorescein angiogram showed significant leakage in the areas of the vascular lesions with peripheral vascular nonperfusion consistent with neovascularization. The patient was treated with photocoagulation to the areas of avascular retina. At 6-month follow-up, some regression of neovascularization was noted with no signs of progression in the retinopathy. Furthermore, essential thrombocythemia patients can present with neovascularization secondary to retinal ischemia due to microvascular thrombotic events. Identification of these changes is important for guiding medical and procedural interventions in order to preserve vision.
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http://dx.doi.org/10.1177/2050313X231194510 | DOI Listing |
Ann Hematol
January 2025
Department of Engineering for Innovation Medicine, Section of Innovation Biomedicine, Hematology Area, University of Verona, Verona, Italy.
Calreticulin (CALR) mutations are detected in around 20% of patients with primary and post-essential thrombocythemia myelofibrosis (MF). Regardless of driver mutations, patients with splenomegaly and symptoms are generally treated with JAK2-inhibitors, most commonly ruxolitinib. Recently, new therapies specifically targeting the CALR mutant clone have entered clinical investigation.
View Article and Find Full Text PDFBlood Adv
January 2025
Univ Angers, Nantes Université, CHU Angers, Inserm, CNRS, CRCI2NA, F-49000, Angers, France, ANGERS, France.
Patients with essential thrombocythemia (ET) have a chronic evolution with a risk of hematological transformation associated with a dismal outcome. Since patients with resistance or intolerance have an adverse prognosis, it is important to identify which patient will respond to first-line treatment. We therefore aim to describe the association between additional mutations and response to first-line treatment in patients with ET.
View Article and Find Full Text PDFIndian J Pathol Microbiol
September 2024
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, P. R. China.
Multiple myeloma (MM), essential thrombocythemia (ET), and colorectal adenocarcinoma (CA) are three distinct diseases. The co-occurrence of MM, ET, and CA in a single patient is exceedingly rare. Our study presents a remarkable case involving a 75-year-old patient who was simultaneously diagnosed with these three diseases.
View Article and Find Full Text PDFBiomolecules
December 2024
Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.
The efficacy of statins as anti-cancer drugs has been demonstrated in several malignancies but has been poorly investigated in hematological malignancies (HM). By studying its effect on oncogenic miRNAs, we investigated the effect of statin therapy on HM patients. The data were used to identify enriched pathways that were altered due to statin treatment.
View Article and Find Full Text PDFCureus
December 2024
Academic Affairs and Research, Orlando Regional Medical Center, Orlando, USA.
Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm (MPN) disorder characterized by persistent thrombocytosis and characterized by frequent association with cellular genetic alterations. The 10%-15% of ET that is not associated with genetic abnormalities is known as triple-negative essential thrombocythemia (TNET). A common complication observed in around 20% of ET patients is the development of acquired von Willebrand disease (AvWD).
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