Publications by authors named "J O Mascarenhas"

Despite the study of BCR::ABL1-positive and -negative myeloproliferative neoplasms (MPNs) providing seminal insights into cancer biology, tumor evolution and precision oncology over the past half century, significant challenges remain. MPNs are clonal hematopoietic stem cell-derived neoplasms with heterogenous clinical phenotypes and a clonal architecture which impacts the often-complex underlying genetics and microenvironment. The major driving molecular abnormalities have been well characterized, but debate on their role as disease-initiating molecular lesions continues.

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Background: Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of somatic mutations in myeloid and lymphoid malignancy genes in the blood cells of individuals without a hematologic malignancy. Inflammation is hypothesized to be a key mediator in the progression of CHIP to hematologic malignancy and patients with CHIP have a high prevalence of inflammatory diseases. This study aimed to identify the prevalence and characteristics of CHIP in patients with inflammatory bowel disease (IBD).

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The oral Janus kinase (JAK) 1/JAK2 inhibitor ruxolitinib was approved by the US Food and Drug Administration in 2014 for treatment of patients with polycythemia vera (PV) who have an inadequate response to or intolerance of hydroxyurea (HU). PV is a chronic myeloproliferative neoplasm defined by primary absolute erythrocytosis, bone marrow hypercellularity, and JAK mutations such as JAK2V617F. Patients with PV experience burdensome symptoms and are at risk of thromboembolic events, in particular those with resistance to or intolerance of initial treatments such as HU.

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Article Synopsis
  • - Polycythemia vera (PV) is a rare blood disorder affecting around 65,000 Americans, characterized by an increased mass of red blood cells, leading to a higher risk of blood clots, with symptoms such as itching and enlarged spleen.
  • - Diagnosis often involves identifying elevated hemoglobin levels and the presence of a specific JAK2 gene variant, with many patients also experiencing increased platelet and white blood cell counts; survival rates range from 14 to 28 years following diagnosis.
  • - Treatment typically includes therapeutic phlebotomy and low-dose aspirin for thrombosis prevention, with higher-risk patients possibly receiving additional therapies like hydroxyurea or Ruxolitinib for symptom relief; a small percentage may
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