China
Africa
Explore chapters and articles related to this topic
Case 44
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
Chronic idiopathic myelofibrosis. The plasma lactate dehydrogenase (LDH) level is increased. Approximately one-third of patients have a mutation in the Janus kinase 2 (JAK2) gene and a higher proportion have a mutation in the calreticulin (CALR) gene. Other genes that may be mutated include Ten-Eleven-Translocation2 (TET2) and myeloproliferative leukemia (MPL). Bone marrow cytogenetic will typically show abnormalities – commonest are deletions of 20q and 13q, trisomy 8 and abnormalities of chromosomes 1, 5, 7 and 9.
Different Types of Leukemias, Lymphomas, and Myelomas
Published in Tariq I Mughal, John M Goldman, Sabena T Mughal, Understanding Leukemias, Lymphomas, and Myelomas, 2017
Tariq I Mughal, John M Goldman, Sabena T Mughal
The term myeloproliferative disorders describes a heterogenous group of malignant conditions arising from the hematopoietic stem cells. They are characterized by the absence of a Ph chromosome (hence sometimes referred to as Ph-negative MPD since CML used to be classified as a MPD and now, of course, recognized as a separate entity). The three principal disorders, PV (Fig. 4.21A and B), primary myelofibrosis (PMF) (Fig. 4.22A and B), and ET (Fig. 4.23A and B) are now known to share some clinical and molecular features and are now classified as myeloproliferative neoplasms in the 2009 WHO classification (Table 4.6A-C). The presence of a single mutation of the tyrosine kinase Janus-associated kinase 2 (known as JAK2) in almost all patients with PV and about a significant proportion with PMF and ET provides a molecular marker for the diagnosis. It is now being targeted as a potential therapy target and several studies are currently ongoing. Typically these disorders affect patients older than age 60 years and tend to have an indolent course sometimes associated with thrombotic and bleeding problems and a definite risk of transformation to AML. Patients with PMF also tend to have very large spleen which can result in symptoms.
Mesenteric vein thrombosis
Published in Peter Gloviczki, Michael C. Dalsing, Bo Eklöf, Fedor Lurie, Thomas W. Wakefield, Monika L. Gloviczki, Handbook of Venous and Lymphatic Disorders, 2017
Waldemar E. Wysokinski, Robert D. McBane
Myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are found in about a third of MVT cases and therefore are important considerations in the search for an underlying mechanism.19 These disorders represent a stem cell-derived clonal myeloproliferation. The most common clinical manifestation of this malignancy and the cause of death is venous or arterial thrombosis.20 The JAK2V617F sequence variation with gain of function that leads to independent proliferation is found in 90% of cases of polycythemia vera and up to 50% of cases of essential thrombocythemia. Screening for this mutation is therefore appropriate in the initial evaluation of patients who are suspected of having these disorders, including patients with MVT.21–23 In fact, detection of the JAK2 sequence variation has replaced bone marrow examination as the first test to screen for myeloproliferative neoplasms.22,24
Analysis 33 patients of non-DS-AMKL with or without acquired trisomy 21 from multiple centers and compared to 118 AML patients
Published in Hematology, 2023
Wenzhi Zhang, Jianxin Dun, Hui Li, Jingzhen Liu, Hongbo Chen, Hui Yu, Jiawei Xu, Fen Zhou, Yining Qiu, Jinjin Hao, Qun Hu, Xiaoyan Wu
The time interval from onset to diagnosis of AMKL was significantly longer than that of other types of AML patients (P < 0.05). To further investigate this, the medical histories of patients with a long-term interval from onset to diagnosis were reviewed. Patients with a diagnosis interval of more than three months always presented with thrombocytopenia or pancytopenia at initial, moreover, they were commonly misdiagnosed with immune thrombocytopenia or aplastic anemia, which result in inappropriate treatment and prolonged delay in correct diagnosis. Ultimately, the diagnosis was confirmed through repeated bone marrow puncture, with one patient undergoing five bone punctures before receiving a confirmed diagnosis. Of the 33 AMKL patients, 10 presented with bone puncture dry aspiration, six of whom underwent bone marrow biopsy. Four out of the six patients who underwent biopsy presented with myelofibrosis (MF). Although not statistically significant, the time interval from onset to diagnosis was longer in these patients with MF (mean 93.5 ± 58.5 days) than other AMKL patients. A prolonged time interval from onset to diagnosis and the presence of MF may lead to delayed treatment and its associated poor outcomes [12].
Cytopenic myelofibrosis: prevalence, relevance, and treatment
Published in Expert Opinion on Pharmacotherapy, 2023
Pankit Vachhani, Srdan Verstovsek, Prithviraj Bose
Patients with myelofibrosis have a substantial reduction in quality of life and work productivity [11,12]. Fatigue, reported by up to 80% of responders, constitutes one of the most commonly reported of all symptoms in myelofibrosis. The burden of fatigue is in turn related to, but not exclusively, anemia [13]. Unsurprisingly, patients with cancer and anemia report a reduced sense of well-being and disruptions in their exercise tolerance, ability to work, social interactions, and the pursuit and enjoyment of leisure activities [14]. Fortunately, data from the phase 1/2 trial of ruxolitinib in MF showed no significant effect of either the development of or the degree of anemia and the symptomatic improvements recorded using the Myelofibrosis Symptom Assessment Form [15]. Further, in myelofibrosis patients from a pick-the-winner phase 2 trial of pomalidomide and prednisone, anemia response actually correlated with a sustained improved quality of life as measured by all FACT-An domains [10].
Frequency of JAK2V617F, MPL and CALR driver mutations and associated clinical characteristics in a Norwegian patient cohort with myeloproliferative neoplasms
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Susanne Lilleskare, Marta Vorland, Anh Khoi Vo, Aasne K. Aarsand, Håkon Reikvam
Variants in CALR are frameshift mutations, and over 50 different types have been identified. The most common are type 1 and type 2, and together they account for 85% of CALR mutations in myeloproliferative neoplasms [2]. Studies have indicated that there is a certain phenotypical difference also between types of CALR mutation. It has been suggested that type 1 mutations are associated with myelofibrosis and occurs more frequently in males. Type 2 mutations are associated with essential thrombocytosis and a higher level of platelets. In addition, type 2 mutations occur more frequently in younger patients [2,3,16]. Due to the small sample size, we have not examined differences between types of CALR-mutations in our study. In a small subset of patients, no driver mutations were identified. Additional mutations in genes such as ASXL1, EZH2, DNMT3A, IDH1, IDH2 and TET2, have also been published in myeloproliferative diseases. However, these had not been analyzed in our study cohort, and could therefore not be assessed.