Relevance of Weight Loss, Splenomegaly, and Hypocholesterolemia in the Treatment of Myeloproliferative Neoplasms— Implications for a JAK2 Inhibitor Era

2011 ◽  
Vol 07 (01) ◽  
pp. 61 ◽  
Author(s):  
Robyn M Scherber ◽  
Ruben A Mesa ◽  
◽  
Keyword(s):  
Weight Loss ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Treatment Strategies ◽  
Primary Myelofibrosis ◽  
Hematologic Malignancies ◽  
Prognostic Features ◽  
Stem Cell Proliferation ◽  
Jak2 Inhibitor

Myeloproliferative neoplasms (MPNs) encompass a diverse yet homogenous classification of hematologic malignancies including primary myelofibrosis (MF), essential thrombocythemia (ET), and polycythemia vera (PV). Although clinically distinct, these three entities share similar clinical and prognostic features and are characterized by clonal stem cell proliferation with recurrent chromosomal abnormalities. MPNs can be accompanied by symptomatic worsening, particularly weight loss and splenomegaly. However, of these symptoms only splenomegaly is targeted by conventional therapy. With the key discovery of the JAK2V617F mutation, there has been renewed focus on effective treatment strategies aimed at counteracting the debilitating side effects accompanying this disease. In this brief article, we describe the clinical features, course, treatment approaches, and monitoring utility of progressive splenomegaly and cachexia in MPNs.

scholarly journals Next-Generation Sequencing Mutational Landscape and Clinical Features of Chinese Adults with Myeloproliferative Neoplasms

2021 ◽  
Author(s):  
Shuna Luo ◽  
Zanzan Wang ◽  
Xiaofei Xu ◽  
Lan Zhang ◽  
Shengjie Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Comprehensive Evaluation ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Next Generation ◽  
Chinese Adults ◽  
Leukocyte Counts ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: Myeloproliferative neoplasms (MPNs) include three classical subtypes: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Since prefibrotic primary myelofibrosis (pre-PMF) was recognized as a separate entity in the 2016 revised classification of MPN, it has been a subject of debate among experts due to its indefinite diagnosis. However, pre-PMF usually has a distinct outcome compared with either ET or overt PMF. In this study, we examined the clinical, haematologic, genetic, and prognostic differences among pre-PMF, ET, and overt PMF.Methods: We retrospectively reviewed the clinical parameters, haematologic information, and genetic mutations of patients who were diagnosed with pre-PMF, ET, and overt PMF according to the WHO 2016 criteria using next-generation sequencing (NGS).Results: Pre-PMF patients exhibited higher leukocyte counts, higher LDH values, a higher frequency of splenomegaly, and a higher incidence of hypertension than ET patients. On the other hand, pre-PMF patients had higher platelet counts and haemoglobin levels than overt PMF patients. Molecular analysis revealed that the frequency of EP300 mutations was significantly increased in pre-PMF patients compared with ET and overt PMF patients. In terms of outcome, male sex, along with symptoms including MPN-10, anaemia, thrombocytopenia, and KMT2A and CUX1 mutations, indicated a poor prognosis for PMF patients.Conclusion: The results of this study indicated that comprehensive evaluation of BM features, clinical phenotypes, haematologic parameters, and molecular profiles is needed for the accurate diagnosis and treatment of ET, pre-PMF, and overt PMF patients.

Haematopathology of classic myeloproliferative neoplasms

2020 ◽  
pp. 45-62
Author(s):  
Hans Michael Kvasnicka ◽  
Jürgen Thiele
Keyword(s):  
Continuous Improvement ◽  
Who Classification ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
World Health ◽  
Polycythaemia Vera ◽  
The World ◽  
Health Organization ◽  
Diagnostic Importance

The classification of the World Health Organization (WHO) continues to advocate the diagnostic importance of bone marrow (BM) morphology in the diagnostic workup of myeloproliferative neoplasms (MPN). In this regard, distinctive histological BM patterns characterize specific subtypes of MPN and are the key to a meaningful clinical and molecular-defined risk stratification of patients. In this regard, the morphological denominator includes a characteristic megakaryocytic proliferation along with variable changes in the granulopoiesis and erythropoiesis. Importantly, diagnosis of MPN requires absence of relevant dysgranulopoiesis or dyserythropoiesis. In terms of clinical practice, the concept of precursor stages provides the possibility of an early intervention by appropriate therapeutic regimens that might prevent fatal complications like thrombosis and haemorrhage, especially in early stages of polycythaemia vera or in primary myelofibrosis. However, the WHO classification is not aimed to capture all biological true cases of MPN or guarantee a complete diagnostic specificity and thus might be in need of continuous improvement following clinical experience.

Weight Loss, Splenomegaly, and Hypocholesterolemia in Myeloproliferative Neoplasms: Patterns and Relevance from the Pre JAK2 Inhibitor Era.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3918-3918 ◽  
Author(s):  
Ruben A. Mesa ◽  
Susan Schwager ◽  
Jocelin Huang ◽  
Animesh D. Pardanani ◽  
Kebede Hussein ◽  
...  
Keyword(s):  
Weight Loss ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasms ◽  
Prognostic Score ◽  
Univariate Analysis ◽  
The Body ◽  
Costal Margin ◽  
Additional Time ◽  
Jak2 Inhibitor ◽  
Jak2 Inhibitors

Abstract Abstract 3918 Poster Board III-854 BACK GROUND We have previously demonstrated that the myeloproliferative neoplasms (MPNs) of primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocythemia (ET) can lead to weight loss, splenomegaly and constitutional symptoms (Cancer 2007;109:68–76). Additionally we have demonstrated that hypocholesterolemia in MPN patients is associated with decreased survival (Blood 2007;110:a2548). Given that current JAK2 inhibitor trials are demonstrating the ability to reverse MPN associated splenomegaly (Haematologica 2009;94(Suppl 2)439 a1088) and cachexia (Blood 2008;112(11):a1760) we sought to determine the baseline natural history for these variables in patients treated prior to the JAK2 inhibitor era. METHODS We analyzed the Mayo MPN database for patients (not treated with JAK2 inhibitors) with information on disease prognosis, presentation, therapies, height and weight at diagnosis, and outcomes. Additionally, when available, we analyzed additional weights during the clinical course, the body mass index (BMI- (weight/(height*height)), spleen size, and peripheral blood studies including lipids. Results: Patients 783 patients with MPNs (followed for a median of 51 months (range 1-871 months); 60% having expired) were identified for the analysis (PV=158, ET=255, PMF=370) with 541 (69%) having a weight at the time of diagnosis, the remainder had a weight obtained a median of 7.8 months after diagnosis. Additionally, 508 patients (65%) had a weight value available from 1–3 additional time points during the course of their disease. Corresponding measurements of splenomegaly, or absence thereof, were noted in 766 cases (98%). Lipid panels (obtained within 18 months of diagnosis) were available in 264 patients. Results by MPN disease type are listed in the Table. Impact on prognosis Univariate analysis of variables discussed which negatively impacted survival included the subtype of MPN (not surprisingly worse for PMF p<0.001), weight loss of greater than 10% during the course of follow-up (P<0.001), or development of splenomegaly of >10 cm below the left costal margin (p=0.004) whereas hypocholesterolemia was significant only for the subset of PMF patients (P=0.03). The IWG-MRT International Prognostic Score (IPSS - Cervantes et. al. Blood 2009) was the only variable prognostically relevant in multivariate analysis (P<0.001). Conclusions Progressive splenomegaly, weight loss, and hypocholesterolemia are common across all MPNs but are most prognostically detrimental in PMF. Ongoing and future trials of JAK2 inhibitors will answer whether reversal of these latter hypercatabolic and proliferative manifestations of disease will improve outcomes for MPN patients. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Aktualitások a primer myelofibrosis ellátásában

2016 ◽  
Vol 157 (39) ◽  
pp. 1547-1556
Author(s):  
Zsófia Simon ◽  
Imelda Marton ◽  
Zita Borbényi ◽  
Árpád Illés
Keyword(s):  
Treatment Approach ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Spleen Volume ◽  
Novel Therapy ◽  
Jak2 Inhibitor ◽  
Chronic Myeloproliferative Neoplasms ◽  
Associated Symptoms ◽  
Modifying Effect ◽  
Disease Modifying

Primary myelofibrosis is one of the Philadelphia negative chronic myeloproliferative neoplasms. It is a rare disease featured by cytopenias and hepatosplenomegaly. Although the etiology of the disease is still unknown, our knowledge about its pathology and prognosis has been improving in the last few years. Furthermore, the JAK2 inhibitor ruxolitinib has become available in Hungary since 2015. Beside its high efficacy in spleen volume and in reduction of myelofibrosis-associated symptoms, this novel therapy also exerts a disease-modifying effect and, therefore, ruxolitinib may improve the life expectancy too. Treatment approach of myelofibrosis has been changed these years, which gives a reason for this summary. Orv. Hetil., 2016, 157(39), 1547–1556.

scholarly journals Advanced forms of MPNs are accompanied by chromosomal abnormalities that lead to dysregulation of TP53

2018 ◽  
Vol 2 (24) ◽  
pp. 3581-3589 ◽  
Author(s):  
Bridget K. Marcellino ◽  
Ronald Hoffman ◽  
Joseph Tripodi ◽  
Min Lu ◽  
Heidi Kosiorek ◽  
...  
Keyword(s):  
Disease Progression ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Primary Myelofibrosis ◽  
Chromosome 17 ◽  
Transcript Levels ◽  
History Of ◽  
Tumor Protein P53

Abstract The Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and the prefibrotic form of primary myelofibrosis (PMF), frequently progress to more overt forms of MF and a type of acute leukemia termed MPN-accelerated phase/blast phase (MPN-AP/BP). Recent evidence indicates that dysregulation of the tumor suppressor tumor protein p53 (TP53) commonly occurs in the MPNs. The proteins MDM2 and MDM4 alter the cellular levels of TP53. We investigated in 1,294 patients whether abnormalities involving chromosomes 1 and 12, which harbor the genes for MDM4 and MDM2, respectively, and chromosome 17, where the gene for TP53 is located, are associated with MPN disease progression. Gain of 1q occurred not only in individuals with MPN-BP but also in patients with PV and ET, who, with further follow-up, eventually evolve to either MF and/or MPN-BP. These gains of 1q were most prevalent in patients with a history of PV and those who possessed the JAK2V617F driver mutation. The gains of 1q were accompanied by increased transcript levels of MDM4. In contrast, 12q chromosomal abnormalities were exclusively detected in patients who presented with MF or MPN-BP, but were not accompanied by further increases in MDM2/MDM4 transcript levels. Furthermore, all patients with a loss of 17p13, which leads to a deletion of TP53, had either MF or MPN-AP/BP. These findings suggest that gain of 1q, as well as deletions of 17p, are associated with perturbations of the TP53 pathway, which contribute to MPN disease progression.

Risk of Mortality and Leukemic Transformation in Primary Myelofibrosis before and after Ruxolitinib Approval

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 28-28
Author(s):  
John William Thomas ◽  
Mithun Vinod Shah ◽  
Pankit Vachhani ◽  
Omer Jamy ◽  
Ronald S. Go ◽  
...  
Keyword(s):  
Board Of Directors ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Hematologic Malignancies ◽  
The United States ◽  
Symptom Improvement ◽  
Advisory Committees ◽  
Study Results ◽  
Significant Difference ◽  
The Impact

Background: Primary myelofibrosis (PMF) has the worst prognosis of the classical BCR-ABL1 negative myeloproliferative neoplasms, with a median overall survival of six years. Factors affecting survival include age, symptom burden, cytopenias, mutation profile, and development of second malignancies including transformation to acute myeloid leukemia (AML). Ruxolitinib, a selective JAK1 and JAK2 inhibitor, was granted approval by the United States (US) Food and Drug Administration for treatment of intermediate and high-risk PMF in November 2011 based on reduction in spleen volume and demonstration of symptom improvement. The impact of ruxolitinib on PMF survival is unknown. In this study, we aimed to evaluate whether there has been a change in survival and patterns of second primary malignancies (SPMs) including AML transformation among PMF population in US after ruxolitinib approval. Methods: Using the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER)-18 survival and Multiple Primary Standardized Incidence Ratio (MP-SIR) registries, we conducted a retrospective study with patients diagnosed with PMF between the years of 2007 and 2016. We divided these patients into two five-year cohorts, pre-ruxolitinib approval (2007-2011) and post-ruxolitinib approval (2012-2016), and compared relative survival rates (RSRs) and standardized incidence ratios (SIRs) of SPMs between the cohorts. SIRs were calculated as the ratio of observed to expected malignancy cases over the specified time periods. Median follow-up duration was five years for each cohort. RSRs and SIRs were compared between cohorts using two-proportion Z-tests. Results: We included 2164 patients diagnosed with PMF between 2007 and 2016 with data available in the SEER-18 survival and MP-SIR registries. Of these, 1051 (49%) patients were included in the pre-ruxolitinib cohort and 1113 (51%) patients were included in the post-ruxolitinib cohort. There was no significant difference in the four-year RSRs between the pre-ruxolitinib and post-ruxolitinib cohorts (55% vs. 56%, p = 0.719). A higher proportion of SPMs occurred in the post-ruxolitinib cohort when compared with the pre-ruxolitinib cohort (60% vs. 40%, p &lt; 0.001). Hematologic malignancies comprised a majority of all SPMs (AML 39% and non-Hodgkin lymphoma 16%). A higher incidence of AML transformation occurred in the post-ruxolitinib cohort when compared with the pre-ruxolitinib cohort (SIR 121.48 vs. 72.22, p = 0.037). Non-hematologic malignancies were also more common in the post-ruxolitinib cohort when compared with the pre-ruxolitinib cohort (SIR 1.09 vs. 0.94, p &lt; 0.001). The most common non-hematologic malignancies were cancers of the respiratory tract, urinary tract, and prostate gland, though their SIRs were not significant in either cohort. Conclusions: Our study results suggest that despite improvements in prognostication and the approval of ruxolitinib, the prognosis of PMF remains poor in the US. These results may be due to low uptake of ruxolitinib in practice or a lack of benefit from the drug itself. Additionally, for reasons that are unclear, SPM incidence has increased in the five years following the approval of this drug. Further studies should be conducted to determine the cause of these findings. Figure Disclosures Shah: Dren Bio: Consultancy. Vachhani:astellas: Speakers Bureau; agios, blueprint medicines, jazz pharmaceuticals, daiichi sankyo: Membership on an entity's Board of Directors or advisory committees; incyte: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; abbvie: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.

Leukaemic Transformation of Philadelphia-chromosome-negative Myeloproliferative Neoplasms — A Review of the Molecular Background

2011 ◽  
Vol 07 (01) ◽  
pp. 59
Author(s):  
Nils H Thoennissen ◽  
H Phillip Koeffler ◽  
◽  
Keyword(s):  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Chronic Phase ◽  
Myeloid Cell ◽  
Primary Myelofibrosis ◽  
Haematopoietic Stem Cell ◽  
Polycythaemia Vera ◽  
Causative Role ◽  
Blast Phase

Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), including polycythaemia vera (PV), primary myelofibrosis (PMF) and essential thrombocythaemia (ET), are clonal haematopoietic stem cell disorders characterised by proliferation of one or more myeloid cell lineages. They are closely associated with theJAK2V617F mutation, whose detection is used as a clonal marker in the differential diagnosis of MPN. Despite recent improvements in the molecular diagnosis and therapeutic regimen of these chronic disorders, haematological evolution to blast phase remains a major cause of long-term mortality. The mechanism of MPN transformation is still a matter of some controversy because of insufficient insights into the underlying molecular pathogenesis. The purpose of this article is to summarise the increasing data concerning the mechanism of leukaemic evolution of patients diagnosed with chronic MPN. Chromosomal abnormalities and genes that have been shown to play a potential causative role in chronic-phase acceleration are discussed, as are aberrations that may serve as prognostic markers in the blast phase of MPN.

scholarly journals Diagnosis and classification of hematologic malignancies on the basis of genetics

Blood ◽  
2017 ◽  
Vol 130 (4) ◽  
pp. 410-423 ◽  
Author(s):  
Justin Taylor ◽  
Wenbin Xiao ◽  
Omar Abdel-Wahab
Keyword(s):  
B Cell ◽  
Clinical Management ◽  
Myeloid Leukemia ◽  
Myeloproliferative Neoplasms ◽  
Lymphoblastic Leukemia ◽  
Hematologic Malignancies ◽  
Genetic Alterations ◽  
B Cell Lymphomas ◽  
Acute Leukemias

Abstract Genomic analysis has greatly influenced the diagnosis and clinical management of patients affected by diverse forms of hematologic malignancies. Here, we review how genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas, and classical Hodgkin lymphoma. These include new subtypes of acute myeloid leukemia defined by mutations in RUNX1 or BCR-ABL1 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblastic leukemia. Among patients with MDS, detection of mutations in SF3B1 define a subgroup of patients with the ring sideroblast form of MDS and a favorable prognosis. For patients with MPNs, detection of the BCR-ABL1 fusion delineates chronic myeloid leukemia from classic BCR-ABL1− MPNs, which are largely defined by mutations in JAK2, CALR, or MPL. In the B-cell lymphomas, detection of characteristic rearrangements involving MYC in Burkitt lymphoma, BCL2 in follicular lymphoma, and MYC/BCL2/BCL6 in high-grade B-cell lymphomas are essential for diagnosis. In T-cell lymphomas, anaplastic large-cell lymphoma is defined by mutually exclusive rearrangements of ALK, DUSP22/IRF4, and TP63. Genetic alterations affecting TP53 and the mutational status of the immunoglobulin heavy-chain variable region are important in clinical management of chronic lymphocytic leukemia. Additionally, detection of BRAFV600E mutations is helpful in the diagnosis of classical hairy cell leukemia and a number of histiocytic neoplasms. Numerous additional examples provided here demonstrate how clinical evaluation of genomic alterations have refined classification of myeloid neoplasms and major forms of lymphomas arising from B, T, or natural killer cells.

scholarly journals The Classification of Myeloproliferative Neoplasms: Rationale, Historical Background and Future Perspectives with Focus on Unclassifiable Cases

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5666
Author(s):  
Marco Pizzi ◽  
Giorgio Alberto Croci ◽  
Marco Ruggeri ◽  
Silvia Tabano ◽  
Angelo Paolo Dei Tos ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Historical Background ◽  
World Health ◽  
Hematopoietic Stem ◽  
Chronic Eosinophilic Leukemia ◽  
History Of ◽  
Health Organization

Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal hematopoietic stem cell disorders, characterized by increased proliferation of one or more myeloid lineages in the bone marrow. The classification and diagnostic criteria of MPNs have undergone relevant changes over the years, reflecting the increased awareness on these conditions and a better understanding of their biological and clinical-pathological features. The current World Health Organization (WHO) Classification acknowledges four main sub-groups of MPNs: (i) Chronic Myeloid Leukemia; (ii) classical Philadelphia-negative MPNs (Polycythemia Vera; Essential Thrombocythemia; Primary Myelofibrosis); (iii) non-classical Philadelphia-negative MPNs (Chronic Neutrophilic Leukemia; Chronic Eosinophilic Leukemia); and (iv) MPNs, unclassifiable (MPN-U). The latter are currently defined as MPNs with clinical-pathological findings not fulfilling the diagnostic criteria for any other entity. The MPN-U spectrum traditionally encompasses early phase MPNs, terminal (i.e., advanced fibrotic) MPNs, and cases associated with inflammatory or neoplastic disorders that obscure the clinical-histological picture. Several lines of evidence and clinical practice suggest the existence of additional myeloid neoplasms that may expand the spectrum of MPN-U. To gain insight into such disorders, this review addresses the history of MPN classification, the evolution of their diagnostic criteria and the complex clinical-pathological and biological features of MPN-U.

Deletion 5q in WHO-Defined Myeloproliferative Neoplasms: A Clinicopathological Description.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2552-2552
Author(s):  
Rafael Santana-Davila ◽  
Ayalew Tefferi ◽  
Shernan G. Holtan ◽  
Rhett P. Ketterling ◽  
Ryan A. Knudson ◽  
...  
Keyword(s):  
Overall Survival ◽  
Platelet Count ◽  
Systemic Mastocytosis ◽  
Myeloproliferative Neoplasms ◽  
Hypereosinophilic Syndrome ◽  
Primary Myelofibrosis ◽  
Hemoglobin Level ◽  
World Health ◽  
Prognostic Features ◽  
Chronic Eosinophilic Leukemia

Abstract Background: Deletion 5q is a lenalidomide-sensitive cytogenetic abnormality seen usually in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In the current study, we looked into the occurrence and clinicopathologic correlates of del(5q) in myeloproliferative neoplasms (MPNs) defined according to the World Health Organization (WHO) criteria. Methods: Patients with del(5q)-positive MPN were identified through database query involving over 2000 patients with myeloproliferative neoplasms (MPD) including no less than 500 patients with primary myelofibrosis (PMF), 600 patients with essential thrombocytosis (ET), 500 patients with polycythemia vera (PV), and the remaining comprised of patients with molecularly-undefined chronic eosinophilic leukemia, hypereosinophilic syndrome, systemic mastocytosis (SM), chronic neutrophilic leukemia, and “MPN, unclassifiable”. Results: A total of 23 patients with del(5q) were identified (12 at time of initial diagnosis), suggesting an overall prevalence rate of 1%. A central pathological review was conducted to confirm the diagnosis in each instance. Specific diagnoses included PMF (n=14; estimated prevalence of 3%), MPN, unclassifiable (n=4), PV (n=2), ET (n=1), post ET-myelofibrosis (n=1) and SM (n=1). Del(5q) was a sole abnormality in 5 patients, accompanied by one other abnormality in 6 patients, and part of a complex karyotype in 12 patients. The most common breakpoint was q13q33 (n=10) followed by q15q33 (n=6). Based on sample size adequacy, we focused on del(5q)-positive PMF patients and compared their bone marrow histological and clinical features with their del(5q)-negative counterparts seen at the Mayo Clinic during the same period of time (n=311). There was no difference in gender or age distributions. Histopathological review did not show the typical tight clusters of megakaryocytes seen in classic PMF. The megakaryocytes were not the predominate feature of the biopsy, in general were less lobulated and smaller in size, and had a higher grade of fibrosis (med = 3+) than classic PMF. Furthermore, del(5q)-positive PMF patients presented with significantly lower hemoglobin level (p=0.0009) and platelet count (p=0.0003). The percentage of patients presenting with a hemoglobin level of &lt; 10 g/dL or a platelet count of &lt; 100 × 109/L were 70% and 92% in del(5q)-positive patients as opposed to 43% and 18% in del(5q)-negative patients. However, the presence of del(5q) did not significantly affect either overall survival (Figure) or leukemic transformation in PMF (14% vs 9%). Conclusions: Del(5q) is generally rare in MPNs but might occur in as much as 3% of patients with PMF. The presence of del(5q) does not appear to affect overall survival in PMF despite its clustering with adverse prognostic features for the disease including anemia and thrombocytopenia. Finally, megakaryocyte morphology and distribution in del(5q)-associated PMF are characteristically different from classic PMF. Figure Figure

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