scholarly journals Characterization of Philadelphia-Negative Myeloproliferative Neoplasms in the Chilean Public Health System: Multicentric Study

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5479-5479
Author(s):  
Ximena Valladares ◽  
Christine Rojas ◽  
Camila Peña ◽  
Claudia Gajardo ◽  
Maria Elena Cabrera ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Biopsy ◽  
Blood Count ◽  
Myeloproliferative Neoplasms ◽  
Cytogenetic Study ◽  
Public Hospitals ◽  
Lower Percentage ◽  
Multicentric Study ◽  
Clinical Records

Abstract Background: Philadelphia-negative Myeloproliferative Neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are Polycythemia Vera (PV), Essential Thrombocytopenia (ET) and Myelofibrosis (MF). The diagnosis includes clinical, histological and molecular features. There are not data from Chile. The aim of this study is to determinate epidemiological, clinical, diagnostic and therapeutic characteristics of Ph-MPN in our country. Methods: Descriptive and retrospective study. We reviewed the database of the Molecular Biology Laboratory at the Hospital del Salvador, a national reference laboratory, from 2012 to 2017. All patients referred as Ph-MPN were included. We reviewed the clinical records to obtain clinical information. Results: Clinical data was obtained from 468 cases from 12 public hospitals in Chile. Median age at diagnosis was 70 years. Female to Male ratio= 1,15:1, without significant differences between Ph-MPNs. ET was the most frequently Ph-MNP found, accounting for 49,4% of all Ph-MPN, followed by PV (37%) and MF (10,4%). A 66,2% of ET was JAK2 V617F+. Bone marrow biopsy was performed in 35% of ET cases. Only 7,8% had cytogenetic study. Splenomegaly was found in 8%. Thrombosis was observed in 23,8%. The median platelet count was 842x109/L. All patients received hydrea +/- aspirin or oral anticoagulation. Of the total of PV, 86,6% was JAK2+. Bone marrow biopsy was performed in a quarter of the cases. Thrombosis frequency was 14,5%. A 29% had splenomegaly. Median hemoglobin level was 18 gr/dl. All patients were treated with aspirin +/- phlebotomy and about half of them required cytoreduction. Two patients were refractory to hydrea and used ruxolitinib as second line treatment. A 63,3% of the MF were JAK-2+. Bone marrow biopsy was performed in 59% and 20% had a cytogenetic study. Only one fifth of patients had LDH measurement at diagnosis. Splenomegaly was observed in 75,5% of cases. Thrombosis frequency was 13%. Anemia was the most frequent finding in complete blood count. The treatments were heterogeneous, including hydrea, EPO, thalidomide/prednisone, danazol and ruxolitinib. Discussion: TE was the most common Ph-MPN. The epidemiological and blood count findings were similar to the data reported in the literature. It is important to note that with the 2016 WHO classification new criteria, some of patients diagnosed with ET, now will be in PV cathegory (21 patients in our serie). The distribution of JAK2V617F+ in Ph-MPN was similar to the published data, except for PV, in which we found a lower percentage of JAK2+. Thrombosis were lower than the data reported for PV. It is worrisome that bone marrow biopsy and cytogenetic study were performed only in a low percentage of the patients. The treatment strategies were heterogeneous and not standardized among the participating centers. These findings reveal a lack in the use of the diagnostic tools for Ph-MPN. It is important to improve clinical and molecular characterization of these patients in order to guide available therapeutic alternatives in our country. Disclosures No relevant conflicts of interest to declare.

scholarly journals Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Raunak Rao ◽  
Spoorthy Kulkarni ◽  
Ian B. Wilkinson
Keyword(s):  
Bone Marrow ◽  
Renal Artery ◽  
Renal Artery Stenosis ◽  
Bone Marrow Biopsy ◽  
Blood Count ◽  
Severe Hypertension ◽  
Myeloproliferative Neoplasms ◽  
Artery Stenosis ◽  
Full Blood Count ◽  
Jak2 Mutation

Background. Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells—established complications include thrombosis and haemorrhagic events; however, there is limited evidence to suggest an association with arterial hypertension. Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. Case Presentations. Case 1: a 39-year-old male was referred to our specialist hypertension unit with high blood pressure (BP) (200/120 mmHg), erythromelalgia, and headaches. We recorded elevated serum creatinine levels (146 μM) and panmyelosis. Bone marrow biopsy confirmed JAK2-mutation-positive polycythaemia vera. Renal imaging revealed renal artery stenosis. Aspirin, long-acting nifedipine, interferon-alpha 2A, and renal artery angioplasty were employed in management. BP reached below target levels to an average of 119/88 mmHg. Renal parameters normalised gradually alongside BP. Case 2: a 45-year-old male presented with high BP (208/131 mmHg), acrocyanosis, (vasculitic) skin rashes, and nonhealing ulcers. Fundoscopy showed optic disc blurring in the left eye and full blood count revealed thrombocytosis. Bone marrow biopsy confirmed JAK2-mutation-positive essential thrombocytosis. No renal artery stenosis was found. Cardiac output was measured at 5 L/min using an inert gas rebreathing method, providing an estimated peripheral vascular resistance of 1840 dynes/s/cm5. BP was well-controlled (reaching 130/70 mmHg) with CCBs. Conclusions. These presentations highlight the utility of full blood count analysis in patients with severe hypertension. Hyperviscosity and constitutive JAK-STAT activation are amongst the proposed pathophysiology linking myeloproliferative neoplasms and hypertension. Further experimental and clinical research is necessary to identify and understand possible interactions between BP and myeloproliferative neoplasms.

scholarly journals Characterization of Tissue Findings in Bone Marrow Biopsy Specimens With Small Monoclonal B-Cell Populations

2014 ◽  
Vol 141 (5) ◽  
pp. 687-696 ◽  
Author(s):  
Beverly P. Nelson ◽  
Anmaar Abdul-Nabi ◽  
Charles Goolsby ◽  
Jane Winter ◽  
LoAnn Peterson
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Bone Marrow Biopsy ◽  
Cell Populations ◽  
Biopsy Specimens

Bone Marrow Reticulin in Patients with Immune Thrombocytopenic Purpura.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3982-3982 ◽  
Author(s):  
Ghulam Mufti ◽  
Adam Bagg ◽  
Robert Hasserjian ◽  
Barbara Bain ◽  
David Kuter ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Biopsy ◽  
Lupus Erythematosus ◽  
Immune Thrombocytopenic Purpura ◽  
Complete Blood Count ◽  
Thrombocytopenic Purpura ◽  
Fiber Network ◽  
Fine Fiber ◽  
Coarse Fibers ◽  
Clinical Records

Abstract Immune thrombocytopenic purpura (ITP) is an uncommon disorder, and research that characterizes the bone marrow stroma in ITP patients is lacking. It is known that megakaryocytes are often increased in number in ITP patients. Megakaryocytes are associated with reticulin formation in other conditions, including malignant and nonmalignant diseases, such as systemic lupus erythematosus and other immune disorders. Our objective was to determine if the reactive megakaryocyte proliferations in ITP are associated with increased reticulin deposition. We identified 40 ITP patients from clinical records in a retrospective survey of bone marrow biopsy material. Patients were required to have had a diagnosis of ITP, a bone marrow biopsy with available tissue blocks, and a complete blood count at the time of the biopsy. Paraffin-embedded sections from the bone marrow biopsy specimens were stained for reticulin using standard silver-impregnation methods. Reticulin was quantified using the Bauermeister scale (0 = no reticulin fibers demonstrable; 1 = occasional fine individual fibers and foci of a fine fiber network; 2 = fine fiber network throughout most of the section but no coarse fibers; 3 = diffuse fiber network with scattered thick coarse fibers but no mature collagen; and 4 = diffuse often coarse fiber network with areas of collagen). In addition, bone marrow cellularity and megakaryocyte numbers were evaluated. Of the 40 patients, 13 (33%) were considered to have absent (grade 0) bone marrow reticulin, 1 (2%) had grade 0–1, 20 (50%) had grade 1, 5 (13%) had grade 1–2, and 1 (2%) had grade 2. Thus, reticulin was present in the bone marrow of approximately two-thirds of the patients, with 15% having greater than grade 1. Previous research on bone marrow reticulin in 100 hematologically normal subjects found that 27% had Bauermeister reticulin grade 1 and 4% had grade 2 (Arch Pathol Lab Med1990;114:1241–3). Analysis is ongoing to further characterize the deposition of reticulin in the bone marrow of patients with ITP, the relationship of reticulin deposition to megakaryocyte numbers and location, and correlations with patient clinical findings.

scholarly journals Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Sukesh Manthri ◽  
Naresh K. Vasireddy ◽  
Sindhura Bandaru ◽  
Swati Pathak
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Bone Marrow Biopsy ◽  
Animal Studies ◽  
Myeloproliferative Neoplasms ◽  
Disease Process ◽  
Erythroid Differentiation ◽  
Elevated Bilirubin ◽  
History Of ◽  
Hereditary Condition

Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm with an ANC of 0.8 K/cmm. A slightly elevated bilirubin of 1.2 mg/dl spurred a hemolytic workup. Peripheral smear showed frequent elliptocytes, teardrop cells, schistocytes, and occasional spherocytes. Bone marrow biopsy did not show significant fibrosis to explain the elliptocytosis. Cytogenetics showed 20q deletion, and later, he was started on therapy for intermediate risk MDS. Bone marrow biopsy after completion of 6 cycles showed complete cytogenetic remission with significant improvement in elliptocytosis. Elliptocytosis in the setting of MDS has rarely been reported, and association with 20q deletion is even rarer. Animal studies have shown that haploinsufficiency ofL3MBTL1contributes to some (20q−) myeloproliferative neoplasms and myelodysplastic syndromes by affecting erythroid differentiation. Our case report raises interesting questions: Does MDS with rarely reported elliptocytosis indicate a disease process that is different from the usual 20q deletion? Is haploinsufficiency ofL3MBTL1responsible for this manifestation?

scholarly journals Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1367-1367
Author(s):  
Yang Wan ◽  
Xiaofan Zhu ◽  
Xiaojuan Chen ◽  
Wenbin An ◽  
Peihong Zhang ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Platelet Count ◽  
Bone Marrow Biopsy ◽  
Peripheral Blood ◽  
Clinical Characteristics ◽  
Blood Count ◽  
Complete Blood Count ◽  
Conflicts Of Interest ◽  
Bone Marrow Fibrosis ◽  
Marrow Fibrosis

Abstract X-linked thrombocytopenia with thalass emia (XLTT)(OMIM 314050)was first described by Thompson in 1977(Thompson et al. J Blood 1977 50(2):303-16). This rare inherent disorder was caused by a nucleotide change G>A at position 647, which leads to an amino acid substitution of arginine to glutamine (R216Q) in the gene of GATA-1 on the band p11-12 ohuman X chromosome(Raskind et al. Blood 2000, 95(7):2262-8 ;Yu et al.J Blood 2002,100(6): 2040-2045). GATA-1, belonging to the GATA family of transcription factors plays a crucial role in the development of several hematopoietic cell lines ( Ferreira et al. J Mol Cell Biol 2005,25(4): 1215-1227) . The missense mutation(R216Q) in XLTT affects GATA-1 binding to palindromic DNA sites (Yu et al.J Blood 2002,100(6): 2040-2045). The clinical characteristics of XLTT are mild thrombocytopenia, splenomegaly, reticulocytosis, hemolytic anemia and unbalanced hemoglobin (Hb) chain synthesis resembling ¦Â-thalassemia (Raskind et al. Blood 2000, 95(7):2262-8 ; Balduini et al. J Thromb Haemost 2004, Jan;91(1):129-40). About 7 families of XLTT were reported before (Millikan et al.J Semin Thromb Hemost 2011,37(6): 682-689; Danielsson et al. J Lakartidningen 2012 ,109(34-35): 1474-1477).Bone marrow fibrosis is described only in tow Swedish families ( Danielsson et al. J Lakartidningen 2012 ,109(34-35): 1474-1477).But there is limited data about the treament and prognosis of the diesase. Here we describe the full clinical characteristics of a boy of XLTT who was treated by splenectomy. The patient was first admitted at the age of 1year and 8 months in 2011.The chief complain was skin petechia and pale for more than one month. The boy had lower weight but no visible malformation. Feeding difficult and lag of language development were also complained.His Liver was 2.3cm below the right ribs and spleen was 3.2cm below the left. Peripheral blood count showed hemoglobin 8 g/dL, MCV76.7fl, MCH21.8 pg,MCHC284 g/L and reticulocyte count 0.1764¡Á1012/L. Peripheral blood smear demonstrated marked anisopoikilocytosis, polychromasia and nucleated RBCs.Platelet count was 64¡Á109/L with normal morphology.Wight blood cell was normal in number and morphology.elevated to 0.226(normal range 0-0.025) while HBA2 and hemoglobin electrophoresis was normal. Bone marrow biopsy and aspirate smear revealed a hypercellular marrow with dysplasia of erythrocyte series and megakaryoblasts (Figure 1 A). Polynuclear erythroblast ,micromegakaryocytes and hypolobated megakaryocytes could be easily seen (Figure 1 B). Fibrosis proliferation was obvious (Figure 1 A). Genetic analysis discovered a mutantion of GATA-1(R216Q)and excluded mutations of hemoglobin gnens and JAK-2. Patient was treated with dexamethasone and thalidomide which got little effect. The baseline hemoglobin was 6-8 g/dL.Platelet count ranged from 30 to 70¡Á109/L. Splenectomy was done at the age of 5years and 4 months because of constantly RBC transfusion and splenomegaly. Fibrosis proliferation and extramedullary hematopoiesis in spleen were proved by biopsy (Figure 1 C,D).The boy's complete blood count was recovered 4 months after splenectomy. Hemoglobin rose to11.6 g/dL and platelet count was 337¡Á109/L. HBF was still high at 0.226. Multifocal fibrosis proliferation still existed in bone marrow biopsy but with no myelodysplasia (Figure 1 E,F). Hepatomegaly didn't progress. He has good quality of life,and normal growth and intelligence development. Splenectomy can be a therapeutic strategy of X-linked thrombocytopenia with thalassemia. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

scholarly journals Bone Marrow Hypocellularity in Patients with End-Stage Kidney Disease

Healthcare ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1452
Author(s):  
Chia-Chen Hsieh ◽  
Ming-Jen Chan ◽  
Yi-Jiun Su ◽  
Jen-Fen Fu ◽  
I-Kuan Wang ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Kidney Disease ◽  
Confidence Interval ◽  
Bone Marrow Biopsy ◽  
Odds Ratio ◽  
Lower Percentage ◽  
Multivariate Logistic Regression Model ◽  
Chang Gung Memorial Hospital ◽  
End Stage Kidney Disease ◽  
End Stage

Background. Anemia and pancytopenia are not uncommon in patients with chronic kidney disease (CKD). Nevertheless, there is insufficient literature analyzing bone marrow pathology in patients with CKD or end-stage kidney disease (ESKD) receiving dialysis. Methods. This observational cohort study included 22 patients with ESKD and 23 patients with CKD that received bone marrow biopsy and aspiration at Chang Gung Memorial Hospital. Demographic, hematological, and biochemical data were collected at the time of bone marrow study for analysis. Results. Bone marrow aspiration demonstrated that patients with ESKD had a lower percentage of blasts than patients with CKD (0.52 ± 0.84 versus 1.06 ± 0.78 %, p = 0.033). Bone marrow biopsy revealed that the overall incidence of hypocellular bone marrow was 55.6%. Furthermore, patients with ESKD had higher proportion of hypocellular bone marrow than patients with CKD (72.7% versus 39.1%, p = 0.023). In a multivariate logistic regression model, it was revealed that ESKD status (odds ratio 9.43, 95% confidence interval 1.66–53.63, p = 0.011) and megakaryocyte count within bone marrow (odds ratio 0.48, 95% confidence interval 0.29–0.79, p = 0.004) were significant predictors for bone marrow hypocellularity. Conclusion. Bone marrow hypocellularity is common in patients with kidney dysfunction. Hypocellular marrow occurs more frequently in patients with ESKD than patients with CKD.

Sign in / Sign up

Export Citation Format

Share Document