scholarly journals A Philadelphia-negatív krónikus myeloproliferativ kórképek epidemiológiai jellemzői Szabolcs-Szatmár-Bereg megyében. 33 év adatainak elemzése

2017 ◽  
Vol 158 (15) ◽  
pp. 572-578
Author(s):  
János Jakó ◽  
László Szerafin
Keyword(s):  
Hematological Malignancies ◽  
Primary Myelofibrosis ◽  
Myeloproliferative Disorders ◽  
Hematologic Malignancies ◽  
Female Dominance ◽  
Polycythaemia Vera ◽  
Essential Thrombocythaemia ◽  
Chronic Myeloproliferative Disorders ◽  
The Mean ◽  
Epidemiologic Features

Abstract: Introduction: In their previous work, the authors reported findings from 30 years on the incidence of hematological malignancies in Szabolcs-Szatmár-Bereg county, Hungary. Until now there are no other studies on this topic available in Hungary. Aim: Detailed analysis of epidemiologic features of patients with Philadelphia-negative chronic myeloproliferative disorders was carried out. Method: During a 33-year period (between January 1, 1983 and December 31, 2015) 4523 adult patients with hematologic malignancies were recorded in the leukaemia/lymphoma registry of Szabolcs-Szatmár-Bereg county. Among them, 255 patients with polycytaemia vera, 102 with primary myelofibrosis, and 331 with essential thrombocytaemia were registered. Results: The incidence of polycythaemia vera and essential thrombocythaemia in Szabolcs-Szatmár-Bereg county showed an increasing tendency, with an overall incidence rate of 1.35 and 1.75/100 000 inhabitants/year, respectively; while the incidence of primary myelofibrosis decreased in the course of years (0.54/100 000 inhabitants/year). In cases of polycythaemia vera and primary myelofibrosis the male:female ratio was found to be equal, however essential thrombocythaemia showed a female dominance. The mean age of patients with polycythaemia vera was 65 (21–95) years, similar to essential thrombocythaemia with 65 (19–85) years, and to primary myelofibrosis with 65.5 (33–84) years. There were only two villages found in this county where the occurrence of patients with Philadelphia-negative chronic myeloproliferative disorders per one thousand inhabitants was significantly higher, than the average (1.22). In every familial cases of these, the manifestation of the disease in the second and the third generations became earlier than in the first genetration. The perceived average degree of the anteposition (anticipation) was found to be 22 years. Conclusion: The epidemiologic features of Philadelphia-negative chronic myeloproliferative disorders in Szabolcs-Szatmár-Bereg county are essentially similar to data published in the literature. Orv. Hetil., 2017, 158(15), 572–578.

scholarly journals Antepozíció testvérekben észlelt malignus hematológiai betegségekben. A 34 éves Szabolcs-Szatmár-Bereg megyei leukaemia/lymphoma regiszter adataiból levonható következtetések

2017 ◽  
Vol 158 (33) ◽  
pp. 1283-1287
Author(s):  
János Jakó ◽  
László Szerafin
Keyword(s):  
Detailed Analysis ◽  
Hematological Malignancies ◽  
Hematologic Malignancies ◽  
Polycythaemia Vera ◽  
Disease Associations ◽  
Three Sisters ◽  
Epidemiologic Features

Abstract: Introduction: In their previous works, the authors reported findings from familial hematologic malignancies in Szabolcs-Szatmár-Bereg county, Hungary. So far there are no other studies on this topic available in Hungary. Aim: Detailed analysis of epidemiologic features of hematologic malignancies of siblings. Method: During a 34-year period (between January 1, 1983 and December 31, 2016), 86 families with hematologic malignancies were recorded in Szabolcs-Szatmár-Bereg county. Among them, 19 cases of the affected siblings were registered. Results: In one family there were three sisters with polycythaemia vera, hence the number of analysed disease associations was 21. In all of the 21 cases, the younger sibling’s disease developed earlier. The average anteposition was 10.8 (1–33) years (median: 10 years). Conclusion: The anticipation was earlier observed in multigeneration hematological malignancies between direct and collateral descendants. On the basis of the above data, anteposition of the disease was observed in younger siblings. Orv Hetil. 2017; 158(33): 1283–1287.

scholarly journals A myeloma epidemiológiai jellemzői Szabolcs-Szatmár-Bereg megyében. 33 év adatainak elemzése

2016 ◽  
Vol 157 (34) ◽  
pp. 1357-1360
Author(s):  
János Jakó ◽  
László Szerafin
Keyword(s):  
Multiple Myeloma ◽  
Soft Tissue ◽  
Detailed Analysis ◽  
Hematological Malignancies ◽  
Hematologic Malignancies ◽  
Female Dominance ◽  
Cell Leukaemia ◽  
Monoclonal Immunoglobulin ◽  
Plasma Cell Leukaemia ◽  
Epidemiologic Features

Introduction: In their previous work, the authors reported findings from 30 years on the incidence of hematological malignancies in Szabolcs-Szatmár-Bereg county, Hungary. Until now there are no other studies on this topic available in Hungary. Aim: Detailed analysis of epidemiologic features of patients with myeloma. Method: During a 33-year period (between January 1, 1983 and December 31, 2015) 4521 adult patients with hematologic malignancies were recorded in the leukaemia/lymphoma registry of Szabolcs-Szatmár-Bereg county. Among them 440 patients with myeloma (9.73%) were registered (397 multiple myeloma, 38 solitary, bone/soft tissue plasmocytoma, 5 primary plasma cell leukaemia). Results: The incidence of myeloma in Szabolcs-Szatmár-Bereg county showed an increasing tendency, with an overall incidence rate of 2.33/100 000 inhabitants/year. The male:female ratio was 45.9%:54.1%, the average age of patients was 65.1 (28–90) years, and 59.4% of the patients with multiple myeloma had IgG-type monoclonal immunoglobulin. There was no town or village in this county where the occurrence of patients with myeloma in one thousand inhabitants was significantly higher, than the average (0.78). Conclusions: The epidemiologic features of myeloma in Szabolcs-Szatmár-Bereg county – except a moderate female dominance – is essentially similar to data published in the literature. Orv. Hetil., 2016, 157(34), 1357–1360.

Philadelphia-negative Chronic Myeloproliferative Disorders in Children

2010 ◽  
Vol 00 (04) ◽  
pp. 51
Author(s):  
Maria Luigia Randi ◽  
Maria Caterina Putti ◽  
◽  
Keyword(s):  
Biological Markers ◽  
Gene Mutations ◽  
Drug Effects ◽  
Primary Myelofibrosis ◽  
Myeloproliferative Disorders ◽  
New Drugs ◽  
Polycythaemia Vera ◽  
Chronic Myeloproliferative Disorders ◽  
Common Causes ◽  
Thrombotic Complications

Philadelphia-negative chronic myeloproliferative disorders (Ph-MPDs) are clonal haematopoietic disorders typically found in medianadvanced age. The recently discovered acquiredJAK2V617F mutation and other somatic mutations inJAK2,TPO,MPLandEPO-Rin the myeloid cells of these patients are now considered specific biological markers, and their presence is considered a main diagnostic criterion of these diseases. Ph-MPD are extremely rare in children and need to be distinguished from other more common causes of thrombocytosis and erythrocytosis. Essential thrombocythaemia (ET) is the less rare Ph-MPD, while polycythaemia vera (PV) and primary myelofibrosis (PMF) are occasional findings in paediatrics. In this group of patients the incidence of haemorrhagic and thrombotic complications, as well as transformation into MF and acute leukaemia, seem to be rarer than in adults. Moreover, the biological markers found in adults with Ph-MPDs are not as common in paediatric cases, and familial forms are relatively frequent. Therefore, the tests used in adults are not exhaustive for most children. Because gene mutations are detectable in a minority of paediatric cases, new markers are needed to better understand such cases. Therapy is devoted to reducing symptoms, not improving collateral drug effects. New drugs targeting the JAK2 molecule are under development and open new possibilities in the treatment of these rare diseases.

The safety of dental extractions in patients with hematologic malignancies.

1989 ◽  
Vol 7 (6) ◽  
pp. 798-802 ◽  
Author(s):  
S K Williford ◽  
P L Salisbury ◽  
J E Peacock ◽  
J M Cruz ◽  
B L Powell ◽  
...  
Keyword(s):  
Wound Healing ◽  
Myeloproliferative Disorders ◽  
Hematologic Malignancies ◽  
Maximum Temperature ◽  
Average Maximum ◽  
Average Maximum Temperature ◽  
Sources Of Infection ◽  
The Mean ◽  
Risk For Bleeding ◽  
Dental Infections

Dental disorders have been recognized as major sources of infection in patients with hematologic malignancies (HM). Management of severe dental infections usually includes dental extractions (DE), but the safety of extractions in patients with HM who are at risk for bleeding, sepsis, and poor wound healing has not been well established. In conjunction with an aggressive program of dental care, 142 DE were performed in 26 patients with acute leukemia, myelodysplastic syndromes, and myeloproliferative disorders. Granulocytopenia (less than 1,000 granulocytes/microL) was present during or within ten days following surgery in 14 patients. In these 14 patients (101 DE), the mean granulocyte count was less than 450/microL, with a median duration of granulocytopenia following surgery of 32 days (range, four to 169 days). Thrombocytopenia (less than 100,000 platelets/microL) occurred during or within two days following surgery in 13 patients (80 DE), with a mean platelet count of 63,500/microL. Transfusions were given for platelet counts less than 50,000/microL. All DE were performed without significant complications. Bleeding was minor to moderate and easily controlled with local measures; no patient required transfusion due to hemorrhage. Average maximum temperature 24 hours after DE was 37.7 degrees C. No episodes of bacteremia were documented within ten days of DE. Minor delay in wound healing was observed in two patients. We conclude that DE can be safely performed in patients with HM in combination with aggressive supportive care.

Palifermin in Patients with Hematological Malignancies Undergoing Autologous Hematopoietic Stem Cell Transplantation (HSCT): The Italian Early Access Program (EAP).

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 5236-5236
Author(s):  
Laura M. Cavagna ◽  
Gaetano Bonifacio ◽  
Emanuele Angelucci ◽  
Alessandro Fanni ◽  
Giuseppe Milone ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Stem Cell ◽  
Adverse Events ◽  
Interim Analysis ◽  
Hematological Malignancies ◽  
Hematologic Malignancies ◽  
World Health ◽  
High Dose ◽  
Hematopoietic Stem ◽  
The Mean

Abstract Oral mucositis (OM) is an acute, severe and often dose-limiting toxicity in patients undergoing HSCT. OM significantly affects functional status and patients’ quality of life; however no effective therapy was available for this condition. Palifermin (Kepivance®) is a human keratinocyte growth factor (KGF) produced by recombinant DNA technology. KGF binds to its receptor on epithelial cells, stimulating their proliferation, differentiation, and migration. Palifermin has been shown to decrease the incidence and duration of severe OM in patients with hematologic malignancies receiving myelotoxic therapy and HSCT. In Italy, compassionate use protocols are considered EAP and are regulated by a decree issued by the Ministry of Health (MoH) on May 8th 2003. The objective of the Decree is to ensure that patients have access to experimental therapies outside clinical trials, when no valid therapeutic alternative exists. Approval is granted in case of serious or rare diseases or life-threatening conditions. After Ethical Committee (EC) approval and notification to MoH, the drug can be supplied in response to an unsolicited request from a physician. The drug is then administered under the physician’s direct responsibility. During EAP, the Decree allows collection of the patient’s data similar to an observational trial. From July 2005 through July 2006 a total of 26 centers have requested the drug and obtained approval from local EC. Each center collected the following data on a case report form: vital signs, disease status and treatment, palifermin administration, mucositis, analgesic use, parenteral supplementation, common laboratory tests and duration of hospitalization. A total of 175 adults patients with hematological malignancies treated with autologous SCT participated in the EAP. In an interim analysis, data from 41 patients (24 men; 17 women; median age 52.44) were analyzed. The most common diagnoses were multiple myeloma (MM) (n=16) and non-Hodgkin lymphoma (NHL) (n=15). Conditioning therapy and supportive care were administered according to standard institutional practice (high-dose melphalan for MM and the BEAM regimen for NHL). Palifermin 60 mcg/kg/day was given intravenously on 3 consecutive days before the conditioning regimen and on 3 days starting on the day of stem cell infusion. OM was evaluated daily for 28 days after transplantation or until severe OM resolution using the five-grade World Health Organization (WHO) oral-toxicity scale. Safety was assessed on the basis of the incidence of adverse events. The incidence of severe OM (Grade 3–4) was 17% and the mean duration was 2.2 ± 3.5 days (CI, 1.1–3.3) in patients with OM Grade 0–4 while in patients with OM G3-4 the mean duration was 6.9 ± 2.5 (CI, 4.5–9.2). Adverse events (mainly rash, pruritus, erythema, mouth and tongue disorders, and taste alteration) were mild to moderate in severity and were transient. The frequency of adverse events was consistent with those observed in clinical trials. In conclusion, the Italian EAP experience with palifermin suggested that results were consistent with those of pivotal studies in patients with hematologic malignancies undergoing HSCT. From the results of the interim analysis of the Italian EAP, the use of palifermin in this setting appears to be feasible and was widely accepted by participating physicians and patients.

Screening for Psychosocial Distress in Patients with Hematological Malignancies and Identifying Specific Factors That Cause Distress throughout Stage of Disease

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2086-2086 ◽  
Author(s):  
Craig E. Cole ◽  
Alyson R Haugen ◽  
Michelle A Mathiason ◽  
Vicki L McHugh
Keyword(s):  
Hematological Malignancies ◽  
Hematological Malignancy ◽  
Hematologic Malignancies ◽  
Psychosocial Distress ◽  
Disease State ◽  
Anxiety And Depression ◽  
History Of ◽  
Specific Factors ◽  
The Mean ◽  
Anxiety Depression

Abstract Abstract 2086 Background: Studies incorporating measurement tools for emotional distress into clinical care for hematology patients are rare. We previously reported that distress levels of >5 on the National Comprehensive Cancer Network (NCCN) distress thermometer (DT) were significantly more likely to occur in patients who were seen within the first 30 day of presentation, women, younger patients, those with previous depression/anxiety, and those who are unmarried. However, the diagnosis of malignant or non-malignant hematologic disorder was not associated with DT levels >5. Since this report, the DT indicator of distress was adjusted to ≥4. AIM: To assess and measure psychosocial distress in adult patients with hematological malignancies pertaining to Hodgkin's Lymphoma (HL), Non-Hodgkin's Lymphoma (NHL), Multiple Myeloma (MM), and Chronic Lymphocytic Leukemia (CLL) at a multidisciplinary community-based hematology/oncology clinic, and identify the specific factors of these subjects associated with the most distress. Methods: Consecutive adult subjects with HL, NHL, MM, and CLL (n=302) seen at the Gundersen Lutheran Center for Cancer and Blood Disorders were approached over a period from September 2010 to March 2011. Study subjects consented to a one-time assessment of two prospective surveys that included the DT (scale of 0–10) and the Hospital Anxiety and Depression Scale (HADS), which indicates the specific factors that cause distress in daily life. Subjects were excluded for incomplete surveys. The Charlson Comorbidity Index (CCI) was utilized to assess comorbid conditions at the time of consent and is predictive of mortality within one year. Additional medical information including history of anxiety/depression, as well as disease related information and disease state (diagnosed, observation, remission, treatment) were collected by chart review. A score ≥4 was used an indicator of distress for the DT, and a score of ≥8 was used as a positive indicator of anxiety/depression for the HADS. All prospective surveys were completed prior to the subject's clinic appointment. Results: A total of 190 subjects (63%) consented and completed both the DT and HADS (mean age 65.8±13.4 yrs; 62% men). Subjects were grouped into hematological malignancy cohorts, with 31% having NHL, 25% CLL, 11% HL and MM 20%. The mean DT score was 2.8±2.5 and the mean CCI was 4.5±1.4, with 34% of subjects rating distress ≥4 and 31% of subjects having a positive HADS result. No differences between hematological malignancy cohorts were found for subjects with a history of anxiety/depression (p=0.079), DT ≥4 (p=0.468) or positive HADS results (p=0.079); however, the percentage of subjects with a positive HADS result trended higher in HL subjects (52%). When stratified by DT score (≥4 vs. 0–3), no differences were found for hematological malignancy cohorts, disease state, sex, age, marital status or CCI. However, a positive HADS result was associated with a DT score ≥4 (p=0.001), thereby validating DT as a screening tool for anxiety/depression. Women were more likely to have a history of depression (p=0.008), but a history of anxiety/depression or medication usage was strongly associated with a DT score ≥4 (p=0.001) for the entire population. Conclusion: In subjects with common hematologic malignancies, a history of anxiety/depression was a very strong indicator of distress. Degree of comorbid illness, disease status and type of hematologic malignancy were not associated with distress. Based on these results, patients with hematologic malignancies who have a DT score ≥4 and/or a positive HADS result should be considered for aggressive management of prior anxiety and depression to ensure treatment that encompasses patient-centered care. Disclosures: No relevant conflicts of interest to declare.

JAK2V617F Mutation in Leukaemic Transformation of Philadelphia Negative Chronic Myeloproliferative Disorders.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3605-3605
Author(s):  
Davide Rossi ◽  
Clara Deambrogi ◽  
Daniela Capello ◽  
Michaela Cerri ◽  
Monia Lunghi ◽  
...  
Keyword(s):  
Sequential Analysis ◽  
Chronic Phase ◽  
Myeloproliferative Disorders ◽  
Jak2v617f Mutation ◽  
Polycythaemia Vera ◽  
P53 Mutations ◽  
Chronic Myeloproliferative Disorders ◽  
Specific Pcr ◽  
Mutation Burden ◽  
History Of

Abstract The natural history of Philadelphia negative chronic myeloproliferative disorders (Ph- CMPD) is characterized by a chronic phase that, in a fraction of cases, may progress to acute leukaemia. The JAK2V617F mutation occurs in 70–90% of polycythaemia vera (PV) and 30–50% essential thrombocythaemia (ET) and idiopathic myelofibrosis (IMF). The aim of this study was to verify the prevalence of JAK2V617F mutation in acute myeloid leukaemia (AML) evolved from Ph- CMPD. Bone marrow samples were derived from 5 PV, 10 ET and 5 IMF patients at the time of transformation to AML. In four cases, the corresponding chronic phase was also available. For comparison, 111 Ph- CMPD in chronic phase were also investigated, including 57 ET, 35 PV and 19 IMF. For each patient, BM samples were simultaneously investigated for JAK2V617F mutation by cDNA sequencing and mutation specific PCR. The JAK2V617F mutation was identified in 5/20 (25%) AML secondary to Ph- CMPD. In all mutated cases, the normal JAK2 sequence could be detected in addition to the mutated allele. JAK2V617F mutation occurred in 3/5 (60%) AML transformed from PV, 2/5 (40%) AML transformed from IMF, and 0/11 AML transformed from ET. In four AML transformed from ET, the corresponding chronic phase sample was also available. In three of these patients, both the ET and the AML phase tested negative for JAK2V617F mutation. One patient carried JAK2V617F mutation in the ET phase, but not in the AML phase. This same patient was investigated for karyotype and p53 mutations in both ET and AML phases. During the ET phase, the karyotype was 45,XY,-4,-20 and p53 mutations were absent. In the AML phase, the karyotype was 47,XY,+mar and p53 analysis revealed a Ser→Thr mutation at codon 303. JAK2V617F mutation was detected in 67/111 (60%) chronic phase Ph- CMPD, including 25/57 (44%) ET, 29/35 (83%) PV and 13/19 (68%) IMF. Several observations suggest that JAK2V617F mutation may not play a substantial role in leukaemic transformation of PV, IMF and ET. First, the prevalence of JAK2V617F mutation in AML transformation from PV and IMF is similar to that observed in chronic phase PV and IMF. Second, AML cases with JAK2V617F mutation carry a normal JAK2 allele in addition to the mutated allele, indicating that the JAK2V617F mutation burden does not increase during leukaemogenesis. Third, in our series, all cases of AML post ET are devoid of JAK2V617F mutation, a prevalence that is markedly different from that expected on the basis of JAK2V617F mutation analysis in chronic phase ET. Fourth, sequential analysis of the ET case that carried JAK2V617F mutation at ET diagnosis but not at the time of AML transformation, suggests that a JAK2V617F negative subclone may emerge during AML transformation of JAK2V617F positive ET. The possibility that AML in such case derives from a subclone that is genetically different from the predominant chronic phase population is also supported by the appearance during the AML phase of a less complex karyotype, characterized by the disappearance of chromosome 4 and 20 deletions, that were present in the corresponding ET chronic phase.

JAK2V617F Mutation In Hematologic Malignancies In Childhood and Myeloproliferative Disorders In Adulthood

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4897-4897
Author(s):  
Akin Yigin ◽  
Bulent Ali Antmen ◽  
Hatice Korkmaz Guvenmez ◽  
Mustafa Yilmaz ◽  
Ilgen Sasmaz ◽  
...  
Keyword(s):  
Conflicts Of Interest ◽  
Gene Mutations ◽  
Primary Myelofibrosis ◽  
Myeloproliferative Disorders ◽  
Hematologic Malignancies ◽  
The Other ◽  
Jak2v617f Mutation ◽  
Acute Leukemias ◽  
University Departments ◽  
Almost All

Abstract Introduction Mutations in JAK2 have been implicated in polycythemia vera (PV), essential thrombocythemia (ES), primary myelofibrosis (PMF) as wll as other myeloproliferative disorders. Aim In this study we aimed to investigate the frequency of JAK2V617F mutation on 216 patients with hematologic malignancies in childhood and 176 patients with myeloproliferative disorders in adulthood. Materials and method Patient group consist of 164 ALL and 52 AML patients in childhood and 79 PV, 51 ES, 22 chronic myeloid leukemia patients (CML) and 24 PMF patients in adulthood. These patients followed by Cukurova University, Departments of Pediatric and Adult Hematology, are included in this study. Blood samples were collected in these patients group and DNA was isolated using high pure template preparation kit (Roche) and stored -80oC. Gene mutations were studied using TMB (TıbMolBiol) LightMix Kit JAK2V617F genomic and analyzed by Light Cycler 2.0 Roche Diagnostic, GmBh, Germany in both groups. Findings JAK2V617F mutation was found 1 of 164 ALL patients (0,6%), 0 of 52 AML patients (0%) in childhood. Nevertheless, JAK2V617F mutation was also found 71 of 79 PV patients (89,8%), 22 of 51 ET patients (43,1%), 1 of 22 CML patients (4,5%) and 15 of 24 PMF patients (62,5%) in adulthood. Result As a result we found high frequency of JAK2V617F mutation in PV patients than the other myeloproliferative disorders. JAK2V617F mutation was significantly high in myeloproliferative disorders in adulthood comparing with childhood acute leukemias (p<0,01). Also, this mutation was significantly high in PV patients comparing with the other myeloproliferative disorders (P<0,05). We found statistically significance between genotype and allels distribution of JAK2V617F mutation (p<0.001) and determined that T-allels may be risk of disease in terms of allel distrubition (p<0.001). Thsi study is one of the widest series to investigation of JAK2V617F mutation frequency especially in childhood hematologic malignancies and we showed that this mutation is almost all 0% in this age group. On the other hand, we showed that JAK2V617F mutation with using realtime PCR test is very useful test for diagnosing PV and ET desase. Disclosures: No relevant conflicts of interest to declare.

Sign in / Sign up

Export Citation Format

Share Document