Mediterranean Journal of Hematology and Infectious Diseases https://www.mjhid.org/index.php/mjhid <p style="font-size: 14px;">The Journal publishes original articles and topical reviews concerning both clinical hematology and infectious diseases. A particular attention will be deserved to original articles focusing on the relationship between blood and infectious diseases.</p> <p><strong>The Mediterranean Journal of Hematology and Infectious Diseases has been selected for coverage in </strong><strong>Clarivate Analytics products and services. <br>Beginning with V. 7 (1) 2015, this publication is indexed and abstracted in:</strong><br> <strong>♦ Science Citation Index Expanded</strong><br> <strong>♦ Journal Citation Reports/InCites</strong></p> <p><strong>♦ First <strong>2017 <strong>official</strong> </strong>Impact Factor: 1.183</strong></p> <p><strong>♦ Official Impact Factor 2018. 1.586</strong></p> <p><span style="font-size: 12px;"><strong><span class="info_label" style="color: #757472; text-transform: none; text-indent: 0px; letter-spacing: normal; font-family: 'Open Sans',sans-serif,icomoon; font-style: normal; word-spacing: 0px; white-space: normal; background-color: #ffffff;">ISI Journal Citation Reports @ Ranking: 2017</span></strong></span></p> <p><strong>List of contents:</strong></p> <p>&nbsp;</p> <p><strong>12:(1) (2020): </strong><strong><a title="Volume 12, Year 2020" href="https://www.mjhid.org/index.php/mjhid/issue/view/91"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>&nbsp;</p> <p><strong>11:(1) (2019): </strong><strong><a title="Volume 11, Year 2019" href="https://www.mjhid.org/index.php/mjhid/issue/view/90"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p><strong>Reviews Series</strong></p> <ul> <li class="show">UPDATE ON THALASSEMIA AND HEMOGLOBINOPATHIES. Guest Editor: Raffaella Origa<strong>. </strong><a href="/index.php/mjhid/announcement/view/82">More...</a></li> </ul> <p><strong>10:(1) (2018): <a title="Volume 10, Year 2018" href="https://www.mjhid.org/index.php/mjhid/issue/view/Volume%2010%2C%202018"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p><strong>Review Topics:</strong></p> <ul> <li class="show">UPDATE ON VIRAL INFECTIONS AND LYMPHOPROLIFERATIVE DISEASES. Guest Editors: M. Luppi and L. Arcaini <a href="/index.php/mjhid/announcement/view/73">More...</a></li> </ul> <p><strong>9:(1) (2017): </strong><strong><a title="Volume 9, Year 2017" href="https://www.mjhid.org/index.php/mjhid/issue/view/9%281%29"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a>ORIGINAL ARTICLES, REVIEWS:</strong></p> <p><strong>Review Topics:</strong></p> <ul> <li class="show">UPDATE ON SECONDARY LEUKEMIAS. Guest Editor: Richard Larson <a href="/index.php/mjhid/announcement/view/59">More...</a></li> <li class="show">UPDATE on “Rare Plasma Cell Dyscrasias” Guest Editor M.T. PETRUCCI <a href="/index.php/mjhid/announcement/view/49">More...</a></li> </ul> <p><strong>8:(1) (2016): <a title="Volume 8, Year 2016" href="https://www.mjhid.org/index.php/mjhid/issue/view/78"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p><strong>Review Topics:</strong></p> <ul> <li class="show">HEMATOPOIETIC STEM CELL TRANSPLANTATION AND INFECTIONS. Guest Editor: Miguel Sanz <a href="/index.php/mjhid/announcement/view/37">More...</a></li> <li class="show">REVIEW SERIES: UPDATE ON FOLLICULAR LYMPHOMA. Guest Editor: Corrado Tarella <a href="/index.php/mjhid/announcement/view/39">More...</a></li> </ul> <p><strong>8:(Supplementary Issue) (2016): <a href="https://www.mjhid.org/index.php/mjhid/issue/view/79"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> Fifth International Symposium on Secondary Leukemia and Leukemogenesis</strong></p> <p><strong>7:(1) (2015): <a title="Volume 7, Year 2015" href="https://www.mjhid.org/index.php/mjhid/issue/view/75"><img src="/public/site/images/fguidi/FRECCE0014.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>Review Topics:</p> <ul> <li class="show">MYELODYSPLASTIC SYNDROMES. AN UPDATE. SINCE 2015. Guest Editors: C. Mecucci and M.T. Voso. <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/24">More...</a></li> <li class="show">BACTERIAL INFECTIONS IN HEMATOLOGIC PATIENTS: AN UPDATE. SINCE 2015.Guest Editors F. Aversa and M. Tumbarello <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/25">More...</a></li> </ul> <p><strong>6:(1) (2014): <a title="Volume 6, Year 2014" href="https://www.mjhid.org/index.php/mjhid/issue/view/39"><img src="/public/site/images/fguidi/FRECCE0013.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>Review Topics:</p> <ul> <li class="show">CHRONIC MYELOID LEUKEMIAS: AN UPDATE. Guest Editors: M. Baccarani and F. Pane. <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/21">More...</a></li> <li class="show">UPDATE IN HODGKIN LYMPHOMA. Guest Editor: A. Gallamini <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/22">More...</a></li> <li class="show">ACUTE LYMPHOID LEUKEMIA IN ADULTS: AN UPDATE. Guest Editors: R. Bassan and A.Rambaldi <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/23">More...</a></li> </ul> <p><strong>5:(1) (2013): <a title="Volume 5, Year 2013" href="https://www.mjhid.org/index.php/mjhid/issue/view/20"><img src="/public/site/images/fguidi/FRECCE0012.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>Review Topics:</p> <ul> <li class="show">ACUTE MYELOID LEUKEMIA IN THE ELDERLY. Guest Editors: S. Amadori and A. Venditti. <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/19">More...</a></li> <li class="show">VON WILLEBRAND FACTOR UPDATE. Guest Editors: A. Federici and F. Rodeghiero. <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/18">More...</a></li> <li class="show">TUBERCULOSIS UPDATE. Guest Editors: R. Cauda and A. Matteelli. <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/20">More...</a></li> </ul> <p><strong>4:(1) (2012): <a title="Malaria In The World, Chronic Lymphoid Leukemia, Autologous Hemopoietic Stem Cell Transplantation In Leukemia And Lymphoma" href="https://www.mjhid.org/index.php/mjhid/issue/view/19"><img src="/public/site/images/fguidi/FRECCE0011.gif" alt=""></a>ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>Review Topics:</p> <ul> <li class="show">MALARIA IN THE WORLD: 2012 Update. Guest Editors: F. Castelli and E. Pizzigallo <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/12">More...</a></li> <li class="show">CHRONIC LYMPHOID LEUKEMIA: Update on Immunological Dysfunctions and Infections. Guest Editors: D. Efremov and L. Laurenti <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/17">More...</a></li> <li class="show">AUTOLOGOUS HEMOPOIETIC STEM CELL TRANSPLANTATION IN LEUKEMIA AND LYMPHOMA: 2012 UPDATE. Guest Editors: G. Meloni and G. Visani <a href="https://www.mjhid.org/index.php/mjhid/announcement/view/13">More...</a></li> </ul> <p><strong>3:(1) (2011): <a title="Fungal Infections, Thrombosis In The Mediterranean Area, Acute Promyelocytic Leukemia In The Mediterranean Area And In The Developing Countries, Therapy-Related Myeloid Neoplasms." href="https://www.mjhid.org/index.php/mjhid/issue/view/18"><img src="/public/site/images/fguidi/FRECCE001.gif" alt=""></a> ORIGINAL ARTICLES, REVIEWS:</strong></p> <p>Review Topics:</p> <ul> <li class="show">FUNGAL INFECTIONS. Guest Editor: L. Pagano <a style="color: #990000;" href="https://www.mjhid.org/index.php/mjhid/announcement/view/8">More...</a></li> <li class="show">THROMBOSIS IN THE MEDITERRANEAN AREA. Guest Editor: V. De Stefano <a style="color: #990000;" href="https://www.mjhid.org/index.php/mjhid/announcement/view/9">More...</a></li> <li class="show">ACUTE PROMYELOCYTIC LEUKEMIA IN THE MEDITERRANEAN AREA AND IN THE DEVELOPING COUNTRIES: Guest Editors: F. Lo-Coco and G. Avvisati <a style="color: #990000;" href="https://www.mjhid.org/index.php/mjhid/announcement/view/10">More...</a></li> <li class="show">THERAPY-RELATED MYELOID NEOPLASMS: Guest Editor: R. Larson <a style="color: #990000;" href="https://www.mjhid.org/index.php/mjhid/announcement/view/11">More...</a></li> </ul> en-US <p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<a href="https://creativecommons.org/licenses/by-nc/4.0" target="_blank" rel="noopener">https://creativecommons.org/licenses/by-nc/4.0</a>) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p> <p><strong>Transfer of Copyright and Permission to Reproduce Parts of Published Papers.</strong>&nbsp;Authors will grant copyright of their articles to the Institute of Hematology, Catholic University, Rome . No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent.&nbsp;<strong>Reproductions with commercial intent will require written permission and payment of royalties.</strong></p> <div class="grammarly-disable-indicator">&nbsp;</div> gleone@mjhid.org (Giuseppe Leone) guidif@hotmail.com (Dr. PhD. Francesco Guidi) Wed, 01 Jan 2020 00:00:00 +0000 OJS 3.1.2.4 http://blogs.law.harvard.edu/tech/rss 60 CONCISE REVIEW ON THE FREQUENCY, MAJOR RISK FACTORS AND SURVEILLANCE OF HEPATOCELLULAR CARCINOMA (HCC) IN Β-THALASSEMIAS: PAST, PRESENT AND FUTURE PERSPECTIVES https://www.mjhid.org/index.php/mjhid/article/view/2020.006 <p>Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy, and Greece. Among HCV-infected patients additional factors promoting development of&nbsp; HCC, included: advanced age, male sex, chronic hepatitis B (CHB) coinfection, and iron overload. For early diagnosis of HCC sequential ultrasound screening&nbsp; is recommended&nbsp; especially for thalassemia patients with chronic hepatitis C (CHC), that coincide with (one or more) additional risk factors for HCC. &nbsp;Here we report also the preliminary data of thalassemic patients, above the age of 30 years, followed in 13 different centers. The total number of enrolled patients was 1,313 (males: 612 and 701 females). The prevalence of HCC in thalassemia major patients [characterized by transfusion-dependency (TDT)] and thalassemia intermedia [characterized by nontransfusion dependency (NTDT)] was 1.68 % and 1.98 % ,respectively The lowest age at diagnosis was 36 years in TDT and 47 years in NTDT patients.We hope that our review can be used to develop more refined and prospective analyses of HCC magnitude and risk in patients with thalassemia, and to define specific international guidelines to support clinicians for an early diagnosis and treatment of HCC in thalassemic patients.</p> Vincenzo De Sanctis Copyright (c) 2020 Vincenzo De Sanctis https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.006 Wed, 01 Jan 2020 00:00:00 +0000 MOLECULAR MECHANISMS OF INHIBITOR DEVELOPMENT IN HEMOPHILIA https://www.mjhid.org/index.php/mjhid/article/view/2020.001 <p>The development of neutralizing antibodies in hemophilia is a serious complication of factor replacement therapy. These antibodies, also known as “inhibitors”, significantly increase morbidity within the hemophilia population and lower the quality of life for these patients. People with severe hemophilia A have an overall 25-40% lifetime risk of inhibitor development, compared to that of 5-15% lifetime risk in those with moderate/mild hemophilia A. The risk is lower in hemophilia B population (about 1-5%) and occurrence of inhibitors is almost only seen in patients with severe hemophilia B. The understanding of the pathophysiological mechanism leading to the development of inhibitors in patients with hemophilia has improved considerably over the last 2 decades. Identification of early biomarkers which predict inhibitor development in previously untreated patients with hemophilia will assist in risk identification and possible early intervention strategies. In this review, we aim to summarize the molecular mechanisms of inhibitor development in hemophilia and to identify potential areas in need of further investigation.</p> Davide Matino, Paul Tieu, Antony Chan Copyright (c) 2019 Davide Matino, Paul Tieu, Dr., Antony Chan https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.001 Wed, 01 Jan 2020 00:00:00 +0000 THE HISTORY OF DEFERIPRONE (L1) AND THE COMPLETE TREATMENT OF IRON OVERLOAD IN THALASSAEMIA https://www.mjhid.org/index.php/mjhid/article/view/2020.011 <p>Deferiprone (L1) was originally designed, synthesised and screened in vitro and in vivo in 1981 by Kontoghiorghes G J following his discovery of the novel alpha-ketohydroxypyridine class of iron chelators (1978-1981), which were intended for clinical use. The journey through the years for the treatment of thalassaemia with L1 has been a very difficult one with intriguing turn of events, which continue until today. Despite many complications, such as the wide use of L1 suboptimal dose protocols, the aim of chelation therapy- namely the complete removal of excess iron in thalassaemia major patients, has been achieved following the introduction of specific L1 and L1/deferoxamine combinations. Many such patients continue to maintain normal iron stores. As a result of the introduction of L1, thalassaemia has changed from a fatal to a chronic disease and thalassaemia patients are active professional members in all sectors of society, have their own families with children and grandchildren and their lifespan is approaching that of normal individuals. No changes in the low toxicity profile of L1 have been observed in more than 30 years of clinical use. Thousands of thalassaemia patients are still denied the cardioprotective and other beneficial effects of L1 therapy. The safety of L1 in thalassaemia and other non-iron loaded diseases resulted in its selection as one of the leading therapeutics for the treatment of Friedreich’s ataxia, pantothenate kinase-associated neurodegeneration and other&nbsp;similar cases. There are also increasing prospects for the application of L1 as a main, alternative or adjuvant therapy in many pathological conditions including cancer, infectious diseases and as a general antioxidant for diseases related to free radical pathology.</p> George J Kontoghiorghes, Marios Kleanthous, Christina N. Kontoghiorghe Copyright (c) 2020 George J Kontoghiorghes, Marios Kleanthous, Christina N. Kontoghiorghe https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.011 Wed, 01 Jan 2020 00:00:00 +0000 THE EVOLVING PHARMACOTHERAPEUTIC LANDSCAPE FOR THE TREATMENT OF SICKLE CELL DISEASE https://www.mjhid.org/index.php/mjhid/article/view/2020.010 <p>Sickle cell disease (SCD) is an extremely heterogeneous disease that has been associated with global morbidity and early mortality. More effective and inexpensive therapiesare needed. During the last five years the landscape of the pharmacotherapy of SCD has changed dramatically. Currently, there are at least 50 drugs that have been used or under consideration to use for the treatment of SCD. These fall into 3 categories: the first category includes the three drugs (Hydroxyurea, L-Glutamine and Crizanlizumab tmca) that have been approved by the United States Food and Drug Administration (FDA) based on successful clinical trials. The second category includes 22 drugs that failed, discontinued or terminated for now and the third category includes 25 drugs that are actively being considered for the treatment of SCD. New therapies targeting multiple pathways in its complex pathophysiology have been achieved or are under continued investigation. The emerging trend seems to be the use of multimodal drugs (i.e. drugs that have different mechanisms of action) to treat SCD similar to the use of multiple chemotherapeutic agents to treat cancer.</p> Samir Ballas Copyright (c) 2020 Samir Ballas https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.010 Wed, 01 Jan 2020 00:00:00 +0000 FEBRILE NEUTROPENIA IN ACUTE LEUKEMIA. EPIDEMIOLOGY, ETIOLOGY, PATHOPHYSIOLOGY AND TREATMENT https://www.mjhid.org/index.php/mjhid/article/view/2020.009 <p>Acute leukemias are a group of aggressive malignant diseases associated with a high degree of morbidity and mortality. An important cause of both the latter is infectious complications. Patients with acute leukemia are highly susceptible to infectious diseases due to factors related to the disease itself, factors attributed to treatment, and specific individual risk factors in each patient. Patients with chemotherapy-induced neutropenia are at particularly high risk, and microbiological agents include viral, bacterial and fungal agents. The etiology is often unknown in infectious complications, although adequate patient evaluation and sampling have diagnostic, prognostic and treatment-related consequences. Bacterial infections include a wide range of potential microbes, both Gram-negative and Gram-positive species, while fungal infections include both mold and yeast. A recurring problem is increasing resistance to antimicrobial agents, and in particular, this applies to extended-spectrum beta-lactamase resistance (ESBL), <em>Pseudomonas aeruginosa</em>, methicillin-resistant <em>Staphylococcus aureus</em> (MRSA), vancomycin-resistant <em>Enterococcus</em> (VRE) and even carbapenemase-producing <em>Enterobacteriaceae</em> (CPE). International guidelines for the treatment of sepsis in leukemia patients include the use of broad-spectrum Pseudomonas-acting antibiotics. However, one should implant the knowledge of local microbiological epidemiology and resistance conditions in treatment decisions. Here, we discuss infectious diseases in acute leukemia with a major focus on febrile neutropenia and sepsis, and we problematize the diagnostic, prognostic, and therapeutic aspects of infectious complications in this patient group. Meticulously and thorough clinical and radiological examination combined with adequate microbiology samples are cornerstones of the examination. Diagnostic and prognostic evaluation includes patient review according to the multinational association for supportive care in cancer (MASCC) and sequential organ failure assessment (SOFA) scoring system. Antimicrobial treatments for important etiological agents are presented. The main challenge for reducing the spread of resistant microbes is to avoid unnecessary antibiotic treatment, but without giving to narrow treatment to the febrile neutropenic patient that reduce the prognosis.</p> Bent-Are Hansen, Øystein Wendelbo, Øyvind Bruserud, Anette Lodvir Hemsing, Knut Anders Mosevoll, Håkon Reikvam Copyright (c) 2020 Bent-Are Hansen, Øystein Wendelbo, Øyvind Bruserud, Anette Lodvir Hemsing, Knut Anders Mosevoll, Håkon Reikvam https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.009 Mon, 30 Dec 2019 21:11:05 +0000 CARDIOVASCULAR RISK IN ESSENTIAL THROMBOCYTHEMIA AND POLYCYTHEMIA VERA: THROMBOTIC RISK AND SURVIVAL https://www.mjhid.org/index.php/mjhid/article/view/2020.008 <p class="western"><span style="color: #1c1d1e;"><span style="font-family: Arial, serif;"><span style="font-size: large;"><span lang="en-US"><strong>Abstract</strong></span></span></span></span></p> <p class="western" align="justify"><a name="tw-target-text"></a> <span style="color: #000000;"><span style="font-family: Arial, serif;"><span style="font-size: large;"><span lang="en-US">Thromboembolic and bleeding events pose a severe risk for patients with Polycythemia Vera (PV) and Essential Thrombocythemia (ET). Many factors can contribute to determine the thrombotic event, including the interaction between platelets, leukocytes and endothelium alterations. Moreover, a very important role can be played by cardiovascular risk factors (CV.R) such as cigarette smoking habits, hypertension, diabetes, obesity and dyslipidemia. In this study we evaluated the impact that CV.R plays on thrombotic risk and survival in patients with PV and ET.</span></span></span></span></p> Vincenzo Accurso, Marco Santoro, Salvatrice Mancuso, Angelo Davide Contrino, Paolo Casimio, Mariano Sardo, Simona Raso, Florinda Di Piazza, Alessandro Perez, Marco Bono, Antonio Russo, Sergio Siragusa Copyright (c) 2020 Vincenzo Accurso, Maro Santoro, Salvatrice Mancuso, Angelo Davide Contrino, Paolo Casimio, Mariano Sardo, Simona Raso, Florinda Di Piazza, Alessandro Perez, Marco Bono, Antonio Russo, Sergio Siragusa https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.008 Wed, 01 Jan 2020 00:00:00 +0000 CANDIDEMIA IN PATIENTS WITH ACUTE LEUKEMIA: ANALYSIS OF SEVEN YEARS’ EXPERIENCE AT A SINGLE CENTER IN CHINA https://www.mjhid.org/index.php/mjhid/article/view/2020.003 <p>The study of candidemia in Chinese leukemia patients has been limited. This retrospective study aims to investigate the characteristics and prognostic factors of candidemia among leukemia patients in a Chinese chemotherapy center.</p> <p>From 2009 to 2015, 30 isolates of candidemia were detected in 19 patients with acute leukemia after chemotherapy. The overall incidence of candidemia was 2.12 episode per 1000 admissions<em>. </em><em>Candida tropicalis</em> was the most common <em>Candida</em> species (n = 17; 89.5%), followed by <em>Candida albicans</em> (n = 2; 10.5%). The most common underlying disease was acute myeloid leukemia (94.7%) and induction chemotherapy phase was the most susceptible stage. The vast majority of candidal infections are endogenous rather than central venous catheter-related. The overall 30-day crude mortality rate was 31.6%. Neutrophil recovery (P = 0.000) and initiation of empiric antifungal treatment before first positive blood culture (P = 0.041) were associated with a significant improvement in overall survival.</p> <p>Although the incidence of candidaemia appears to be quite low in patients with leukemia submitted to intensive chemotherapy, its high mortality rate continues to be a crucial problem despite the availability of new effective antifungal drugs. Early diagnosis followed by rapid antifungal treatment remains the cornerstone of successful management. Catheter removal should be considered on an individual basis. The widespread use of newer antifungal agents as prophylaxis among patients with acute leukemia may result in a decreased candidemia incidence.</p> Xiaoyuan Gong, mianzeng yang, Dong Lin, Hui Wei, Ying Wang, Bingchen Liu, Chunlin Zhou, Kaiqi Liu, Shuning Wei, Benfa Gong, Guancji Zhang, Yuntao Liu, Yan Li, Xingli Zao, Shaowei Qiu, Ruxia Gu, Yingchang Mi, Jianxiang Wang Copyright (c) 2020 Xiaoyuan Gong, mianzeng yang, Dong Lin, Hui Wei, Ying Wang, Bingchen Liu, Chunlin Zhou, Kaiqi Liu, Shuning Wei, Benfa Gong, Guancji Zhang, Yuntao Liu, Yan Li, Xingli Zao, Shaowei Qiu, Ruxia Gu, Yingchang Mi, Jianxiang Wang https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.003 Wed, 01 Jan 2020 00:00:00 +0000 THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA https://www.mjhid.org/index.php/mjhid/article/view/2020.004 <p><strong>Background: </strong>Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.<sup>(1)</sup> The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. <strong><sup>(2)</sup></strong></p> <p><strong>Aim:</strong> To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria.</p> <p><strong>Materials &amp; Method:</strong> The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500.</p> <p><strong>Results:</strong> The mean age was 45.98±15.7 yrs in CML patients and&nbsp;&nbsp; 39.3±6.587 yrs in control group (p&gt;0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p&gt;0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p&lt;0.05).</p> <p><strong>Conclusions/Recommendation:</strong> TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.</p> Enas A Dammag, Nahla A.M. Hamed, Nabil A El Halawani, Heba S Kassem, Mona W Ayad Copyright (c) 2020 Enas A Dammag, Nahla A.M. Hamed, Professor, Nabil A El Halawani, Professor, Heba S Kassem, Professor, Mona W Ayad, Professor https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.004 Wed, 01 Jan 2020 00:00:00 +0000 Chronic-graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation. https://www.mjhid.org/index.php/mjhid/article/view/2020.002 <p align="justify"><a name="__DdeLink__174_756140867"></a> <span style="color: #000000;"><span style="font-family: Courier, 'Courier New', serif;"><span style="font-size: small;"><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB"><strong>Background: </strong></span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">Chronic graft versus host disease (cGVHD) occurs in 20-30% of paediatric patients receiving haemopoietic stem cell transplantation (HSCT). Neuromuscular disorders such as polymyositis are considered a rare and distinctive but non-diagnostic manifestation of cGVHD and, in absence of other characteristic signs and symptoms, biopsy is highly recommended to exclude other causes. </span></span></span></span></span></span></p> <p align="justify"><span style="color: #000000;"><span style="font-family: Courier, 'Courier New', serif;"><span style="font-size: small;"><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB"><strong>Case report:</strong></span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB"> We report a case of a 17-months-old child </span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">affected by hemophagocytic </span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">lymphohistiocytosis who</span></span></span> <span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">underwent a matched </span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">unrelated donor </span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">haematopoietic stem cell transplantation (</span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">HSCT). She </span></span></span><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;"><span lang="en-GB">developed a severe cGVHD-related polymyositis that was successfully treated with high-dose steroid therapy, rituximab and sirolimus. </span></span></span></span></span></span></p> <p class="western" lang="en-GB" align="justify"><span style="color: #000000;"><span style="font-family: 'Times New Roman', serif;"><strong>Conclusions: </strong></span></span><span style="color: #000000;"><span style="font-family: 'Times New Roman', serif;"><span style="font-size: medium;">This is the first case of cGVHD-related-polymyositis described in a pediatric patient which was successfully treated with rituximab.</span></span></span></p> Matteo Chinello, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Paola Tonin, Gaetano Vattemi, Valeria Guglielmi, Simone Cesaro Copyright (c) 2020 Matteo Chinello, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Paola Tonin, Gaetano Vattemi, Valeria Guglielmi, Simone Cesaro https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.002 Wed, 01 Jan 2020 00:00:00 +0000 Successful planned pregnancy through vitrified-warmed embryo transfer in a woman with chronic myeloid leukemia: case report and literature review https://www.mjhid.org/index.php/mjhid/article/view/2020.005 <p>A 35-year-old female patient with chronic myeloid leukemia wanted to have a child. She had been treated with imatinib and had achieved major molecular remission, after which imatinib was intentionally discontinued and interferon-α treatment was initiated. After three failed cycles of artificial insemination with her husband’s semen, the patient underwent treatment with assisted reproductive technology. After two cycles of <em>in vitro</em> fertilization, two embryos (8-cell stage and blastocyst) were cryopreserved. The patient again had elevated <em>BCR/ABL</em> mRNA levels; thus, infertility treatment was discontinued. After 18 months of dasatinib treatment, major molecular remission was observed and the patient underwent vitrified–warmed embryo transfer with a single blastocyst. Thereafter, she became pregnant. Discontinuation of tyrosine kinase inhibitors combined with the timely initiation of infertility treatments, including assisted reproductive technology, may be useful for treating women with CML who wish to become pregnant.</p> Toshifumi Takahashi Copyright (c) 2020 Toshifumi Takahashi https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.005 Wed, 01 Jan 2020 00:00:00 +0000 Hepatic Infiltration with Malignant T-cells Manifesting as Impending Acute Liver failure in Mycosis Fungoides with Large Cell Transformation https://www.mjhid.org/index.php/mjhid/article/view/2020.007 <p>Here we described a patient with a history of mycosis fungoides who developed large cell transformation manifesting with generalized erythroderma, lymphocytosis, lymphadenopathy and impending acute liver failure (ALF). Three-phase computed tomography of the liver showed neither mass nor hepatomegaly. Liver biopsy confirmed infiltration with malignant CD4+ clonal T-cells. Combination chemotherapy with gemcitabine, dexamethasone, and cisplatin (GDP) resulted in the recovery of liver function and resolution of skin involvement. In Foundation Medicine Hematology Gene Panel, 31 genetic alterations with 11 clinically relevant mutations were identified including ARID2 mutation frequently observed in hepatocellular carcinoma but rarely observed in hematologic malignancies.</p> Yumeng Zhang, Jinming Song, David Rutenberg, Lubomir Sokol Copyright (c) 2020 Yumeng Zhang, Jinming Song, David Rutenberg, Lubomir Sokol https://creativecommons.org/licenses/by-nc/4.0 https://www.mjhid.org/index.php/mjhid/article/view/2020.007 Wed, 01 Jan 2020 00:00:00 +0000