Mediterranean Journal of Hematology and Infectious Diseases最新文献

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Evaluation of VTE-PREDICT Risk Score in Patients Receiving Low-Dose DOACs for Venous Thromboembolism (VTE) Secondary Prophylaxis. 评估接受低剂量 DOACs 静脉血栓栓塞 (VTE) 二级预防治疗的患者的 VTE-PREDICT 风险评分。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-05-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.047
Alessandro Laganà, Giovanni Manfredi Assanto, Mauro Passucci, Cristina Santoro, Antonio Chistolini
{"title":"Evaluation of VTE-PREDICT Risk Score in Patients Receiving Low-Dose DOACs <b>f</b>or Venous Thromboembolism (VTE) Secondary Prophylaxis.","authors":"Alessandro Laganà, Giovanni Manfredi Assanto, Mauro Passucci, Cristina Santoro, Antonio Chistolini","doi":"10.4084/MJHID.2024.047","DOIUrl":"10.4084/MJHID.2024.047","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024047"},"PeriodicalIF":3.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Antiviral and Monoclonal Antibody Combination Therapy in Haematological Patients in the Omicron Era. 欧姆龙时代血液病患者的抗病毒和单克隆抗体联合疗法
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-05-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.043
Serena Vita, Emanuela Giombini, Patrizia De Marco, Martina Rueca, Cesare Ernesto Maria Gruber, Alessia Beccacece, Laura Scorzolini, Valentina Mazzotta, Carmen Pinnetti, Priscilla Caputi, Daniele Focosi, Enrico Girardi, Andrea Antinori, Fabrizio Maggi, Alessandra D'Abramo, Emanuele Nicastri
{"title":"Antiviral and Monoclonal Antibody Combination Therapy in Haematological Patients in the Omicron Era.","authors":"Serena Vita, Emanuela Giombini, Patrizia De Marco, Martina Rueca, Cesare Ernesto Maria Gruber, Alessia Beccacece, Laura Scorzolini, Valentina Mazzotta, Carmen Pinnetti, Priscilla Caputi, Daniele Focosi, Enrico Girardi, Andrea Antinori, Fabrizio Maggi, Alessandra D'Abramo, Emanuele Nicastri","doi":"10.4084/MJHID.2024.043","DOIUrl":"10.4084/MJHID.2024.043","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024043"},"PeriodicalIF":3.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and Laboratory Features of Sickle Cell Disease S/D Punjab: Impact of HbF and Hydroxyurea. 旁遮普镰状细胞病 S/D 的临床和实验室特征:HbF 和羟基脲的影响。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-05-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.046
S Alkindi, I B M Al-Busaidi, A V Pathare
{"title":"Clinical and Laboratory Features of Sickle Cell Disease S/D Punjab: Impact of HbF and Hydroxyurea.","authors":"S Alkindi, I B M Al-Busaidi, A V Pathare","doi":"10.4084/MJHID.2024.046","DOIUrl":"10.4084/MJHID.2024.046","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is a major public health issue worldwide with high morbidity and mortality. SCD SD Punjab is the third most common genotype of SCD in Oman and is associated with several serious complications. The aim of the study is to establish the clinical and laboratory features of SCD patients with SD double heterozygotes and study the impact of haemoglobin F, hydroxyurea, and other modulators on the disease severity.</p><p><strong>Methods: </strong>We analysed the electronic medical records of 52 consecutive SCD patients who were diagnosed as double heterozygote SD Punjab between 2006 and 2022. The study was approved by the local medical research and ethics committee. The data captured included SCD-related complications and current clinical and laboratory indices. Data from other studies on other SCD genotypes were used as historical controls.</p><p><strong>Results: </strong>52 patients (31 males, 21 females) who formed this cohort had a median age of 32 years with an interquartile range (IQR) of 21-39.8 years. 37(71.2%) had <3 VOC per year, whereas 15 (28.8%) patients had ≥3 vasooclusive (VOC) episodes per year. SCD-related complications included Acute Chest Syndrome (ACS) (48%), Gall stones (26.9%), Avascular necrosis (AVN) (28.8%), Stroke (13.5%) and splenic sequestration (7.7%), whereas 5 (9.6%) patients of this cohort died. Surgical and Autosplenectomy were seen in 18 (34.6%). These findings were similar to other SCD genotypes in this community. 19 (57.6%) were taking Hydroxyurea (HU) amongst the 33 patients who were prescribed HU. Haematological parameters showed a median (IQR) Hb (g/dl), MCV (fl), Retic count (%), WBC count(×10<sup>9</sup>/L) and Platelet count(×10<sup>9</sup>/L) of 9.7 (8.5-11.3), 74.9 (68.4-79.8), 4 (3.2-5.7), 9.9 (8.1-12.6) and 309 (239-428) respectively. The haemoglobin electrophoresis showed an elevated HbF, whereas serum bilirubin and LDH were elevated amongst the biochemical parameters. The use of hydroxyurea showed no impact on VOC, ACS, AVN, Stroke or mortality.</p><p><strong>Conclusion: </strong>SD Punjab is the third most common SCD genotype in Oman and was associated with recurrent VOC, ACS, AVN, and gall stones comparable to other SCD genotypes. Patients with > 3 VOC/year had significantly increased incidence of Stroke, AVN, and gallstones. However, HU was not associated with improved prognosis and better survival in this cohort of patients.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024046"},"PeriodicalIF":3.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant. 复杂核型和 ETV6 变异骨髓增生异常肿瘤患儿的异基因造血干细胞移植结果
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-05-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.040
Elaiza Almeida Antônio de Kós, Viviane Lamim Lovatel, Rita de Cássia Barbosa Tavares, Gerson Moura Ferreira, Bernadete Gomes, Ana Paula Silva Bueno, Elaine Sobral da Costa, Teresa de Souza Fernandez
{"title":"Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and <i>ETV6</i> Variant.","authors":"Elaiza Almeida Antônio de Kós, Viviane Lamim Lovatel, Rita de Cássia Barbosa Tavares, Gerson Moura Ferreira, Bernadete Gomes, Ana Paula Silva Bueno, Elaine Sobral da Costa, Teresa de Souza Fernandez","doi":"10.4084/MJHID.2024.040","DOIUrl":"10.4084/MJHID.2024.040","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024040"},"PeriodicalIF":3.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Daratumumab on Stem Cell Mobilization and Transplant in Patient with Newly Diagnosed Multiple Myeloma: A Real Word Single-Centre Study. 达拉单抗对新诊断多发性骨髓瘤患者干细胞动员和移植的影响:单中心实证研究
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.041
Mauro Passucci, Francesca Fazio, Jacopo Micozzi, Manhaz Shafii Bafti, Giovanni Assanto, Alfonso Piciocchi, Maurizio Martelli, Maria Teresa Petrucci
{"title":"Impact of Daratumumab on Stem Cell Mobilization and Transplant in Patient with Newly Diagnosed Multiple Myeloma: A Real Word Single-Centre Study.","authors":"Mauro Passucci, Francesca Fazio, Jacopo Micozzi, Manhaz Shafii Bafti, Giovanni Assanto, Alfonso Piciocchi, Maurizio Martelli, Maria Teresa Petrucci","doi":"10.4084/MJHID.2024.041","DOIUrl":"10.4084/MJHID.2024.041","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024041"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11178051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Hydroxyurea on Clinical and Biological Parameters of Sickle Cell Anemia in Children in Abidjan. 羟基脲对阿比让镰状细胞性贫血患儿临床和生物学参数的影响。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.026
Mireille Yayo-Aye, Adia Eusèbe Adjambri, Boidy Kouakou, Rebecca N'guessan-Blao, Louis Missa Adjé, Tairatou Kamagaté, Vincent Yapo, Duni Sawadogo
{"title":"Impact of Hydroxyurea on Clinical and Biological Parameters of Sickle Cell Anemia in Children in Abidjan.","authors":"Mireille Yayo-Aye, Adia Eusèbe Adjambri, Boidy Kouakou, Rebecca N'guessan-Blao, Louis Missa Adjé, Tairatou Kamagaté, Vincent Yapo, Duni Sawadogo","doi":"10.4084/MJHID.2024.026","DOIUrl":"10.4084/MJHID.2024.026","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024026"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pneumatosis Cystoides Intestinalis with Fatal Air Embolism after Minor Blunt Abdominal Trauma in a 6-Year-Old Girl Undergoing Hematopoietic Stem Cell Trasplant: Case Report and Review of Literature. 一名正在接受造血干细胞移植的 6 岁女孩因轻微腹部钝性外伤导致肠囊性肺炎并伴有致命的空气栓塞:病例报告和文献综述。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.028
Matteo Chinello, Olivia Chapin Arnone, Silvia Artusa, Giorgia Mazzuca, Elisa Bonetti, Virginia Vitale, Ada Zaccaron, Dario Raniero, Simone Cesaro
{"title":"Pneumatosis Cystoides Intestinalis with Fatal Air Embolism after Minor Blunt Abdominal Trauma in a 6-Year-Old Girl Undergoing Hematopoietic Stem Cell Trasplant: Case Report and Review of Literature.","authors":"Matteo Chinello, Olivia Chapin Arnone, Silvia Artusa, Giorgia Mazzuca, Elisa Bonetti, Virginia Vitale, Ada Zaccaron, Dario Raniero, Simone Cesaro","doi":"10.4084/MJHID.2024.028","DOIUrl":"10.4084/MJHID.2024.028","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024028"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rituximab versus Splenectomy in Chronic Primary ITP: Experience of a Single Hematology Clinic. 利妥昔单抗与脾切除术治疗慢性原发性 ITP:一家血液病诊所的经验。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.019
Rawand Polus Shamoon, Ahmed Khudair Yassin, Sarah Laith Alnuaimy
{"title":"Rituximab versus Splenectomy in Chronic Primary ITP: Experience of a Single Hematology Clinic.","authors":"Rawand Polus Shamoon, Ahmed Khudair Yassin, Sarah Laith Alnuaimy","doi":"10.4084/MJHID.2024.019","DOIUrl":"10.4084/MJHID.2024.019","url":null,"abstract":"<p><strong>Background: </strong>Immune thrombocytopenia (ITP) is an acquired immune-mediated disease that lacks an underlying etiology. Steroids are the main first-line treatment of ITP, while the second-line treatment consists primarily of splenectomy and rituximab. This study aimed to assess and compare the response to rituximab and splenectomy.</p><p><strong>Methods: </strong>This retrospective comparative study reviewed ITP patients treated at a single private hematology clinic from 2007 to 2019. Seventy-four ITP patients were recruited, 27 were on rituximab, and 47 had undergone splenectomy. The initial platelet counts and bleeding symptoms were recorded, and initial and long-term responses to treatment were evaluated based on the American Society of Hematology guidelines.</p><p><strong>Results: </strong>The mean age of the patients was 42.1 years with a male-to-female ratio of 1:1.8. The initial mean platelet count was comparable between the rituximab and splenectomy groups (p = 0.749). The initial complete response (CR) differed significantly between the rituximab and splenectomy groups (44.4% versus 83%, p = 0.002). The five-year response rate was significantly higher in the splenectomy than in the rituximab group (74% versus 52%, log-rank 0.038). Splenectomy was the only significant predictive factor for long-term response (OR = 0.193, p = 0.006).</p><p><strong>Conclusion: </strong>The overall response revealed that splenectomy appeared superior to rituximab as a second-line treatment of ITP. Splenectomy was the only positive prognostic indicator of sustained response.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024019"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses. 一些红细胞增多症患者同时存在多种基因变异。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.021
Andrea Benetti, Irene Bertozzi, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi
{"title":"Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.","authors":"Andrea Benetti, Irene Bertozzi, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi","doi":"10.4084/MJHID.2024.021","DOIUrl":"10.4084/MJHID.2024.021","url":null,"abstract":"<p><strong>Background: </strong>Erythrocytosis is a relatively common condition; however, a large proportion of these patients (70%) remain without a clear etiologic explanation.</p><p><strong>Methods: </strong>We set up a targeted NGS panel for patients with erythrocytosis, and 118 sporadic patients with idiopathic erythrocytosis were studied.</p><p><strong>Results: </strong>In 40 (34%) patients, no variant was found, while in 78 (66%), we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered <i>HFE</i> gene was observed in 51 cases (57.1%), <i>EGLN1</i> in 18 (22.6%) and <i>EPAS1</i>, <i>EPOR</i>, <i>JAK2</i>, and <i>TFR2</i> variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes.</p><p><strong>Conclusions: </strong>Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. An NGS panel including more candidate genes should reduce the number of cases diagnosed as \"idiopathic\" erythrocytosis in which a cause cannot yet be identified. It is known that <i>HFE</i> variants are common in idiopathic erythrocytosis. <i>TFR2</i> alterations support the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often multigenic.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024021"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NG2 Molecule Expression in Acute Lymphoblastic Leukemia B Cells: A Flow-Cytometric Marker for the Rapid Identification of KMT2A Gene Rearrangements. 急性淋巴细胞白血病 B 细胞中 NG2 分子的表达:用于快速鉴定 KMT2A 基因重排的流式细胞标记。
IF 3.2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-03-01 eCollection Date: 2024-01-01 DOI: 10.4084/MJHID.2024.018
Maria Laura Bisegna, Nadia Peragine, Loredana Elia, Mabel Matarazzo, Maria Laura Milani, Stefania Intoppa, Mariangela Di Trani, Francesco Malfona, Maurizio Martelli, Maria Stefania De Propris
{"title":"NG2 Molecule Expression in Acute Lymphoblastic Leukemia B Cells: A Flow-Cytometric Marker for the Rapid Identification of <i>KMT2A</i> Gene Rearrangements.","authors":"Maria Laura Bisegna, Nadia Peragine, Loredana Elia, Mabel Matarazzo, Maria Laura Milani, Stefania Intoppa, Mariangela Di Trani, Francesco Malfona, Maurizio Martelli, Maria Stefania De Propris","doi":"10.4084/MJHID.2024.018","DOIUrl":"10.4084/MJHID.2024.018","url":null,"abstract":"<p><strong>Background: </strong>B-lineage acute lymphoblastic leukemias (B-ALL) harboring rearrangements of the histone lysine [K]-Methyltransferase 2A (<i>KMT2A</i>) gene on chromosome 11q23 (<i>KMT2A-r</i>) represent a category with dismal prognosis. The prompt identification of these cases represents an urgent clinical need. Considering the correlation between rat neuron glial-antigen 2 (NG2) chondroitin-sulfate-proteoglycan molecule expression and <i>KMT2A-r</i>, we aimed to identify an optimized cytofluorimetric diagnostic panel to predict the presence of <i>KMT2A-r</i>.</p><p><strong>Materials and methods: </strong>We evaluated 88 NG2+ B-ALL cases identified with an NG2 positivity threshold >10% from a cohort of 1382 newly diagnosed B-ALLs referred to the Division of Hematology of 'Sapienza' University of Rome.</p><p><strong>Results: </strong>Eighty-five of 88 (96.6%) NG2+ B-ALLs harbored <i>KMT2A-r</i> and were mainly pro-B ALL (77/85; 91%). Only 2 B-ALLs with <i>KMT2A-r</i> showed NG2 expression below 10%, probably due to the steroid therapy administered prior to cytofluorimetric analysis.Compared to <i>KMT2A-r-</i>cases, <i>KMT2A r+</i> B-ALLs showed a higher blast percentage, significantly higher mean fluorescence intensity (MFI) of CD45, CD38, and CD58, and significantly lower MFI of CD34, CD22, TdT, and CD123.The study confirmed differences in CD45, CD34, CD22, and TdT MFI within the same immunologic EGIL group (European Group for the immunological classification of leukemias), indicating no influence of the B-ALLs EGIL subtype on the <i>KMT2A-r+</i> B-ALLs immunophenotype.</p><p><strong>Conclusions: </strong>Our data demonstrate the association between NG2 and <i>KMT2A-r</i> in B-ALLs identify a distinctive immunophenotypic pattern, useful for rapid identification in diagnostic routines of these subtypes of B-ALLs with a poor prognosis that benefits from a specific therapeutic approach.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"16 1","pages":"e2024018"},"PeriodicalIF":3.2,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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