Kerrie Sweeney, Aaron Niblock, Diana Greenfield, John Snowden
{"title":"Immediate improvement in patient care: Auditing adherence to the British Society for Haematology guidelines on screening and management of the long-term consequences of multiple myeloma and treatment","authors":"Kerrie Sweeney, Aaron Niblock, Diana Greenfield, John Snowden","doi":"10.1002/jha2.999","DOIUrl":"10.1002/jha2.999","url":null,"abstract":"<p>Advances in myeloma have resulted in improved prognosis for patients. However complications of the disease and treatment, pose a risk of specific long-term consequences. An audit tool was adapted to assess adherence to the British Society for Haematology guidelines for screening and management of long-term myeloma consequences. Thereafter a screening checklist was developed to prompt the implementation of guideline recommendations, followed by a re-audit evaluating the effectiveness of the checklist.</p><p>Good baseline practice was identified relating to vaccinations, herpes prophylaxis, dental assessment, bisphosphonates, calcium/ vitamin D supplementation and holistic needs assessments. However gaps in practice included monitoring of lipids, HBA1C, NT-pro-BNP/ BNP, BMI, calcium/ vitamin D and parathyroid hormone in kidney disease, endocrine screening and geriatric assessments. Re-audit demonstrated that geriatric assessment remains a gap in practice, however other standards now scored between 80 to 100% compliance, highlighting the benefits of a screening checklist, to increase adherence to recommendations.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1359-1362"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association between microenvironment-related genes and prognosis of primary central nervous system lymphoma","authors":"Keiichiro Hattori, Kenichi Makishima, Sakurako Suma, Yoshiaki Abe, Yasuhito Suehara, Tatsuhiro Sakamoto, Naoki Kurita, Ryota Ishii, Ryota Matsuoka, Masahide Matsuda, Takao Tsurubuchi, Ryo Nishikawa, Shota Tanaka, Akitake Mukasa, Yoshitaka Narita, Koichi Ichimura, Motoo Nagane, Shingo Takano, Bryan J. Mathis, Eiichi Ishikawa, Daisuke Matsubara, Shigeru Chiba, Mamiko Sakata-Yanagimoto","doi":"10.1002/jha2.1046","DOIUrl":"10.1002/jha2.1046","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary central nervous system lymphoma (PCNSL) is a rare lymphoid malignancy. Systemic profiling of the PCNSL tumor microenvironment (TME) was previously conducted through gene expression analysis. We investigated the prognostic impact of TME on survival to establish novel prognostic biomarkers in PCNSL patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed expression levels of 770 neuroinflammation-related (NFR) genes via NanoString nCounter technology in tumor samples from 30 PCNSL patients. Genes related to the “recurrence group (RG)” or “non-recurrence group (NRG)” were identified and validated using whole transcriptomic analysis of an independent PCNSL cohort (<i>n</i> = 30).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-five of 770 NFR genes were highly expressed in the RG (3-year overall survival (OS, 22.2%), compared with the NRG group (3-year OS 66.7%). Signatures related to glial cells were enriched in the RG-associated gene set. Multivariate analysis revealed that high expressions of <i>TUBB4A</i> (<i>p</i> = 0.028, HR: 3.88), <i>S100B</i> (<i>p</i> = 0.046, HR: 3.093), and <i>SLC6A1</i> (<i>p</i> = 0.034, HR: 3.765) were significantly related to death. Expression levels of these three genes were also significantly associated with poor OS in the validation cohort. Immunohistochemical staining against TUBB4A, S100B, and proteins specific to glial cells (GFAP, OLIG2, and CD68) revealed significantly higher positivity in RG glial cells.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These data suggest that TME-related genes play a crucial role in the pathogenesis of PCNSL, complementing the well-known involvement of the NF-kB signaling pathway. TME targeting, especially glial cell-specific proteins, may thus open new and complementary avenues of therapy for all stages of PCNSL.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1201-1214"},"PeriodicalIF":0.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joachim Baech, Tarec Christoffer El-Galaly, Joshua P. Entrop, Ingrid Glimelius, Daniel Molin, Sissel Johanne Godtfredsen, Michael J. Crowther, Karin E. Smedby, Sandra Eloranta, Caroline E. Dietrich
{"title":"Congestive heart failure after anthracycline-containing treatment for Hodgkin lymphoma: A Swedish matched cohort study","authors":"Joachim Baech, Tarec Christoffer El-Galaly, Joshua P. Entrop, Ingrid Glimelius, Daniel Molin, Sissel Johanne Godtfredsen, Michael J. Crowther, Karin E. Smedby, Sandra Eloranta, Caroline E. Dietrich","doi":"10.1002/jha2.1048","DOIUrl":"10.1002/jha2.1048","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Congestive heart failure (CHF) is a known complication after anthracyclines and radiotherapy for classical Hodgkin lymphoma (cHL). Contemporary cHL treatment may be associated with less risk because radiotherapy use and techniques have changed substantially over time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, Swedish cHL patients diagnosed in 2000–2018, and treated with adriamycin [doxorubicin], bleomycin, vinblastine, and dacarbazine (ABVD) or bleomycin, etoposide, Adriamycin [doxorubicin], cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPP), were matched 1:10 to the general population on birth year and sex to investigate relative rates and cumulative risks of CHF.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 1994 cHL patients were included, with a median age of 34 years. The median follow-up was 8.1 years. The CHF rate was higher for patients versus comparators (adjusted hazard ratio [HR] = 3.02, 95% confidence interval [CI]: 2.26–4.02). Patients treated with ≤200 mg/m<sup>2</sup> of anthracyclines had HR of 2.89 (95% CI: 1.51–3.47) versus 3.91 (95% CI: 2.72–5.60) for >200 mg/m<sup>2</sup>. Treatment with ABVD was associated with a significantly higher CHF rate (adjusted HR = 3.25, 95% CI: 2.31–4.23), while BEACOPP was not (adjusted HR = 1.95, 95% CI: 0.91–4.16). The increase in relative rates translated to the absolute scale, with an increased risk persisting up to 18 years for low cumulative doses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings highlight that cHL survivors still face a substantial excess risk of CHF in the modern treatment era and that focus on cardiovascular health remains relevant.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1190-1200"},"PeriodicalIF":0.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"New insights into the mechanisms of red blood cell enucleation: From basics to clinical applications","authors":"Qianli Zhuo, Zhaojun Zhang, Xiangdong Fang","doi":"10.1002/jha2.1051","DOIUrl":"10.1002/jha2.1051","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Red blood cell (RBC) enucleation is a crucial step in the process of erythropoiesis. By removing the nucleus, RBCs gain greater flexibility, enabling them to traverse narrow capillaries with ease, thereby enhancing the efficiency of oxygen and carbon dioxide transport. This transformation underscores the intricate balance between cellular structure and function essential for maintaining homeostasis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Topic</h3>\u0000 \u0000 <p>This review delves into the multifaceted enucleation process, outlining its complex steps that encompass protein sorting, vesicle trafficking, cytoskeletal remodeling, and apoptosis regulation, while also exploring the potential of enhancing the enucleation rate of RBCs in vitro. We emphasize the intricate regulation of this process, which is orchestrated by multiple factors. This includes transcription factors that meticulously guide protein synthesis and sorting through the modulation of gene expression, as well as non-coding RNAs that play a pivotal role in post-transcriptional regulation during various stages of RBC enucleation. Additionally, macrophages participate in the enucleation process by engulfing and clearing the extruded nuclei, further ensuring the proper development of RBCs. Although many studies have deeply explored the molecular mechanisms of enucleation, the roles of apoptosis and anti-apoptotic processes in RBC enucleation remain incompletely understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Implication</h3>\u0000 \u0000 <p>In this review, we aim to comprehensively summarize the RBC enucleation process and explore the progress made in ex vivo RBC generation. In the future, a deeper understanding of the enucleation process could provide significant benefits to patients suffering from anemia and other related conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1301-1311"},"PeriodicalIF":0.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giulia Freddi, Enea Parimbelli, Federico Vai, Silvana Quaglini, Valeria Bozzi, Serena Barozzi, Fausta Beneventi, Irene De Maggio, Chiara Cavagnoli, Antonio Di Sabatino, Patrizia Noris, Federica Melazzini
{"title":"Isolated thrombocytopenia in pregnancy: A monocentric retrospective study of 63 pregnancies in 59 women","authors":"Giulia Freddi, Enea Parimbelli, Federico Vai, Silvana Quaglini, Valeria Bozzi, Serena Barozzi, Fausta Beneventi, Irene De Maggio, Chiara Cavagnoli, Antonio Di Sabatino, Patrizia Noris, Federica Melazzini","doi":"10.1002/jha2.957","DOIUrl":"10.1002/jha2.957","url":null,"abstract":"<p>Thrombocytopenia during pregnancy is often thought to be associated with severe bleeding manifestations. Three are the main disorders associated with this condition: gestational thrombocytopenia (GT), immune thrombocytopenia (ITP), and inherited thrombocytopenias (ITs). Reaching the correct diagnosis of this condition has relevant therapeutic and outcome implications. We performed a retrospective, observational, monocentric study enrolling 59 consecutive women with isolated thrombocytopenia, attended to our referral center in the last 3 years. Together with personal and family history, platelet (PLT) count trend and mean platelet volume (MPV) in pregnancy are helpful for the diagnosis, with the highest PLT count in GT and lowest in ITs, with different timing of count decrease. MPV is significantly increased in both ITs and ITP. Misdiagnosis with ITP was responsible for unnecessary and unsuccessful therapy in some GT or ITs pregnant women, determining relevant side effects. Excluding inherited platelet function disorders (IPFDs), the bleeding risk for mother with thrombocytopenia and their newborns is similar to the general population. Vaginal delivery is associated with a lower risk of bleeding than cesarean section and therefore is preferable whenever obstetrical–gynecological conditions permit.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1125-1132"},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to: Circulating tumor DNA for monitoring classic Hodgkin lymphoma patients: Correlation with FDG-PET/CT","authors":"","doi":"10.1002/jha2.1044","DOIUrl":"10.1002/jha2.1044","url":null,"abstract":"<p>EJHaem. 2024 Feb; 5(1): 70–75.</p><p>The authors regret that the Acknowledgments section contains a mistake in the reference to the funding by the “Instituto de Salud Carlos III (ISCIII)” in the published article.</p><p>The correct reference is “This work was supported by Instituto de Salud Carlos III (ISCIII), projects PI19/00083 and PI22/00556 (co-funded by the European Union)”.</p><p>The authors would like to apologize for any inconvenience caused.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1373"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fluctuation of physical function during chimeric antigen receptor T-cell therapy during rehabilitation intervention: Real-world data and risk factor analyses","authors":"Ryota Hamada, Yasuyuki Arai, Toshio Kitawaki, Naokazu Nakamura, Masanobu Murao, Michiko Matsushita, Junsuke Miyasaka, Tsugumi Asano, Tomoyasu Jo, Momoko Nishikori, Junya Kanda, Chisaki Mizumoto, Kouhei Yamashita, Ryosuke Ikeguchi, Akifumi Takaori-Kondo","doi":"10.1002/jha2.1043","DOIUrl":"10.1002/jha2.1043","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Patients undergoing chimeric antigen receptor (CAR) T-cell therapy face prolonged treatment timelines and are prone to cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) after infusion. Disabilities in physical function and the importance of rehabilitation during CAR-T-cell therapy to maintain physical function have been poorly documented.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We performed a retrospective cohort study to assess changes in exercise tolerance via differences in a 6-min-walking distance (Δ6MWD) and factors influencing it.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 77 patients who underwent rehabilitation during CAR-T-cell therapy were enrolled, and their 6MWD was 450 m (median, range 180–705 m) before and 450.5 m (107.0–735.0 m) 30 days after CAR-T treatment. No significant alteration in Δ6MWD was observed overall (11.0 m, 95% confidence interval, −56.1 to 88.2 m). Multiple regression analyses indicated that age (over vs. under 65 years) revealed no notable differences in Δ6MWD (20 vs. 10 m), while ΔHb (<i>β</i> = 0.24, <i>p</i> = 0.03), moderate/severe CRS (grade 1 with continuous fever or grade ≥2; <i>β</i> = −0.25, <i>p</i> = 0.03), and ICANS (any grade; <i>β</i> = −0.22, <i>p</i> = 0.04) were significantly associated with lower Δ6MWD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This real-world study indicated that CAR-T-cell therapy is less likely to reduce physical function even in older patients if rehabilitation is properly performed, whereas CRS and ICANS can be risk factors to deprive exercise tolerance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1252-1259"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lorenza Torti, Nicolina Ardu, Laura Maffei, Paolo De Fabritiis, Francesco Sorrentino
{"title":"Luspatercept in β-thalassemia: Who and when. Strengths and weaknesses points of a real-world evidence","authors":"Lorenza Torti, Nicolina Ardu, Laura Maffei, Paolo De Fabritiis, Francesco Sorrentino","doi":"10.1002/jha2.1032","DOIUrl":"10.1002/jha2.1032","url":null,"abstract":"<p>The treatment landscape for transfusion-dependent β-thalassemia (TDT) has evolved, with safer transfusion practices and advances in iron overload management.</p><p>Nevertheless, limitations of blood supply, and adverse events related to transfusions and iron chelation, can lead to increased morbidity and reduced quality of life [<span>1</span>].</p><p>Luspatercept (ACE-536) was recently approved for managing anemia in TDT based on data from the BELIEVE trial [<span>2</span>].</p><p>However, management in routine clinical practice is only initial, and clear criteria for treatment prioritization are still lacking.</p><p>Here, we report our real-life experience regarding its use in 10 TDT patients followed from March 2023 to June 2024 (Table 1), presenting predicting factors of quality response and the best timing of starting treatment (Tables 2 and 3).</p><p>ACE-536 was administered subcutaneously every 21 days at a starting dose of 1 mg/Kg, adjusted up to 1.25 mg/Kg in two patients, without changes in iron chelation therapy.</p><p>All our patients were studied by magnetic resonance imaging of the spine and by thrombophilia tests.</p><p>Prior evaluation of BetaHcg in female patients was performed to exclude a concomitant pregnancy. We have strongly recommended, regardless of the kind of sex, the use of effective contraceptive methods, due to the unknown effects on embryogenesis.</p><p>We have ruled out all patients with a previous medical history of thrombotic events.</p><p>Psychological support was provided to all patients.</p><p>We performed B vitamins intravenously administration, with folates and cyanocobalamin to support the increased erythropoiesis process.</p><p>We have reported ACE-536 efficacy in terms of transfusional burden reduction, transfusional interval extended, increase of hemoglobin values preblood transfusion and ferritin values decrease, comparing 12 weeks before and after the first drug administration (Table 2 and Figures 1 and 2).</p><p>Statistical analysis was performed with an independent two-sample <i>t</i>-test, with values of <i>p</i> < 0.05 considered statistically significant.</p><p>Two patients were excluded from the statistical analysis due to short follow-up.</p><p>Two patients in our cohort (B0/alpha −3,7 and with B+/HbE) have won until now their transfusional independence of respectively 20 and 18 weeks, without relevant adverse events (respectively, number 1 and 7 of Table 1).</p><p>The impact of ACE-536 in patients affected by beta-thalassemia intermedia appeared of particular interest, with a better response when compared to thalassemia major in our experience.</p><p>Notably, the magnitude of the effect was influenced by genotype aspects. In our experience, it was higher in patients with non-beta0–beta0 patients as shown by a subanalysis of BELIEVE trial.</p><p>Our data herein reported showed significant advantages in the HbE-beta patients are the same as results presented in the last American Society of ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1354-1358"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lina Han, Prasad Koduru, Miguel Cantu, Franklin Fuda, Weina Chen
{"title":"RUNX1::CBFA2T2 rearranged acute myeloid leukemia transformed from JAK2 V617F mutated primary myelofibrosis","authors":"Lina Han, Prasad Koduru, Miguel Cantu, Franklin Fuda, Weina Chen","doi":"10.1002/jha2.985","DOIUrl":"10.1002/jha2.985","url":null,"abstract":"<p>Acute myeloid leukemia (AML) with <i>RUNX1::CBFA2T2</i> fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from <i>JAK2</i> V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with <i>RUNX1::CBFA2T2</i> resemble those of AML with <i>RUNX1::RUNX1T1</i>, including expression of CD19, cooperative gene alterations in signaling pathway (<i>JAK2</i>), epigenetic/chromatin and cell cycle regulation (<i>TET2</i>, <i>SMC3</i>, and <i>CDKN2A/B</i>), and additional chromosomal abnormalities (trisomies 8 and 15). This case study provides insights into the pathogenesis of this rare subtype of AML.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1330-1334"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rui Bergantim, Catarina Geraldes, Cristina João, Paulo Lúcio, Manuel Neves, Fernanda Trigo, Hugo Pedrosa, Miguel Ventura, Susana Santos, Diogo Ramos
{"title":"The evolving treatment landscape of multiple myeloma in Portugal: A nation-wide retrospective cohort study of real-world clinical practice","authors":"Rui Bergantim, Catarina Geraldes, Cristina João, Paulo Lúcio, Manuel Neves, Fernanda Trigo, Hugo Pedrosa, Miguel Ventura, Susana Santos, Diogo Ramos","doi":"10.1002/jha2.1035","DOIUrl":"10.1002/jha2.1035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To characterize variations in real-world treatment patterns in multiple myeloma (MM) in Portugal over a 5-year period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective cohort multicenter study using secondary data of national hospital drug consumption database from 11 Portuguese public hospitals between 2017 and 2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Number of MM-treated patients increased 53% over 5 years (from 825 to 1266 patients). Constant slight predominance of male patients (55%), 82% over 60 years old (median age, 70 years), and half of newly diagnosed patients were transplant-eligible. The highest growth rate was in second-line treatments, with a sixfold increase in patients in fourth-line or beyond. First-line treatment pattern remained stable both in transplant-eligible (bortezomib, cyclophosphamide and dexamethasone (VCd_, bortezomib, thalidomide and dexamethasone (VTd), and bortezomib, lenalidomide and dexamethasone (VRd)) and noneligible patients (bortezomib, melphalan and prednisolone (VMP), VCd, and lenalidomide, dexamethasone (Rd)). Maintenance therapy increased from 5% to 16%, shifting from thalidomide to lenalidomide. Second and third lines were dominated by daratumumab-based regimens after 5 years. No standard of care in fourth-line treatment. Treatment duration increased in transplant-eligible due to maintenance therapy and in noneligible due to fourth-line treatments. Patients moved from first- to second-line more rapidly over time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>There was an increase in MM patients reaching advanced treatment lines and significant changes in the treatment patterns, driven by access to more effective frontline treatments and longer duration of treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1144-1153"},"PeriodicalIF":0.0,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}