Annals of Hematology最新文献

{"title":"Clinical characteristics and prognostic factors in patients with fever of unknown origin who developed secondary haemophagocytic lymphohistiocytosis.","authors":"Zhe Zhou, Guanmin Yuan, Yang Li, Haocheng Zhang, Shenglei Yu, Lingyun Shao, Jingwen Ai, Wenhong Zhang","doi":"10.1007/s00277-024-06174-0","DOIUrl":"https://doi.org/10.1007/s00277-024-06174-0","url":null,"abstract":"<p><strong>Background: </strong>Patients with fever of unknown origin (FUO) can sometimes be accompanied by haemophagocytic lymphohistiocytosis (HLH), a life-threatening disease. The prognostic model and specific markers for the early prognosis and the optimized treatment regimen are of considerable research interest.</p><p><strong>Results: </strong>A total of 135 FUO/HLH patients were enrolled and classified according to the 60-day outcomes following diagnosis. 79 patients (including 5 patients lost in follow-up) enrolled from 2007 to 2015 served as the derivation cohort, and 56 patients from 2016 to 2023 served as the validation cohort. In the derivation cohort, 27 patients (27/74, 36.5%) survived within 60 days and multivariate analyses showed that age > 67 years (P = 0.003), baseline PLT < 42 × 10^9/L (P = 0.012) and LDH > 1505 U/L (P = 0.002) were associated with a higher mortality rate in HLH patients. The external validation proved the reliability of the prediction model. In derivation cohort, the median alteration of PLT (△PLT) were + 78 × 10^9/L and - 17 × 10^9/L in the survival and non-survival groups, respectively (P < 0.001). The median △LDH was - 197.5U/L in the survival group, while in the non-survival group was + 119U/L (P < 0.001).</p><p><strong>Conclusions: </strong>Age, baseline LDH and PLT levels may predict early mortality in secondary HLH patients and identify patients in critical conditions. △LDH and △PLT levels were of high value to monitor the efficacy of therapeutic regimen and the disease progression in HLH patients.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venetoclax and hypomethylating agents versus tagraxofusp in older patients with blastic plasmacytoid dendritic cell neoplasm.","authors":"Benjamin J Lee","doi":"10.1007/s00277-025-06221-4","DOIUrl":"https://doi.org/10.1007/s00277-025-06221-4","url":null,"abstract":"<p><p>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a highly aggressive and rare hematologic malignancy characterized by poor response to multiagent chemotherapy and dismal survival outcomes of 8-16 months. Tagraxofusp, the first-in-class CD123-directed antineoplastic agent, has emerged as a highly effective therapy and is the only FDA approved drug for BPDCN. Nonetheless, significant treatment-related toxicities with tagraxofusp such as hepatotoxicity and capillary leak syndrome are unfortunately not uncommon and can be prohibitive for older or unfit patients. The success of venetoclax (VEN) with a hypomethylating agent (HMA) has recently been described in the literature however, clinical outcomes are limited to case reports and small case series. To confirm these findings, we performed a multicenter, retrospective cohort study utilizing the TriNetX Networks database to compare survival outcomes between BPDCN patients (≥60 years-of-age) who received VEN + HMA versus tagraxofusp. In total, 32 and 39 patients received VEN + HMA and tagraxofusp, respectively, between February 1, 2019 and September 1, 2024. Median follow-up time was 7.4 and 9.3 months in the VEN + HMA and tagraxofusp cohorts, respectively. Overall survival (OS) between VEN + HMA and tagraxofusp-treated patients was comparable at 12-months (41.2% vs. 53%; HR 1.15; 95% CI, 0.53-2.48; P = 0.73). In a subgroup analysis of older adult patients (≥75 years-of-age), OS at 12-months (38.1% vs. 56.5%; HR 1.20; 95% CI, 0.47-3.04; P = 0.71) was not significantly different. In conclusion, this large-scale, retrospective database analysis suggests that VEN + HMA is an effective therapeutic alternative to tagraxofusp in older patients for the management of BPDCN. Future studies are needed to prospectively validate these findings.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polatuzumab vedotin and bendamustine (Pola-B) was effective for refractory CD20-negative double-expressor lymphoma.","authors":"Midori Ogasawara, So Okubo, Kohei Shinmura, Hitomi Nakayama, Aki Sakurai, Chisako Ito, Yoshinobu Aisa, Tomonori Nakazato","doi":"10.1007/s00277-025-06187-3","DOIUrl":"https://doi.org/10.1007/s00277-025-06187-3","url":null,"abstract":"","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare case of pure red cell aplasia secondary to smoldering multiple myeloma successfully treated with daratumumab - case report and review of the literature.","authors":"Malak Alharbi, Sawyer Bawek, Ian Lund, Sean T Glenn, Steven Green, Hamza Hassan, You-Wen Qian, Jens Hillengass","doi":"10.1007/s00277-025-06218-z","DOIUrl":"https://doi.org/10.1007/s00277-025-06218-z","url":null,"abstract":"<p><p>Pure red cell aplasia (PRCA) is a rare hematological disorder characterized by erythroid hypoplasia and maturation arrest in the bone marrow. We present a case of acquired PRCA secondary to smoldering multiple myeloma (SMM), initially presenting as severe anemia requiring multiple blood transfusions. This case highlights the diagnostic dilemma at presentation as well as the therapeutic challenges in treating PRCA secondary to SMM. Here we discuss the appropriate workup and identify a potential option for managing these patients with subcutaenous daratumumab.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143447852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma free hemoglobin is associated with LDH, AST, total bilirubin, reticulocyte count, and the hemolysis score in patients with sickle cell anemia.","authors":"Angela Liu, Charleen Jacobs-McFarlane, Paola Sebastiani, Jeffrey Glassberg, Sarah McCuskee, Susanna Curtis","doi":"10.1007/s00277-025-06253-w","DOIUrl":"10.1007/s00277-025-06253-w","url":null,"abstract":"<p><p>Plasma free hemoglobin (PFH) is a direct biomarker for hemolysis that has been associated with clinical complications such as pulmonary hypertension and death in patients with sickle cell disease (SCD). We sought to characterize the relationship between PFH and more clinically available hemolytic markers including lactate dehydrogenase (LDH), aspartate aminotransferase (AST), bilirubin, reticulocyte percentage and to derive a composite hemolysis score derived from principal component analysis (PCA) of these biomarkers. In 68 adult patients (median age 31 years old, IQR 25-39) with HbSS or HbSβ⁰-thalassemia enrolled in the IMPROVE II study, median PFH was elevated at 21.9 mg/dL (IQR 9.9-44.9 mg/dL) at steady state. Using Pearson correlation analysis, PFH had a stronger relationship to LDH (R = 0.699), AST (R = 0.587), and total bilirubin (R = 0.475), compared to reticulocyte count (R = 0.316). The hemolysis score was significantly associated with PFH (R = 0.677). When compared with other laboratory measures, PFH correlated with hemoglobin (R= -0.275) and HbS (R = 0.277), but did not correlate with white blood cell count (WBC) or HbF. The hemolysis score was significantly associated with WBC (R = 0.307), hemoglobin (R = -0.393), HbF (R=- 0.424), and HbS (R = 0.423). This study confirms that the conventional hemolytic biomarkers LDH, AST, bilirubin, and reticulocyte percentage correlate with PFH. Additionally, the hemolysis score is a valid tool to measure hemolysis and that it may be a marker of global hemolysis as opposed to PFH, which quantifies intravascular hemolysis. Further studies will be needed to elucidate the role of PFH and intravascular hemolysis in the development of clinical complications of sickle cell disease. Statements and Funding Declarations: The research leading to these results received funding from the National Heart, Lung, and Blood Institute (NHLBI) R01 HL142671 Grant under J.G. J.G. has also served as a consultant for CSL Behring, Novartis, and Novo Nordisk synteract DSMB and is supported by NHLBI RO1HL159116, R01 HL142671, R01 ES030717, UG1 HL138645, UH3 HL143192, U01HL167036, and the Doris Duke Charitable Foundation Advancing Cures grant. S.C. has served as a consultant for Pfizer and is supported by the NHLBI 5K23HL151884 grant. A.L. is supported by the NHLBI 5T32HL129974-05. C.J.M is supported by the NHLBI 5T32HL129974-05. P.S., and S.M. declare no conflicts and/or funding.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143447848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thromboembolism in adult patients with acute promyelocytic leukemia: clinical characteristics, risk factors, and a predictive nomogram","authors":"Lixia Hao,&nbsp;Yifan Yao,&nbsp;Linhua Yang","doi":"10.1007/s00277-025-06251-y","DOIUrl":"10.1007/s00277-025-06251-y","url":null,"abstract":"<div><p>Acute promyelocytic leukemia (APL) is typically associated with bleeding, whereas thromboembolism (TE) is a less common cause of early death (ED) and frequently underestimated complication. To investigate the clinical characteristics and predictive risk factors for TE, we conducted this retrospective study. Our study included 306 patients diagnosed with APL at the Second Hospital of Shanxi Medical University between May 2012 and May 2023. Among them, 16(5.2%) patients (11 males and 5 females, with a median age of 58 years) experienced TE, including 13 cases of arterial TE (10 cerebral infarctions and three myocardial infarctions), one case of combined arterial and venous TE, and two cases of venous TE. Multivariate logistic regression analysis revealed age (OR 1.08, 95% CI 1.03–1.13, <i>p</i> = 0.001), smoking (3.26, 1.01–10.49, <i>p</i> = 0.048), alkaline phosphatase (ALP) &gt; 125U/L (10.8, 2.26–51.46, <i>p</i> = 0.021), and serum creatinine (SCr) &gt; 62µmol/L (7.09, 1.35–37.35, <i>p</i> = 0.003) as independent risk factors for TE in newly diagnosed APL patients. A nomogram incorporating the four aforementioned predictive factors demonstrated high accuracy and clinical applicability. With a median follow-up of 6.6 years (range: 0.6–11.8 years), the overall survival (OS) rate for all patients was 86.2%. When excluding patients who succumbed to ED, the OS rate increased to 96.2%. Importantly, there was no statistically significant difference in OS rates between non-ED patients with and without TE (<i>p</i> = 0.405). Our findings underscore that age, smoking, ALP, and SCr are four independent risk factors for TE in APL. Furthermore, TE primarily affects early survival but not OS rates in APL patients.</p></div>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":"104 2","pages":"973 - 983"},"PeriodicalIF":3.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s00277-025-06251-y.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of survival in acute myeloid leukemia patients by extracellular to intracellular water ratio and sarcopenia: development and validation of a novel nomogram","authors":"Yiran Fang,&nbsp;Miaomiao Zhao,&nbsp;Ting Luo,&nbsp;Jialin Cui,&nbsp;Wenjie Liu,&nbsp;Ming Hong,&nbsp;Qian Sun,&nbsp;Sixuan Qian","doi":"10.1007/s00277-025-06248-7","DOIUrl":"10.1007/s00277-025-06248-7","url":null,"abstract":"<div><p>Acute myeloid leukemia (AML) commonly affects the elderly with a poor prognosis. Body water composition analysis provides a new perspective for biomedical research. This study aims to develop and validate a simple nomogram for predicting overall survival (OS) in AML survivors. A total of 291patients were enrolled and randomly divided into a training cohort and an internal validation cohort. The median duration of follow-up was 32.2 months.The LASSO regression was used to screen predictors of survival in the training cohort, and the multivariate Cox model was used to establish a nomogram. The discrimination and calibration of the nomogram were evaluated using the C-index, area under the time-dependent receiver operating characteristic curve (time-dependent AUC), and calibration plots. The net benefits of the nomogram at different threshold probabilities were quantified. Five predictors of AML survival were identified: Age, Extracellular water/Intracellular water (ECW/ICW) ratio, European Leukemia Net Risk, Sarcopenia, and WBC. The nomogram showed good performance in both the training cohort (C-index 0.755, 95% CI 0.728–0.782) and the internal validation cohort (C-index 0.773, 95% CI 0.729 to 0.817). The AUC values for the training cohort were 0.866, 0.849, 0.818, and 0.779 at 12, 24, 36, and 48 months, respectively; the AUC values for the internal validation cohort were 0.799, 0.779, 0.797, and 0.786 at 12, 24, 36, and 48 months, respectively. The calibration curves of the nomogram showed acceptable consistency, and the decision curve analysis indicated higher net benefit in clinical practice. In this study, we developed and validated an easily applicable model to predict OS in AML patients.</p></div>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":"104 2","pages":"985 - 996"},"PeriodicalIF":3.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s00277-025-06248-7.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number","authors":"Marwa Ammar,&nbsp;Sana Kmiha,&nbsp;Marwa Maalej,&nbsp;Rahma Felhi,&nbsp;Marwa Kharrat,&nbsp;Olfa Alila-Fersi,&nbsp;Jihen Chouchen,&nbsp;Ines Maaloul,&nbsp;Emna Mkaouar-Rebai,&nbsp;Thouraya Kammoun,&nbsp;Abdelaziz Tlili,&nbsp;Faiza Fakhfakh","doi":"10.1007/s00277-025-06259-4","DOIUrl":"10.1007/s00277-025-06259-4","url":null,"abstract":"<div><p>Congenital sideroblastic anemia (CSA) is a rare genetic disorder caused by defects on heme biosynthesis and mitochondrial energy production. This disease is characterized by the presence of ring sideroblasts in the bone marrow caused by excessive iron accumulation in mitochondria of erythroblasts and by anemia of varying severity. In addition to its clinical variability, CSA is also characterized by genetic heterogeneity which required next-generation sequencing technologies to identify responsible gene. In the present study, whole-exome sequencing followed by Sanger sequencing were performed on a consanguineous family including two patients with congenital sideroblastic anemia. Mitochondrial DNA deletion and copy number were tested respectively by long PCR and QPCR. Subsequent bioinformatic investigations were performed using several programs. WES and Sanger sequencing results revealed a novel pathogenic variant c.579-580insT (p.N194X) in the <i>PUS1</i> gene. Several bioinformatic tools supported that this variant was disease-causing. This variation leads to an incomplete catalytic site which will be probably non-functional and could disturb heme biosynthesis. In addition, no mtDNA deletion was detected in the two patients whereas mtDNA quantification revealed a decrease of mtDNA copy number in P2 and its increasing in P1. The increase in mtDNA copy number, which is most likely connected to a compensatory mechanism, may be the cause of the moderate phenotypic severity observed in P1 with the same p.N194X variant with P2. In conclusion, we identified a novel truncated pathogenic variant in <i>PUS1</i> gene in two siblings of consanguineous family with intrafamilial phenotypic variability related to mtDNA copy number.</p></div>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":"104 2","pages":"943 - 952"},"PeriodicalIF":3.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s00277-025-06259-4.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world evidence of Carfilzomib, Lenalidomide and Dexamethasone (KRD) Scheme in patients with relapsed / refractory multiple myeloma","authors":"Antoni Garcia-Guiñon,&nbsp;Paola Andrea Charry,&nbsp;María Jimenez,&nbsp;Josep Sarra,&nbsp;Izarbe Delgado,&nbsp;Laura Segura de la Torre,&nbsp;Marta Santaliestra,&nbsp;Marta Garcia-Pintos,&nbsp;Yolanda Gonzalez,&nbsp;Alicia Senin,&nbsp;Cristina Motlló,&nbsp;Eugènia Abella,&nbsp;Elena Cabezudo,&nbsp;Miquel Granell,&nbsp;Esther Sancho,&nbsp;María José Herranz,&nbsp;Yasmina Seres,&nbsp;Mercedes Gironella,&nbsp;Juan Alfons Soler,&nbsp;Josep Maria Marti-Tutusaus,&nbsp;Ran Ben Azaiz,&nbsp;Carlos Fernandez de Larrea","doi":"10.1007/s00277-025-06240-1","DOIUrl":"10.1007/s00277-025-06240-1","url":null,"abstract":"<div><p>Carfilzomib, lenalidomide and dexamethasone (KRd) is still a widely used treatment option for patients with relapsed / refractory multiple myeloma (RRMM). However, there is limited real-world evidence. Here we evaluated the efficacy and safety of KRd in patients with RRMM treated following the standard clinical practice of the hospitals in the Catalan region. This was a retrospective, observational study. The objective response rate (ORR) according to IMWG criteria was the primary endpoint. Secondary endpoints included progression-free survival (PFS) and overall survival (OS). The study planned to include at least 100–150 patients. In total 194 patients were included. Median age was 64 years (range: 40–88) and 56% were male. All patients had received bortezomib. Additionally, 89 patients (46%) had received thalidomide and 29 (15%) lenalidomide. The ORR was 73% (95% CI: 66–79), with 72 patients (37%) having ≥ CR. The ORR was influenced by ISS score, number of previous treatments and exposure to lenalidomide. The median PFS was 26 months and 2-years OS rate 70%. The ISS stage and LDH levels were independent prognostic factors of survival. In conclusion, the KRd scheme led to a good effectiveness comparable safety profile to the phase III clinical trial in patients with RRMM.</p></div>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":"104 2","pages":"1177 - 1186"},"PeriodicalIF":3.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s00277-025-06240-1.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143424695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overview of 1q abnormalities in multiple myeloma: scientific opinions from Italian experts.","authors":"Mattia D'Agostino, Marina Martello, Lorenzo De Paoli, Silvia Mangiacavalli, Daniele Derudas, Francesca Fazio, Anna Furlan, Carmine Liberatore, Giuseppe Mele, Roberto Mina, Roberto Ria, Elena Zamagni","doi":"10.1007/s00277-025-06212-5","DOIUrl":"https://doi.org/10.1007/s00277-025-06212-5","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a haematological malignancy characterised by high genomic heterogeneity. One of the most common cytogenic abnormalities in MM is the gain of genetic material at the long arm (q) of chromosome 1 (+ 1q). While many mechanisms of resistance have been associated with + 1q alterations (e.g. CD38 downregulation, impairment of complement-dependent cytotoxicity, or induction of immunosuppression), the precise genetic or pathogenetic factors responsible for these alterations are still being investigated. Although interphase fluorescence in situ hybridisation (iFISH) is the gold standard for the detection of + 1q abnormalities used by the majority of diagnostic laboratories worldwide, there are no universally recognised cut-offs for + 1q positivity or a threshold for clinical meaningfulness. Because iFISH alone is insufficient to elucidate the extent of + 1q and other cytogenetic abnormalities in MM, sequencing-based methods could be adopted. The second revision of the international staging system for MM recently recognised + 1q as a high-risk feature. There is increasing evidence that + 1q has a prognostic value and influences the duration of remission, suggesting that patients with MM and + 1q may benefit from tailored therapy. This review comprehensively summarises the most recent biological evidence and clinical data on + 1q abnormalities in MM. However, given the heterogeneous data available, it remains difficult to draw firm conclusions. In clinical practice, +1q alterations should be evaluated along with other cytogenetic abnormalities and other biological and clinical characteristics of the disease. Ongoing and future studies will help the full understanding of the role of + 1q in MM.</p>","PeriodicalId":8068,"journal":{"name":"Annals of Hematology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}