Hekim MV, Ergen ŞA, Elverdi T
… +2 more, Özmen İbiş D, Çolpan Öksüz D
Int J Hematol
· 2026 Jun · PMID 41593423
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PURPOSE: Although Hodgkin and non-Hodgkin lymphoma are chemosensitive, 10-15% of patients develop refractory disease. With the increasing use of intensive chemotherapy, the role of radiotherapy (RT) in salvage settings h...PURPOSE: Although Hodgkin and non-Hodgkin lymphoma are chemosensitive, 10-15% of patients develop refractory disease. With the increasing use of intensive chemotherapy, the role of radiotherapy (RT) in salvage settings has diminished. This study evaluated the efficacy of salvage RT in patients with refractory lymphoma. MATERIALS AND METHODS: Forty-one adults with histologically confirmed Hodgkin or non-Hodgkin lymphoma and either primary refractory or relapsed/refractory disease treated between 2010 and 2022 were retrospectively analyzed. All patients received involved-site RT after systemic therapy. RESULTS: At a median follow-up of 67 months, 85% of patients showed a complete response to salvage RT and 10% showed a partial response. The 5- and 10-year disease-specific survival rates were 90 and 84%. All recurrences occurred within 5 years and outside the RT field. CONCLUSION: Salvage RT achieved high response rates, durable survival, and minimal toxicity, supporting its role as a valuable treatment option in selected patients.
Peripheral T cell lymphomas (PTCLs) are a heterogeneous group of aggressive lymphomas with generally poor outcomes. CHOP or CHOP-like regimens have long been the standard frontline therapy; however, the addition of brent...Peripheral T cell lymphomas (PTCLs) are a heterogeneous group of aggressive lymphomas with generally poor outcomes. CHOP or CHOP-like regimens have long been the standard frontline therapy; however, the addition of brentuximab vedotin has improved overall survival and established a new standard of care for CD30-positive PTCL. Despite this advance, the outcomes of relapsed or refractory (R/R) disease remain dismal. In recent years, multiple novel agents have been developed for the treatment of PTCL, particularly for R/R settings. Molecular profiling has refined disease classifications, identifying subtypes such as nodal T follicular helper (TFH) lymphoma, PTCL-GATA3, and PTCL-TBX21, which differ in their pathogenesis, prognosis, and potential therapeutic vulnerabilities. Epigenetic modulators, including histone deacetylase inhibitors and an EZH1/2 inhibitor, have demonstrated particularly high activity in TFH-derived subtypes, supporting the integration of biomarker-driven patient selection as a path toward precision medicine in PTCL. This review summarizes current insights into the genetic landscape, recent clinical advances in novel agents, and future perspectives on therapeutic stratification, highlighting the need to translate molecular insights into durable clinical benefits for patients with PTCL.
Int J Hematol
· 2026 Jun · PMID 41582285
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PURPOSE: This study investigated the correlation between plasma biomarker levels and post-transplant complications of allo-HSCT in children. The biomarkers analyzed were sST2, REG3α, TNFR1, IL-6, and IL-8. METHODS: From...PURPOSE: This study investigated the correlation between plasma biomarker levels and post-transplant complications of allo-HSCT in children. The biomarkers analyzed were sST2, REG3α, TNFR1, IL-6, and IL-8. METHODS: From January 1, 2019 to October 30, 2024, specimens from 157 patients were collected at aGVHD onset or when aGVHD was clinically presumed to be likely to occur. RESULTS: Patients with aGVHD and intestinal aGVHD had significantly elevated sST2 levels. Patients with grade III/IV aGVHD had significantly higher sST2 and REG3α levels than patients with grade I/II aGVHD. OS and NRM differed significantly between patients with high sST2 and REG3α indexes (sST2 ≥ 124,090 pg/ml and REG3α ≥ 17,176 pg/ml) and those with low sST2 and REG3α indexes (P < 0.05). Univariate logistic regression analysis indicated that aGVHD, SOS, and TA-TMA were correlated with elevated sST2 and REG3α levels. Multivariate logistic regression analysis indicated that grade III/IV aGVHD was significantly associated with elevated sST2 and REG3α levels (each P = 0.003). CONCLUSIONS: Elevated sST2 and REG3α can reflect the occurrence and severity of aGVHD. Acute GVHD, SOS, and TA-TMA can all lead to fluctuations in sST2 and REG3α levels, and warrant further study.
Kishimoto K, Hyodo S, Fukushima K
… +10 more, Irie K, Horikawa S, Uemura S, Kozaki A, Saito A, Ishida T, Mori T, Hasegawa D, Fukushima S, Kosaka Y
Int J Hematol
· 2026 Jun · PMID 41557115
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Although several studies suggest that higher busulfan exposure is associated with neurotoxicity, research on the relevance of pharmacokinetic parameters is limited. The aim of this study was to explore the impact of busu...Although several studies suggest that higher busulfan exposure is associated with neurotoxicity, research on the relevance of pharmacokinetic parameters is limited. The aim of this study was to explore the impact of busulfan area under the concentration-time curve (AUC) on the development of neurological complications in children and adolescents receiving busulfan-containing conditioning regimens. Patients aged 0-20 years who received a busulfan-based regimen at our hospital between June 2017 and May 2024 were analyzed. The primary outcome measure was the incidence of neurological complications within 7 days of starting busulfan. A total of 36 consecutive patients were analyzed. Median busulfan AUC across 96 h (AUC96) was 86.3 (interquartile range 73.6-100.8) mg × h/L. Overall, 13 (36%) patients developed neurological complications, including 2 patients with grade 3 seizures. The AUC96 cut-off value was set at 80.0 mg × h/L (sensitivity 85%, specificity 57%, area under the receiver-operating characteristic curve 0.71). A higher incidence of neurological complications was observed in the AUC96 > 80.0 mg × h/L group than in the AUC96 ≤ 80.0 mg × h/L group (50% vs. 14%, P = 0.033). These results suggest that a higher busulfan AUC96 may be associated with an increased risk of neurological complications.
Kaino A, Sakamoto K, Moriya K
… +7 more, Osone S, Imamura T, Kudo K, Shioda Y, Imashuku S, Morimoto A, Japan Langerhans Cell Histiocytosis Study Group
Int J Hematol
· 2026 Jun · PMID 41553688
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BACKGROUND: Hearing loss is a recognized permanent consequence (PC) of Langerhans cell histiocytosis (LCH). However, its characteristics and association with central nervous system (CNS)-related PCs remain unclear. PROCE...BACKGROUND: Hearing loss is a recognized permanent consequence (PC) of Langerhans cell histiocytosis (LCH). However, its characteristics and association with central nervous system (CNS)-related PCs remain unclear. PROCEDURE: This study retrospectively analyzed the data of 317 pediatric patients with multisystem or multifocal bone LCH enrolled in the Japan LCH Study Group -96 or -02 trial. RESULTS: Hearing loss was identified in nine patients (2.8%), a lower incidence than previously reported. It was significantly associated with ear lesions, but not with craniofacial bone involvement at the time of diagnosis. Detailed information was available for seven patients: Three had sensorineural hearing loss, and four had mixed-type hearing loss without hearing improvement. At the last follow-up, hearing loss was unilateral in six cases and bilateral in one, with severity ranging from moderate (n = 1) to severe (n = 2) and profound (n = 4). CNS-PCs were found in five patients and were significantly associated with hearing loss (p = 0.018). One patient without ear lesions developed progressive sensorineural hearing loss due to neurodegeneration (ND). CONCLUSIONS: Patients with hearing loss should be closely monitored for CNS-PCs, and those with LCH-associated ND should be carefully monitored for the development of sensorineural hearing loss.
TAFRO syndrome is a rare systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. Its pathogenesis remains elusive, and its non-specific...TAFRO syndrome is a rare systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. Its pathogenesis remains elusive, and its non-specific symptoms overlap with idiopathic multicentric Castleman disease, complicating its management. This report discusses two cases of TAFRO syndrome resistant to conventional treatments, including corticosteroids, tocilizumab, and rituximab. Both patients showed significant clinical improvement after treatment with ruxolitinib, a JAK-STAT pathway inhibitor. The first patient was a 55-year-old man who showed clinical improvement with ruxolitinib after the failure of multiple lines of treatment, including corticosteroids, tocilizumab, rituximab, and cyclosporin A. The second was another 55-year-old man who experienced disease relapse 18 months after initial treatment but responded rapidly to ruxolitinib. These cases highlight the potential role of ruxolitinib as a therapeutic option for refractory TAFRO syndrome. In addition, Epstein-Barr virus (EBV) DNA was detected in the serum of the first patient, making this the first report to demonstrate the effectiveness of ruxolitinib in EBV-associated TAFRO syndrome. These findings highlight the need for further studies to confirm the efficacy of ruxolitinib in such cases and elucidate the pathophysiological mechanisms underlying TAFRO syndrome, which could guide future therapeutic strategies.
Izutsu K, Akahane D, Toubai T
… +12 more, Saito T, Mishima Y, Fujisaki T, Nishikori M, Kumode T, Suehiro Y, Ishitsuka K, Patah P, Takahashi A, Månsson BD, Favaro E, Fukuhara N
Int J Hematol
· 2026 May · PMID 41548170
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BACKGROUND: The CD3xCD20 bispecific antibody epcoritamab demonstrated deep, durable responses with manageable safety in relapsed/refractory (R/R) follicular lymphoma (FL) in EPCORE NHL-3 (phase 1/2; NCT04542824). This an...BACKGROUND: The CD3xCD20 bispecific antibody epcoritamab demonstrated deep, durable responses with manageable safety in relapsed/refractory (R/R) follicular lymphoma (FL) in EPCORE NHL-3 (phase 1/2; NCT04542824). This analysis evaluated 3-year follow-up outcomes in Japanese patients. METHODS: Adults with CD20 + FL and ≥ 2 prior lines of therapy (LOTs) received subcutaneous epcoritamab (0.16/0.8-mg step-up doses; 48-mg full doses) until disease progression or death. The primary endpoint was overall response rate (ORR). RESULTS: Twenty-one patients received epcoritamab (median age: 65 years; median prior LOTs: 4; 57.1% double refractory; 57.1% progressed within 24 months of any first-line treatment). At a median follow-up of 35 months, the ORR was 95.2% and the complete response (CR) rate was 76.2%. Median duration of response, duration of CR, progression-free survival, and overall survival were not reached. At 3 years, 66.7% and 93.3% of complete responders remained progression-free and alive, respectively. Minimal residual disease negativity was achieved in 88.9% (16/18) of evaluable patients. Common treatment-emergent adverse events included cytokine release syndrome (90.5%) and injection-site reaction (71.4%), all predominantly grade 1-2 and occurring in early treatment cycles, and none fatal. CONCLUSIONS: Epcoritamab monotherapy provided durable long-term remission with favorable safety in Japanese patients with R/R FL over 3 years of follow-up.
Int J Hematol
· 2026 Apr · PMID 41498998
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Viruses induce approximately 12% of human cancers, including lymphomas. In the case of T/NK cell neoplasms, human T-cell leukemia virus type I (HTLV-1) causes adult T-cell leukemia-lymphoma (ATL), and Epstein-Barr virus...Viruses induce approximately 12% of human cancers, including lymphomas. In the case of T/NK cell neoplasms, human T-cell leukemia virus type I (HTLV-1) causes adult T-cell leukemia-lymphoma (ATL), and Epstein-Barr virus (EBV) is associated with extranodal NK/T-cell lymphoma (ENKTCL) and chronic active Epstein-Barr virus disease (CAEBV). Common mechanisms for lymphoma development have been proposed. Viral genes, such as tax and HTLV-1 bZIP factor (HBZ) of HTLV-1, and latent membrane protein 1 (LMP1) and BamHI A rightward transcript microRNA (miRNA-BART) of EBV, contribute to host immune evasion and modulation of host signaling pathways, resulting in the persistence of viral-infected cells. This viral strategy is closely associated with oncogenesis. Furthermore, the long-term survival of infected cells leads to the accumulation of somatic mutations and aberrant epigenetic alterations. These events eventually lead to ATL, ENKTCL, and the lymphoma-like subset of CAEBV. Interrupting these common oncogenic mechanisms is a promising therapeutic strategy for viral-driven lymphomas with poor prognoses.
Hamed RAT, Alsarraf A, Rajy J
… +9 more, Ashkanani H, Almutairi R, Hamadah A, AlLafi A, Pinto K, Elkady D, Al Yacoub Y, Nanda A, Alshemmari S
Int J Hematol
· 2026 May · PMID 41493721
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BACKGROUND: Cutaneous T-cell lymphoma (CTCL) is a rare malignancy with limited data available from the Middle East. This study evaluated the clinical characteristics, treatment patterns, and outcomes of CTCL patients tre...BACKGROUND: Cutaneous T-cell lymphoma (CTCL) is a rare malignancy with limited data available from the Middle East. This study evaluated the clinical characteristics, treatment patterns, and outcomes of CTCL patients treated in Kuwait. METHODS: This was a retrospective review of all adult patients diagnosed between February 2021 and March 2024. Data included demographics, staging, treatment modalities, and outcomes. Kaplan-Meier analysis was used to evaluate progression-free survival (PFS) and overall survival (OS). RESULTS: The study included 86 patients. The mean age at diagnosis was 44 years (range: 16-80), and 84% of patients presented with early-stage disease (IA-IIA). NB-UVB phototherapy was the most common treatment for early-stage disease, while brentuximab vedotin was frequently used for advanced diseases. Median OS was 30 months in patients with advanced disease and not reached in those with early-stage disease (p = 0.003). Median PFS was 22 months overall, and significantly longer in early-stage than advanced disease (50 vs. 15 months, p = 0.009). Advanced stage, blood involvement, and elevated LDH were significant predictors of worse PFS. CONCLUSION: This study provides the first real-world analysis of CTCL outcomes in Kuwait. The findings underscore the importance of early detection and the role of novel therapies in disease management.
Yokoyama H, Yanada M, Mizuno S
… +16 more, Uchida N, Shingai N, Fukuda T, Tanaka M, Yoshihara S, Nishida T, Sawa M, Nakamae H, Katayama Y, Takada S, Kawakita T, Kanda J, Ichinohe T, Atsuta Y, Yano S, for Adult Acute Myeloid Leukemia Working Group of the Japanese Society for Transplantation and Cellular Therapy
Int J Hematol
· 2026 May · PMID 41493720
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Monosomal karyotype (MK) comprises chromosomal abnormalities defined as either one single autosomal monosomy with structural abnormalities (MK1) or two or more distinct autosomal monosomies (MK2). MK is a predictive fact...Monosomal karyotype (MK) comprises chromosomal abnormalities defined as either one single autosomal monosomy with structural abnormalities (MK1) or two or more distinct autosomal monosomies (MK2). MK is a predictive factor for extremely poor prognosis in patients with acute myeloid leukemia (AML), and not all patients are eligible for allogeneic hematopoietic cell transplantation (HCT). Using registry data from the Japan Society for Transplantation and Cellular Therapy, we retrospectively analyzed 892 AML patients with MK who underwent initial HCT between 2000 and 2017. The median follow-up among surviving patients was 3.1 years (range, 0.1-13.8 years). The 3-year overall survival (OS) rate was 26% for the 284 MK1 patients, which was significantly higher than the 10% observed in the 608 MK2 patients (P < 0.001). Multivariate analysis showed that MK subtype, disease status at time of HCT, patient age at HCT, sex, performance status, and year of HCT significantly affected OS. Notably, MK1 was associated with better OS than MK2 in both patients in complete remission (CR) and non-CR patients. Molecular pathogenesis may be different between MK1 and MK2, and further investigation is required to gain biological insight into the impact of MK subtype on post-HCT outcomes.
Yokota A, Munakata W, Kiguchi T
… +11 more, Ogawa Y, Hino M, Kato K, Chiba M, Kawasaki D, Wasa K, Mikasa T, Takeuchi K, Izutsu K, Suzuki R, Study Group
Int J Hematol
· 2026 May · PMID 41493719
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Tagraxofusp (TAG), a first-in-class CD123-targeted therapy, is a recombinant fusion protein of human interleukin-3 conjugated to a truncated diphtheria toxin payload. Blastic plasmacytoid dendritic cell neoplasm (BPDCN)...Tagraxofusp (TAG), a first-in-class CD123-targeted therapy, is a recombinant fusion protein of human interleukin-3 conjugated to a truncated diphtheria toxin payload. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive orphan hematologic cancer with a poor prognosis, and is derived from plasmacytoid dendritic cells that overexpress interleukin-3 receptor subunit alpha (IL3RA or CD123). This open-label phase I/II study evaluated the efficacy and safety of TAG in 11 Japanese BPDCN patients, of whom seven were treatment-naïve (TN) and four had relapsed/refractory (R/R) disease. In the phase I portion, seven patients (five TN, two R/R) were treated, and no dose-limiting toxicity was observed, with 12 μg/kg/day tolerated. In the phase II portion, four patients (two TN, two R/R) were treated. Among the seven TN BPDCN patients, the rate of complete response (CR) + clinical CR (CRc: CR with minimal residual skin abnormality) was 57.1% (90% confidence interval [CI], 22.5-87.1), and the lower limit of the 90% CI (22.5%) exceeded the pre-specified threshold of 10%. Common adverse events included increased alanine aminotransferase (81.8%) and aspartate aminotransferase (72.7%), hypoalbuminemia, hypokalemia, and capillary leak syndrome (54.5%). The results indicate that TAG was effective and had a manageable safety profile in Japanese BPDCN patients.
Sunami K, Handa H, Ichii M
… +11 more, Ikezoe T, Suzuki K, Yamaguchi Y, Yonekawa T, Endo A, Nakano H, Lewis E, Calleja IG, Manasanch E, Ito S, Kato H
Int J Hematol
· 2026 May · PMID 41493718
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The phase 3 DREAMM-8 (NCT04484623) trial assessed belantamab mafodotin + pomalidomide + dexamethasone (BPd) vs bortezomib + Pd (PVd) in lenalidomide-exposed patients with relapsed/refractory multiple myeloma (RRMM) and ≥...The phase 3 DREAMM-8 (NCT04484623) trial assessed belantamab mafodotin + pomalidomide + dexamethasone (BPd) vs bortezomib + Pd (PVd) in lenalidomide-exposed patients with relapsed/refractory multiple myeloma (RRMM) and ≥ 1 prior therapy. Here, we present findings from Japanese patients (data cutoff: 27-May-24). The primary endpoint was progression-free survival (PFS). Secondary endpoints included overall response rate (ORR), duration of response (DoR), and safety. Overall, 21 patients were randomized 1:1 to BPd (N = 10) and PVd (N = 11). Median follow-up was 13.8 months (range 0.23-26.71). For BPd vs PVd, median PFS was not reached (NR; 95% CI 0.2-NR) vs 14.8 months (95% CI 1.9-NR; HR 0.53; 95% CI 0.1-2.8); ORR was 90% (9/10) vs 73% (8/11), including very good partial response or better in 70% (7/10) vs 36% (4/11); median DoR was NR vs 17.5 months. The safety profile was consistent with the global cohort. Ocular adverse events were more common with BPd vs PVd (90% [9/10] vs 9% [1/11]) and a majority were transient and reversible. While the sample size of this study is small, findings were aligned with the global cohort. BPd showed favorable efficacy compared with PVd, with a manageable safety profile in lenalidomide-exposed Japanese patients with RRMM.
Yamaguchi K, Yamauchi T, Hirakawa S
… +12 more, Nakagaki H, Nishihara H, Shimo M, Sasaki K, Sakoda T, Jinnouchi F, Miyawaki K, Shima T, Kikushige Y, Mori Y, Akashi K, Kato K
Int J Hematol
· 2026 May · PMID 41483380
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Primary mediastinal B-cell lymphoma (PMBCL) is a distinct subtype of large B-cell lymphoma characterized by 9p24.1 copy-number alterations and PD-1-mediated immune evasion. This profile confers high sensitivity to PD-1 i...Primary mediastinal B-cell lymphoma (PMBCL) is a distinct subtype of large B-cell lymphoma characterized by 9p24.1 copy-number alterations and PD-1-mediated immune evasion. This profile confers high sensitivity to PD-1 inhibitors such as pembrolizumab. CD19-directed chimeric antigen receptor (CAR) T-cell therapies have shown benefit in relapsed or refractory (R/R) PMBCL, but their optimal role remains undefined. We retrospectively analyzed 31 patients with R/R B-cell lymphoma treated with lisocabtagene maraleucel (liso-cel), including four with PMBCL who received pembrolizumab prior to CAR-T. All four achieved remission before infusion, and three maintained durable complete responses (≥ 30 months). Toxicities were comparable to those in patients not treated with pembrolizumab, although one pembrolizumab-treated patient experienced fatal neurotoxicity. Favorable hematologic recovery and preserved T-cell counts at leukapheresis suggest that preceding PD-1 blockade did not compromise CAR-T manufacturing and may have enhanced T-cell fitness. These findings suggest that sequential PD-1 blockade followed by liso-cel is clinically feasible and may improve outcomes by leveraging the immune vulnerability of PMBCL. While prior studies have focused on axicabtagene ciloleucel, this report provides the first real-world data supporting the feasibility and potential benefit of this approach with liso-cel. Prospective studies are needed to confirm efficacy, safety, and optimal sequencing.
Zhang T, Yu Y, Fang Y
… +4 more, Xiao J, Liu H, Zhou H, Xu M
Int J Hematol
· 2026 May · PMID 41483379
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Therapy-related myeloid neoplasms (t-MN) are an aggressive and heterogeneous group of myeloid disorders with no established guidelines for frontline treatment. This retrospective study of 53 consecutive t-MN patients at...Therapy-related myeloid neoplasms (t-MN) are an aggressive and heterogeneous group of myeloid disorders with no established guidelines for frontline treatment. This retrospective study of 53 consecutive t-MN patients at our institution evaluated the influence of clinical features, treatment approaches, and prognostic indicators on clinical outcomes of t-MN. The 1-year, 3-year, and 5-year overall survival (OS) rates were 61.0%, 50.0%, and 36.0%, respectively. Multivariate analysis revealed that age ≥ 60 (p = 0.009), TP53 (p = 0.040) and RAS mutations (p = 0.018) were associated with inferior OS. After induction therapy, patients who received a venetoclax-based regimen (venetoclax group) had an overall response rate (ORR) of 96.2%, compared with 63.6% in the chemotherapy group (p = 0.007). The venetoclax group tended to have better OS and DFS than the chemotherapy group (p = 0.052 and p = 0.078). Importantly, ORR rates and OS were higher in some subgroups of the venetoclax group, especially in patients over 60 years old and patients with intermediate/adverse risk. This study demonstrates the feasibility of venetoclax-based combination regimens for the treatment of t-MN and may influence decision-making for frontline therapy.
Matsui H, Takizawa J, Kojima K
… +9 more, Tauchi T, Ikeda C, Aruga Y, Sakamoto H, Takenaka R, Park J, Morita T, Matsushita H, Suzuki R
Int J Hematol
· 2026 May · PMID 41456240
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Measurable residual disease (MRD), defined as the persistence of minimal levels of leukemic cells following therapeutic intervention, serves as a pivotal prognostic biomarker in patients with chronic lymphocytic leukemia...Measurable residual disease (MRD), defined as the persistence of minimal levels of leukemic cells following therapeutic intervention, serves as a pivotal prognostic biomarker in patients with chronic lymphocytic leukemia (CLL). We conducted a multicenter, cross-sectional study to assess MRD in Japanese patients with relapsed or refractory CLL. All patients received venetoclax-based therapy for 24 months. MRD in peripheral blood (PB) and bone marrow was assessed by multicolor flow cytometry using surface markers, including kappa and lambda light chains of surface immunoglobulins. The primary and secondary outcomes were the proportions of patients who achieved undetectable MRD (uMRD, < 10 CLL cells) and low-MRD (< 10 and ≥ 10 CLL cells) after 24 months of venetoclax treatment. From June 2023 to December 2024, 60 patients were enrolled, and 51 were analyzed. The median age was 78 years, and 68.6% were male. Thirty-four of 51 patients (66.7%) achieved uMRD, and 8 (15.7%) achieved low-MRD in PB after at least 24 months of venetoclax treatment. Assessment of MRD in PB by flow cytometry is helpful for evaluating treatment response, informing clinical decision-making, and predicting long-term outcomes in clinical practice. Further analyses are warranted to investigate the use of MRD in treatment decision-making and prognostication.Kindly check the inserted city in affiliations 5 and 9.The city names were corrrected.
IMiDs (immunomodulatory drugs from the thalidomide class) enhance hemoglobin F (HbF) production but are not yet approved for sickle cell disease (SCD). Here, we describe a case of severe SCD and multiple myeloma (MM) in...IMiDs (immunomodulatory drugs from the thalidomide class) enhance hemoglobin F (HbF) production but are not yet approved for sickle cell disease (SCD). Here, we describe a case of severe SCD and multiple myeloma (MM) in which over 6 years of treatment with IMiDs and hydroxyurea led to sustained remission of SCD.
CYCS encodes somatic cytochrome c, which plays a central role in the electron transport chain and oxidative phosphorylation. We report nine cases of autosomal dominant, non-syndromic CYCS-related thrombocytopenia in thre...CYCS encodes somatic cytochrome c, which plays a central role in the electron transport chain and oxidative phosphorylation. We report nine cases of autosomal dominant, non-syndromic CYCS-related thrombocytopenia in three Japanese families. Patients showed no or mild bleeding tendency, with preserved platelet size and morphology, and without other abnormalities in blood cell lineages. Using targeted gene sequencing for congenital thrombocytopenia, we identified pathogenic missense variants in CYCS, shared by all affected individuals in each family. Two were previously reported: c.274A > G,p.(Arg92Gly) and c.309C > T,p.(Thr103Ile); one was novel: c.212A > C,p.(Asn71Thr). Genetic testing should be considered in unexplained familial thrombocytopenia.