International Journal of Hematology最新文献_第3页

Myelodysplastic neoplasms with unbalanced whole-arm translocation der(5;19)(p10;q10): association with double-hit TP53 mutations. 骨髓增生异常肿瘤伴不平衡的全臂易位（5;19）（p10;q10）：与双击TP53突变相关。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-26 DOI: 10.1007/s12185-025-04076-z

Kensuke Kojima, Noriko Tsuge, Shohei Yoshida, Dai Umebara, Yoshie Nishida, Shiori Miyazaki, Tadashi Asagiri

{"title":"Myelodysplastic neoplasms with unbalanced whole-arm translocation der(5;19)(p10;q10): association with double-hit TP53 mutations.","authors":"Kensuke Kojima, Noriko Tsuge, Shohei Yoshida, Dai Umebara, Yoshie Nishida, Shiori Miyazaki, Tadashi Asagiri","doi":"10.1007/s12185-025-04076-z","DOIUrl":"https://doi.org/10.1007/s12185-025-04076-z","url":null,"abstract":"Unbalanced whole-arm translocation der(5;19)(p10;q10) is a rare but recurrent cytogenetic aberration noted in patients with myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). Eight cases of MDS/AML with der(5;19)(p10;q10) have been previously reported. Here, we describe three additional cases of MDS with der(5;19)(p10;q10) at our institution, in which we identified myeloid malignancy-associated mutations using next-generation sequencing. All patients had two TP53 mutations, each with >10% variant allele frequency, suggesting double-hit TP53 mutations. Double-hit TP53 mutations are only found in approximately 2% of patients with MDS, and may be involved in the development of the cytogenetic abnormalities der(5;19)(p10;q10), +19, and complex karyotype, often associated with exposure to alkylating agents. We propose der(5;19)(p10;q10) as a potential cytogenetic indicator of biallelic TP53 inactivation through double-hit mutations. These data suggest that MDS with der(5;19)(p10;q10) is clinically characterized by aberrant CD7 expression in blasts, a tendency for leukemic transformation, resistance to anti-leukemia therapies, and poor survival outcomes. We also noted that cases of der(5;19)(p10;q10) MDS/AML have been reported exclusively by Japanese institutions. Geographical and ethnic factors may contribute to oncogenesis, which can be triggered by exposure to alkylating agents.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145148757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Successful treatment of steroid-refractory gastrointestinal GVHD with ruxolitinib in a patient after autologous stem cell transplantation: a case report. 自体干细胞移植后ruxolitinib成功治疗类固醇难治性胃肠道GVHD 1例。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-26 DOI: 10.1007/s12185-025-04073-2

Duha Yahya, Mona Ayran, Ferhat Özden, Amir Hossein Abedi, Sureyya Yiğit Kaya, Hüseyin Saffet Beköz, Aslı Çakır, Senem Maral, Leylagül Kaynar

引用次数: 0

Functional characterization of two protein C variants causing type I deficiency via cellular degradation or retention. 通过细胞降解或保留导致I型缺陷的两种蛋白C变异的功能特征。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-24 DOI: 10.1007/s12185-025-04072-3

Ibuki Yasuda, Satomi Nagaya, Rikuto Yui, Yuta Imai, Yamato Kuwajima, Eriko Morishita

{"title":"Functional characterization of two protein C variants causing type I deficiency via cellular degradation or retention.","authors":"Ibuki Yasuda, Satomi Nagaya, Rikuto Yui, Yuta Imai, Yamato Kuwajima, Eriko Morishita","doi":"10.1007/s12185-025-04072-3","DOIUrl":"https://doi.org/10.1007/s12185-025-04072-3","url":null,"abstract":"Hereditary protein C (PC) deficiency is a thrombotic disorder caused by variants in the PC gene (PROC). In this study, we identified a novel variant, p.Leu173Pro (L173P), and a previously reported variant, p.Val241Leu (V241L), in two unrelated Japanese families with venous thrombosis. We investigated the mechanisms by which these variants lead to type I PC deficiency. PC expression vectors were constructed and transiently expressed in human embryonic kidney 293 cells. Cell lysates and culture supernatants were subsequently analyzed by Western blotting, and intracellular trafficking was evaluated. Both PC-L173P and PC-V241L variants exhibited significantly reduced extracellular secretion compared to the wild-type PC. Furthermore, PC-L173P underwent proteasome-mediated intracellular degradation, whereas PC-V241L appeared to accumulate within the endoplasmic reticulum. This study elucidates the mechanism by which type I PC deficiency arises from distinct secretion defects: intracellular degradation and retention. Although both PROC variants result in type I PC deficiency, their differing intracellular fates are likely attributable to the mutation site and the physicochemical properties of the substituted amino acids. These findings underscore the heterogeneity of secretion defects in type I PC deficiency and provide novel insights into its molecular pathophysiology.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Langerhans cell histiocytosis with mesenteric involvement successfully treated with trametinib: a rare cause of small intestine obstruction. 朗格汉斯细胞组织细胞增生与肠系膜累及成功治疗与曲美替尼：小肠梗阻的罕见原因。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-22 DOI: 10.1007/s12185-025-04071-4

Long Chang, Kai-Ni Shen, Ya-Ping Luo, Xin-Xin Cao

引用次数: 0

Late renal, liver, endocrine, and cardiac outcomes of bone marrow transplantation in Kurdish children with β-thalassemia major. 库德族β-地中海贫血儿童骨髓移植的晚期肾、肝、内分泌和心脏预后

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-19 DOI: 10.1007/s12185-025-04067-0

Hasan Abdullah Aswad, Azad Abduljabar Haleem, Adil Abozaid Eissaa

{"title":"Late renal, liver, endocrine, and cardiac outcomes of bone marrow transplantation in Kurdish children with β-thalassemia major.","authors":"Hasan Abdullah Aswad, Azad Abduljabar Haleem, Adil Abozaid Eissaa","doi":"10.1007/s12185-025-04067-0","DOIUrl":"https://doi.org/10.1007/s12185-025-04067-0","url":null,"abstract":"This study investigated late renal, liver, endocrine, and cardiac outcomes in 52 Kurdish children aged 7-18 years who underwent bone marrow transplantation (BMT) for β-thalassemia major (β-TM). Boys had higher levels of hemoglobin and alkaline phosphatase than girls. Conversely, girls exhibited higher levels of SGPT, ferritin, T4, and eGFR. In all patients, BUN (71.15%), ALP (100%), PT (96.15%), TSB (34.62%), and serum ferritin (48.08%) were elevated, while Hb (57.69%) and serum creatinine (42.31%) were lower than normal. At ages 1-5, 6-10, and 11-15 years, patients had significantly lower serum ferritin (1053.0, 212.0, and 105.05; p = 0.0004) and SGOT (30.0, 22.0, and 26.50; p = 0.0231) levels. Echocardiography showed normal heart function in 47 patients (90.39%), with minor abnormalities observed in only 9.61%. The mean eGFR was 89.70 (SD: 22.93), with girls showing a significantly higher average (98.83) than boys (72.70; p < 0.0001). Kidney function was most often mildly decreased (55.77%), followed by normal/increased (40.39%), and mild-to-moderately decreased (3.85%). Girls were more likely to have normal/ increased kidney function (61.54%), while boys predominantly had mildly decreased kidney function (76.92%) with no significant difference between ages in all patients. Most of the children with β-TM had mildly decreased kidney function and higher liver function test values.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Significance of the tendency for relative bradycardia during induction therapy for acute myeloid leukemia. 急性髓系白血病诱导治疗中相对心动过缓倾向的意义。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-18 DOI: 10.1007/s12185-025-04070-5

Ryutaro Tominaga, Shin-Ichiro Fujiwara, Seina Honda, Daizo Yokoyama, Atsuto Noguchi, Shuka Furuki, Shunsuke Koyama, Rui Murahashi, Hirotomo Nakashima, Kazuki Hyodo, Shin-Ichiro Kawaguchi, Yumiko Toda, Kento Umino, Daisuke Minakata, Masahiro Ashizawa, Chihiro Yamamoto, Kaoru Hatano, Kazuya Sato, Ken Ohmine, Yoshinobu Kanda

{"title":"Significance of the tendency for relative bradycardia during induction therapy for acute myeloid leukemia.","authors":"Ryutaro Tominaga, Shin-Ichiro Fujiwara, Seina Honda, Daizo Yokoyama, Atsuto Noguchi, Shuka Furuki, Shunsuke Koyama, Rui Murahashi, Hirotomo Nakashima, Kazuki Hyodo, Shin-Ichiro Kawaguchi, Yumiko Toda, Kento Umino, Daisuke Minakata, Masahiro Ashizawa, Chihiro Yamamoto, Kaoru Hatano, Kazuya Sato, Ken Ohmine, Yoshinobu Kanda","doi":"10.1007/s12185-025-04070-5","DOIUrl":"https://doi.org/10.1007/s12185-025-04070-5","url":null,"abstract":"This study explored the relationship between body temperature (BT) and heart rate (HR) data during acute myeloid leukemia (AML) treatment, using relative bradycardia (RB) as an index. RB trends were also assessed in confirmed infections and during intensive chemotherapy. Data from AML patients who received induction therapy (anthracycline and cytarabine) at Jichi Medical University Hospital between May 2015 and December 2023 were analyzed. A total of 1000 febrile events (axillary temperature ≥ 37.8 °C) in 97 patients were included. Multivariate analysis showed an HR increase of 6.57 bpm (95% CI 4.44-8.70) per 1 °C rise in BT. RB, defined as BT ≥ 37.8 °C with HR < 90 bpm, was observed in 630 events (63.0%). RB was more likely with age ≥ 44 years, hemoglobin ≥ 6.5 g/dL, and reduced-intensity regimens. In contrast, BT ≥ 38.6 °C, diastolic BP ≥ 70 mmHg, oxygen therapy, CRP ≥ 7.13 mg/dL, and incomplete hematologic recovery decreased the likelihood of RB. In addition, RB was significantly associated with documented infection (OR = 2.32, 95% CI 1.17-4.61, p = 0.016). RB frequently occurred during AML induction therapy, and may serve as an indicator of infection.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Massive pleural effusion as the initial presentation of Waldenström macroglobulinemia: rare extramedullary involvement. 大量胸腔积液作为Waldenström巨球蛋白血症的初始表现：罕见的髓外受累。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-17 DOI: 10.1007/s12185-025-04068-z

Naoki Okada, Kenji Notohara, Yasunori Ueda, Takeshi Maeda

引用次数: 0

A rare case of concurrent metastatic breast cancer and follicular lymphoma diagnosed by lymph node biopsy: a case report. 一个罕见的病例并发转移性乳腺癌和滤泡性淋巴瘤诊断淋巴结活检：1例报告。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-17 DOI: 10.1007/s12185-025-04066-1

Yuya Masuda, Riko Kitazawa, Yukihiro Miyazaki

引用次数: 0

Area under tacrolimus concentrations predict outcomes after unrelated allogeneic hematopoietic stem cell transplantation. 他克莫司浓度下的面积预测非相关异体造血干细胞移植后的预后。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-12 DOI: 10.1007/s12185-025-04062-5

Susumu Tanoue, Takeshi Saito, Hiroki Yokoyama, Hiroto Ishii, Aya Ouchi-Nakano, Rika Hosoba, Daiki Hattori, Kohei Sato, Saya Motohashi, Kaichi Nishiwaki, Nobuaki Dobashi, Shingo Yano

{"title":"Area under tacrolimus concentrations predict outcomes after unrelated allogeneic hematopoietic stem cell transplantation.","authors":"Susumu Tanoue, Takeshi Saito, Hiroki Yokoyama, Hiroto Ishii, Aya Ouchi-Nakano, Rika Hosoba, Daiki Hattori, Kohei Sato, Saya Motohashi, Kaichi Nishiwaki, Nobuaki Dobashi, Shingo Yano","doi":"10.1007/s12185-025-04062-5","DOIUrl":"https://doi.org/10.1007/s12185-025-04062-5","url":null,"abstract":"Previous studies have shown that the blood concentration of calcineurin inhibitors is related to the incidence of acute graft-versus-host disease (GVHD) in allogeneic hematopoietic stem cell transplantation (allo-HSCT). However, its utility as an indicator for GVHD relapse prevention and graft-versus-tumor effect assessment has mostly been investigated in umbilical cord blood transplantation. We hypothesized that the simple area under the tacrolimus (TAC) concentration (AUTC) early after transplantation reflects TAC pharmacokinetics more accurately than the mean TAC concentration (MTC), and analyzed the relationship of AUTC with outcomes after unrelated allo-HSCT for myeloid malignancies. We set cut-off values of MTCs and AUTCs using receiver-operating-characteristic curves for each outcome. Patients with high MTC in week 3 (MTC 3) had a lower cumulative incidence of acute GVHD. High MTC 3 was associated with a higher relapse rate in univariate analysis, but was not significant in multivariate analysis. Meanwhile, high AUTC in week 3 (AUTC 3) was a predictor of relapse, worse relapse-free survival, and overall survival in both univariate and multivariate analysis. Development of acute GVHD was not associated with relapse. Therefore, AUTC 3 after unrelated allo-HSCT for myeloid malignancies may better reflect the relapse prevention effect of immunosuppression intensity than MTC or development of acute GVHD.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145053128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic prognostic markers in LymphGen-unclassifiable diffuse large B cell lymphoma. 淋巴无法分类的弥漫性大B细胞淋巴瘤的遗传预后标志物。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-09-12 DOI: 10.1007/s12185-025-04065-2

Yusuke Kanemasa, Daichi Sadato, Maya Isogai, Mina Ogawa, Chizuko Hirama, Hideya Kawaji, Tatsuro Yamaguchi, Yuka Harada, Tsunekazu Hishima, Keisuke Oboki, Tatsu Shimoyama

{"title":"Genetic prognostic markers in LymphGen-unclassifiable diffuse large B cell lymphoma.","authors":"Yusuke Kanemasa, Daichi Sadato, Maya Isogai, Mina Ogawa, Chizuko Hirama, Hideya Kawaji, Tatsuro Yamaguchi, Yuka Harada, Tsunekazu Hishima, Keisuke Oboki, Tatsu Shimoyama","doi":"10.1007/s12185-025-04065-2","DOIUrl":"https://doi.org/10.1007/s12185-025-04065-2","url":null,"abstract":"Diffuse large B cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma, has variable treatment responses and distinct molecular subtypes. Despite therapeutic advances, a significant number of patients experience treatment failure or relapse. Recent genetic subtyping methods, such as the LymphGen algorithm, classify DLBCL into molecular subtypes. However, a subset of cases remains categorized as \"LymphGen-unclassifiable\" (\"Other\" group in the LymphGen classification). These cases lack distinctive genetic features and present challenges for risk assessment. In this study, we aimed to identify prognostic genetic markers specific to LymphGen-unclassifiable DLBCL. Using a discovery cohort from the National Cancer Institute, we identified genetic alterations in CDKN2A and PIM1 that were significantly associated with overall survival in this patient group. We then validated the model in a separate cohort from Komagome Hospital in Tokyo. Our model, combined with the International Prognostic Index (IPI), identified high-risk LymphGen-unclassifiable DLBCL patients within the high-risk IPI group, showing a 2-year overall survival rate of 38% versus 72%. This approach could support the development of more targeted therapies by improving prognostic accuracy and advancing understanding of LymphGen-unclassifiable DLBCL.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0