International Journal of Hematology最新文献

Efficacy of ibrutinib and diagnostic liver biopsy for idiopathic refractory ascites after allogeneic stem cell transplantation. 异基因干细胞移植后特发性难治性腹水依鲁替尼和诊断性肝活检的疗效。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-04 DOI: 10.1007/s12185-025-04080-3

Shota Takahata, Kazuki Sakatoku, Masanori Shiohara, Yosuke Nakaya, Mirei Horiuchi, Kentaro Ido, Yosuke Makuuchi, Masatomo Kuno, Hiroshi Okamura, Mitsutaka Nishimoto, Yasuhiro Nakashima, Mika Nakamae, Masayuki Hino, Hirohisa Nakamae

{"title":"Efficacy of ibrutinib and diagnostic liver biopsy for idiopathic refractory ascites after allogeneic stem cell transplantation.","authors":"Shota Takahata, Kazuki Sakatoku, Masanori Shiohara, Yosuke Nakaya, Mirei Horiuchi, Kentaro Ido, Yosuke Makuuchi, Masatomo Kuno, Hiroshi Okamura, Mitsutaka Nishimoto, Yasuhiro Nakashima, Mika Nakamae, Masayuki Hino, Hirohisa Nakamae","doi":"10.1007/s12185-025-04080-3","DOIUrl":"https://doi.org/10.1007/s12185-025-04080-3","url":null,"abstract":"Idiopathic portal hypertension-related refractory ascites (IRA) is a rare but potentially life-threatening complication following allogeneic hematopoietic cell transplantation (allo-HCT). Its pathogenesis remains unclear, and optimal diagnostic and therapeutic strategies have yet to be established. Here, we report a case of a 58-year-old man who developed progressive ascites after allo-HCT. Although the clinical findings met diagnostic criteria for hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS), liver histology revealed no hallmark features of VOD/SOS, such as sinusoidal dilatation or central venous fibrosis. Instead, portal venopathy with lymphocytic infiltration and fibrosis suggested a subclinical chronic graft-versus-host disease (GVHD)-like pathology, supporting a diagnosis of IRA by exclusion. Treatment with belumosudil, one of the available treatment options for chronic GVHD, was ineffective. Subsequent treatment with ibrutinib, a Bruton's tyrosine kinase inhibitor, led to resolution of ascites within three days. This is the second reported case of successful treatment of IRA with ibrutinib, and highlights the importance of considering ibrutinib-responsive immune-mediated mechanisms in the differential diagnosis of post-transplant ascites. Given the fundamental differences in treatment strategies between IRA and VOD/SOS, our findings underscore the need for accurate diagnosis, including histopathological evaluation, to guide effective therapy and improve patient outcomes in this challenging clinical scenario.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225431","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

Tertiary prophylaxis with extended half-life factor prophylaxis: a model to reduce disability in low- and middle-income countries. 延长半衰期因素预防的三级预防：低收入和中等收入国家减少残疾的一种模式。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-02 DOI: 10.1007/s12185-025-04075-0

Archit S Pandharipande, Silky Jain, Anuj Singh, Shruti Verma, Eby P Baby, Hari Gaire, Sudipto Bhattacharya, Aditi Tulsiyan, Savitri Singh, Nita Radhakrishnan

{"title":"Tertiary prophylaxis with extended half-life factor prophylaxis: a model to reduce disability in low- and middle-income countries.","authors":"Archit S Pandharipande, Silky Jain, Anuj Singh, Shruti Verma, Eby P Baby, Hari Gaire, Sudipto Bhattacharya, Aditi Tulsiyan, Savitri Singh, Nita Radhakrishnan","doi":"10.1007/s12185-025-04075-0","DOIUrl":"https://doi.org/10.1007/s12185-025-04075-0","url":null,"abstract":"Introduction: The real-world data on treatment and outcome of hemophilia patients using extended half-life products in developing countries remain scarce. This is largely due to delayed diagnosis, poor joint outcomes, increased morbidity, and limited access to prophylaxis and newer products for treatment and prevention.Aim: To analyze the response to extended half-life factor (EHL) prophylaxis in patients with severe hemophilia A and B with advanced arthropathy.Methods: Patients with severe hemophilia A and B who received EHL factor concentrates for prophylaxis at our center were included in this analysis. Data collected included bleed frequency, joint involvement, annualized bleed rate (ABR), number of hospital visits, and Hemophilia Joint Health Score (HJHS) prior to prophylaxis. Breakthrough bleeds while on prophylaxis were also recorded.Results: A total of 31 patients were started on EHL prophylaxis and followed up for a period ranging from 4 to 91 weeks. A reduction in the bleeding rate was noticed in all with significant reversal of target joints. Additionally, patients remained bleed-free during rehabilitation following joint surgery as well as psoas bleed-related compression neuropathy.Conclusion: EHL prophylaxis appears to be an effective strategy even for patients with baseline target joints with significant arthropathy, thus reducing the extent of disability in these patients.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205841","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

Investigation of early mortality in the patients with newly diagnosed multiple myeloma: insights from a real-world cohort using J-CHAEGE-MM database. 新诊断多发性骨髓瘤患者早期死亡率的调查：来自J-CHAEGE-MM数据库的真实世界队列的见解

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-02 DOI: 10.1007/s12185-025-04069-y

Michihide Tokuhira, Hitomi Nakayama, Kohtaro Toyama, Motoki Takano, Noriyoshi Iriyama, Atsushi Takahata, Eriko Sato, Yasutaka Senpuku, Maho Kawakami, Keigo Okada, Keisuke Tanaka, Takashi Abe, Yuki Osada, Koh Yamamoto, Junichi Watanabe, Toshiaki Hayashi, Yasunobu Sekiguchi, Yuta Kimura, Gaku Oshikawa, Masaru Nakagawa, Ken Suzuki, Takashi Kumagai, Shigeo Toyota, Katsuhiro Miura, Takayuki Ikezoe, Tomonori Nakazato, Takehiko Mori

{"title":"Investigation of early mortality in the patients with newly diagnosed multiple myeloma: insights from a real-world cohort using J-CHAEGE-MM database.","authors":"Michihide Tokuhira, Hitomi Nakayama, Kohtaro Toyama, Motoki Takano, Noriyoshi Iriyama, Atsushi Takahata, Eriko Sato, Yasutaka Senpuku, Maho Kawakami, Keigo Okada, Keisuke Tanaka, Takashi Abe, Yuki Osada, Koh Yamamoto, Junichi Watanabe, Toshiaki Hayashi, Yasunobu Sekiguchi, Yuta Kimura, Gaku Oshikawa, Masaru Nakagawa, Ken Suzuki, Takashi Kumagai, Shigeo Toyota, Katsuhiro Miura, Takayuki Ikezoe, Tomonori Nakazato, Takehiko Mori","doi":"10.1007/s12185-025-04069-y","DOIUrl":"https://doi.org/10.1007/s12185-025-04069-y","url":null,"abstract":"Although novel therapeutic agents, including proteasome inhibitors, immunomodulatory drugs, and anti-CD38 monoclonal antibodies, have markedly improved outcomes in multiple myeloma (MM), the disease remains incurable and is associated with various causes of death. However, comprehensive analyses of mortality patterns, particularly early mortality, are still limited. In this study, we focused on patients who died within one year of treatment initiation (1-year group), based on data from the J-CHARGE-MM database showing that 146 out of 461 total deaths (31.7%) occurred within the first year. The most common cause of death was disease progression (43.2%), followed by infection (primarily pneumonia and sepsis), which frequently occurred within the first few months of induction therapy. Cardiac-associated events, such as heart failure and cardiac amyloidosis (including suspected cases), accounted for 14.4% of deaths, and sudden death for 7.5%. Multivariate analysis revealed that early mortality was significantly associated with age ≥ 65 years, elevated serum lactate dehydrogenase (LDH), elevated serum C-reactive protein (CRP), and poor performance status (PS ≥ 3), compared with later deaths. These findings support that early mortality in MM may be reduced through comprehensive cardiac evaluation and proactive infection prevention strategies, particularly in elderly patients with elevated CRP, elevated LDH, or poor PS.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206518","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

Real-world treatment patterns and outcomes of patients with LR-MDS in Japan: an electronic health record database study. 日本低密度mds患者的现实世界治疗模式和结果：一项电子健康记录数据库研究

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-02 DOI: 10.1007/s12185-025-04077-y

Shuji Uno, Mayuko Nakakoji, Shuichi Midorikawa, Takuya Kitano, Ryo Tajiri, Jin Hayakawa, Kenichi Minehata, Takahiro Suzuki

{"title":"Real-world treatment patterns and outcomes of patients with LR-MDS in Japan: an electronic health record database study.","authors":"Shuji Uno, Mayuko Nakakoji, Shuichi Midorikawa, Takuya Kitano, Ryo Tajiri, Jin Hayakawa, Kenichi Minehata, Takahiro Suzuki","doi":"10.1007/s12185-025-04077-y","DOIUrl":"https://doi.org/10.1007/s12185-025-04077-y","url":null,"abstract":"Real-world treatment patterns and clinical outcomes for patients with lower-risk myelodysplastic syndromes (LR-MDS) in Japan are insufficiently characterized. This study assessed treatment patterns, clinical outcomes, costs, and healthcare resource utilization of patients with LR-MDS in Japan using the AsMedix electronic health record database. The study included 177 patients aged ≥ 18 years with LR-MDS, identified between April 1, 2017, and March 31, 2022. Of these, 79 were transfusion dependent (TD) and 98 were non-transfusion dependent (NTD). Treatment patterns were diverse, and 57 (32.2%) patients received hypomethylating agents (combination or monotherapy) as first-line treatment. Median (95% confidence interval) overall survival was 32.6 months (17.6-not evaluable) among TD patients who achieved red blood cell transfusion independence (RBC-TI) ≥ 8 weeks during weeks 1-24, compared with 22.3 months (10.1-not evaluable) among those who did not (P = 0.17). Among NTD patients, maintaining NTD status was also associated with longer median overall survival. Furthermore, patients who achieved or maintained RBC-TI incurred roughly half the monthly medical costs per individual compared with those who did not, highlighting the clinical and economic importance of reducing RBC transfusion requirements. Further research is needed to understand the impacts of treatment on patients with LR-MDS-related anemia in Japan.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206464","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

Safety of hematopoietic stem cell donation from young related donors following the lowering of the age of legal adulthood in Japan. 日本法定成年年龄降低后，年轻相关献血者捐献造血干细胞的安全性。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 Epub Date: 2025-05-20 DOI: 10.1007/s12185-025-04007-y

Tsuneaki Hirakawa, Hiromasa Yabe, Masayuki Hino, Noriko Doki, Satoshi Yoshihara, Shuichi Ota, Takahiro Fukuda, Hirohisa Nakamae, Jun Ishikawa, Yuta Hasegawa, Tetsuya Nishida, Noboru Asada, Hidekazu Nishikii, Toshiro Kawakita, Masayoshi Masuko, Yasuo Mori, Toshihiko Ando, Kazuhiko Ikeda, Marie Ohbiki, Yoshiko Atsuta, Nobuhiro Tsukada, Ryu Yanagisawa

{"title":"Safety of hematopoietic stem cell donation from young related donors following the lowering of the age of legal adulthood in Japan.","authors":"Tsuneaki Hirakawa, Hiromasa Yabe, Masayuki Hino, Noriko Doki, Satoshi Yoshihara, Shuichi Ota, Takahiro Fukuda, Hirohisa Nakamae, Jun Ishikawa, Yuta Hasegawa, Tetsuya Nishida, Noboru Asada, Hidekazu Nishikii, Toshiro Kawakita, Masayoshi Masuko, Yasuo Mori, Toshihiko Ando, Kazuhiko Ikeda, Marie Ohbiki, Yoshiko Atsuta, Nobuhiro Tsukada, Ryu Yanagisawa","doi":"10.1007/s12185-025-04007-y","DOIUrl":"10.1007/s12185-025-04007-y","url":null,"abstract":"The Japanese government's recent lowering of the legal adult age to 18 may prompt reconsideration of the minimum age for donors in the Japan Marrow Donor Program. To provide foundational data for decision-makers, this retrospective study analyzed the safety of hematopoietic stem cell donation among 1999 related donors aged 18 to 24 years, using data from the Japanese Data Center for Hematopoietic Cell Transplantation. Severe adverse events (SAEs) occurred in 1.0% of all donors, with no significant difference between those aged 18 to 19 (0.7%) and those aged 20 to 24 (1.1%) (P = 0.59). Risk factors for SAEs included ongoing asthma treatment (HR 34.6, 95% CI 2.29-524.00, P < 0.01), history of asthma (HR 11.3, 95% CI 2.46-51.70, P < 0.01), and female sex (HR 4.64, 95% CI 1.51-14.20, P < 0.01). However, age of 18 to 19 was not a significant risk factor (HR 0.53, 95% CI 0.14-2.01, P = 0.35). These results indicate that stem cell donation safety in 18- to 19-year-old donors is comparable to that in 20- to 24-year-olds, with increased risks linked to asthma and female sex.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":"572-582"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110619","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

A phase 3 study of the efficacy and safety of avatrombopag in Japanese adults with chronic immune thrombocytopenia. 一项针对日本成人慢性免疫性血小板减少症患者的阿伐罗巴格疗效和安全性的3期研究。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 Epub Date: 2025-05-20 DOI: 10.1007/s12185-025-04001-4

Hiroki Yamaguchi, Masaki Iino, Shugo Kowata, Ryusuke Yamamoto, Jun Yamanouchi, Yutaka Imamura, Keita Kirito, Kenji Yokoyama, Tomoki Ito, Tatsunori Ishikawa, Motoaki Shiratsuchi, Yoshiaki Tomiyama, Harumi Kamiya, Jessica Zhang, Brian D Jamieson

{"title":"A phase 3 study of the efficacy and safety of avatrombopag in Japanese adults with chronic immune thrombocytopenia.","authors":"Hiroki Yamaguchi, Masaki Iino, Shugo Kowata, Ryusuke Yamamoto, Jun Yamanouchi, Yutaka Imamura, Keita Kirito, Kenji Yokoyama, Tomoki Ito, Tatsunori Ishikawa, Motoaki Shiratsuchi, Yoshiaki Tomiyama, Harumi Kamiya, Jessica Zhang, Brian D Jamieson","doi":"10.1007/s12185-025-04001-4","DOIUrl":"10.1007/s12185-025-04001-4","url":null,"abstract":"Avatrombopag is an oral thrombopoietin receptor agonist approved widely for the treatment of adults with chronic immune thrombocytopenia (ITP). However, data in Japanese patients are limited. This confirmatory phase 3, open-label study investigated avatrombopag (initial dose 20 mg/day) in Japanese adults (aged ≥ 18 years) with chronic ITP (≥ 12 months), insufficient response to prior treatment and an average of 2 platelet counts (PCs) < 30 × 109/L. The primary endpoint was the cumulative number of weeks of platelet response (PC ≥ 50 × 109/L) without rescue therapy for bleeding. Secondary endpoints included platelet response rate at Day 8 and safety. In total, 19 patients were enrolled into the 26-week core phase. The mean age was 56.0 years; 78.9% of patients were female. Mean cumulative number of weeks of platelet response was 13.5 (95% CI 9.1-17.8). Platelet response at Day 8 was achieved by 63.2% of patients. In the core phase, adverse events (AEs) occurred in 94.7% of patients and serious AEs in 15.8%. No thromboembolic events or deaths occurred in the core phase. Avatrombopag demonstrated a rapid and durable platelet response and was well tolerated in Japanese patients with chronic ITP. Long-term safety and efficacy are being assessed in the ongoing extension phase.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":"521-532"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction: A phase 3 study of the efficacy and safety of avatrombopag in Japanese adults with chronic immune thrombocytopenia. 更正：一项针对日本成人慢性免疫性血小板减少症患者的阿伐罗巴格疗效和安全性的3期研究。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 DOI: 10.1007/s12185-025-04054-5

Hiroki Yamaguchi, Masaki Iino, Shugo Kowata, Ryusuke Yamamoto, Jun Yamanouchi, Yutaka Imamura, Keita Kirito, Kenji Yokoyama, Tomoki Ito, Tatsunori Ishikawa, Motoaki Shiratsuchi, Yoshiaki Tomiyama, Harumi Kamiya, Jessica Zhang, Brian D Jamieson

引用次数: 0

JSH practical guidelines for hematological malignancies, 2023 III. Myeloma 1. Multiple myeloma (MM). JSH血液系统恶性肿瘤实用指南，2023。骨髓瘤1。多发性骨髓瘤（MM）。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1007/s12185-025-04045-6

Shinsuke Iida, Shigeki Ito, Kazutaka Sunami, Hiroyuki Takamatsu, Nobuhiro Tsukada, Naoki Hosen, Hirokazu Miki

引用次数: 0

JSH practical guidelines for hematological malignancies, 2023 III. Myeloma 2. Related disorders of multiple myeloma. JSH血液系统恶性肿瘤实用指南，2023。骨髓瘤2。多发性骨髓瘤的相关疾病。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 Epub Date: 2025-08-19 DOI: 10.1007/s12185-025-04051-8

Shinsuke Iida, Shigeki Ito, Kazutaka Sunami, Hiroyuki Takamatsu, Nobuhiro Tsukada, Naoki Hosen, Hirokazu Miki, Shin-Ichi Fuchida, Emiko Sakaida

引用次数: 0

Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol. 全基因组测序揭示了采用HLH-2004方案治疗的日本噬血细胞淋巴组织细胞增多症患者的遗传背景。

IF 1.8 4区医学

International Journal of Hematology Pub Date : 2025-10-01 Epub Date: 2025-05-21 DOI: 10.1007/s12185-025-04000-5

Ryu Yanagisawa, Manabu Wakamatsu, Dan Tomomasa, Kenichi Sakamoto, Rintaro Ono, Takehiko Doi, Ko Kudo, Hisanori Fujino, Kazuko Kudo, Akira Morimoto, Yoko Shioda, Takahiro Yasumi, Hideki Makishima, Hideki Muramatsu, Yoshiyuki Takahashi, Hirokazu Kanegane, Yozo Nakazawa

{"title":"Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol.","authors":"Ryu Yanagisawa, Manabu Wakamatsu, Dan Tomomasa, Kenichi Sakamoto, Rintaro Ono, Takehiko Doi, Ko Kudo, Hisanori Fujino, Kazuko Kudo, Akira Morimoto, Yoko Shioda, Takahiro Yasumi, Hideki Makishima, Hideki Muramatsu, Yoshiyuki Takahashi, Hirokazu Kanegane, Yozo Nakazawa","doi":"10.1007/s12185-025-04000-5","DOIUrl":"10.1007/s12185-025-04000-5","url":null,"abstract":"Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory condition triggered by a combination of genetic predispositions and environmental factors. Reports of previous outcomes from the HLH-2004 protocol in Japan revealed patients with idiopathic HLH who had poor prognoses. This study aimed to reevaluate the genetic background of such patients to identify potential novel genetic variants.Methods: Whole-genome sequencing was performed on residual samples from HLH patients enrolled in a study of the HLH-2004 protocol in Japan, excluding those associated with Epstein-Barr virus infection. Sequence variants were interpreted based on the American College of Medical Genetics and Genomics standards and guidelines.Results: Nineteen patients were analyzed, including seven diagnosed with familial HLH (FHL) and twelve with unknown causes. Among patients with FHL, five had variants in PRF1 and two in UNC13D, consistent with the original diagnoses. Genetic variants (all UNC13D) were identified in three of the 12 previously undiagnosed patients. One patient had an unknown outcome and the others died of HLH.Conclusion: Failure to establish a genetic diagnosis during initial evaluation may have negatively impacted the prognosis of patients with HLH. Comprehensive genetic studies and the development of early screening methods may improve treatment outcomes for HLH.","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":"583-589"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119427","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