[Rinsho ketsueki] The Japanese journal of clinical hematology最新文献_第6页

[Comparison of clinical characteristics and cytogenetic abnormalities between myelodysplastic syndromes in Nagasaki atomic bomb survivors and therapy-related myelodysplastic syndromes]. [长崎原子弹爆炸幸存者骨髓增生异常综合征与治疗相关骨髓增生异常综合征的临床特征和细胞遗传学异常的比较]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.885

Makiko Horai, Takafumi Furumoto, Eo Toriyama, Yuichi Yamada, Miki Hashimoto, Hikaru Sakamoto, Takeharu Kato, Masataka Taguchi, Shinya Sato, Koji Ando, Tomoko Hata, Yasushi Miyazaki

{"title":"[Comparison of clinical characteristics and cytogenetic abnormalities between myelodysplastic syndromes in Nagasaki atomic bomb survivors and therapy-related myelodysplastic syndromes].","authors":"Makiko Horai, Takafumi Furumoto, Eo Toriyama, Yuichi Yamada, Miki Hashimoto, Hikaru Sakamoto, Takeharu Kato, Masataka Taguchi, Shinya Sato, Koji Ando, Tomoko Hata, Yasushi Miyazaki","doi":"10.11406/rinketsu.67.885","DOIUrl":"https://doi.org/10.11406/rinketsu.67.885","url":null,"abstract":"Background: Myelodysplastic syndromes (MDS) are classified into de novo and secondary forms. MDS among atomic bomb survivors (A-bomb-related MDS) is considered radiation-associated secondary MDS, whereas therapy-related MDS (t-MDS) develops after cytotoxic therapy and generally has a poor prognosis. However, differences between these two secondary MDS entities remain unclear.Methods: We analyzed patients registered in the Nagasaki MDS cohort who were diagnosed between January 1985 and December 2023. Sixty A-bomb-related MDS and 150 t-MDS cases were included. Clinical characteristics, IPSS-R risk categories, overall survival (OS), and cytogenetic abnormalities at diagnosis were compared.Results: The distribution of IPSS-R risk and cytogenetic risk categories did not differ significantly between groups. Nevertheless, median OS was significantly longer in A-bomb-related MDS than in t-MDS (65 vs. 19 months). Cytogenetic profiling revealed different features between groups, including a significantly higher frequency of monosomy 7 in t-MDS and of balanced structural abnormalities in A-bomb-related MDS. Balanced structural abnormalities were not clearly associated with prognosis.Conclusions: Although both A-bomb-related MDS and t-MDS are both classified as secondary MDS, they showed distinct prognostic and cytogenetic features. These findings suggest that the two conditions represent clinically distinct entities with different pathophysiology.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 8","pages":"885-895"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Development of memory-like CAR-NK cells with durable antitumor activity]. [具有持久抗肿瘤活性的记忆样CAR-NK细胞的发展]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.871

Takahiro Nakashima, Yuki Kagoya

{"title":"[Development of memory-like CAR-NK cells with durable antitumor activity].","authors":"Takahiro Nakashima, Yuki Kagoya","doi":"10.11406/rinketsu.67.871","DOIUrl":"https://doi.org/10.11406/rinketsu.67.871","url":null,"abstract":"Chimeric antigen receptor (CAR)-natural killer (NK) cell therapy has attracted increasing attention in recent clinical studies as a promising alternative to CAR-T cell therapy. CAR-NK cells offer several advantages, including a markedly lower risk of severe cytokine release syndrome and neurotoxicity, as well as the feasibility of developing off-the-shelf products due to the minimal potential for graft-versus-host disease. However, NK cells constitute only a small fraction of peripheral blood and have a relatively short lifespan, raising concerns about the durability of therapeutic efficacy. Recent advances have highlighted that, as in T-cell biology, the acquisition of memory-like phenotypes is critical for sustaining NK-cell function. Strategies to enhance NK-cell persistence, such as cytokine-induced memory-like NK cells and cytokine-engineered NK cells, have progressed rapidly. In parallel, alternative cellular sources, including umbilical cord blood-derived and induced pluripotent stem cell (iPSC)-derived NK cells, are being actively developed, enabling standardized manufacturing and large-scale production of uniform off-the-shelf products. In this review, we summarize the latest developments in CAR-NK cell research and discuss how genetic modulation of NK-cell differentiation pathways may contribute to the establishment of next-generation CAR-NK cell therapies with improved durability and antitumor efficacy.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 8","pages":"871-878"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[What is PPI (Patient and Public Involvement)?] 什么是PPI（患者和公众参与）？］

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.1416

Dai Maruyama

引用次数: 0

[Y chromosome loss in hematopoietic cells and its clinical implications]. [造血细胞Y染色体缺失及其临床意义]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.1053

Soichi Sano

{"title":"[Y chromosome loss in hematopoietic cells and its clinical implications].","authors":"Soichi Sano","doi":"10.11406/rinketsu.67.1053","DOIUrl":"https://doi.org/10.11406/rinketsu.67.1053","url":null,"abstract":"Somatic mosaicism is emerging as a fundamental feature of human aging. Among its most common manifestations in men is acquired loss of the Y chromosome (LOY) in the hematopoietic system, which is most readily detected in blood cells. Although this has long been regarded as a largely incidental consequence of aging, the view is now changing. Epidemiologic studies, human genetic analyses, and experimental models have linked LOY to clonal hematopoiesis, immune dysregulation, chronic inflammation, impaired tissue repair, cardiovascular disease, cancer, and neurodegenerative disorders. Although the human Y chromosome has undergone extensive gene loss during evolution, it has retained genes with functions beyond sex determination and spermatogenesis, including genes expressed in hematopoietic and immune cells. Thus, LOY is not merely a numerical chromosomal abnormality; it may mark, and in some contexts drive, altered cellular states with systemic consequences. In this review, I discuss the evolutionary and biological features of the Y chromosome, summarize current evidence connecting LOY with human disease, and consider how LOY reframes our understanding of aging, immunity, and sex-specific disease susceptibility in men.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 9","pages":"1053-1060"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149290525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Fundamentals of genetic counseling in hematology: pedigree construction and management of secondary findings in HemeSight^®]. [血液学遗传咨询的基础：HemeSight®的家系构建和次要发现的管理]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.1399

Nana Akiyama

{"title":"[Fundamentals of genetic counseling in hematology: pedigree construction and management of secondary findings in HemeSight®].","authors":"Nana Akiyama","doi":"10.11406/rinketsu.67.1399","DOIUrl":"https://doi.org/10.11406/rinketsu.67.1399","url":null,"abstract":"Since the clinical adoption of comprehensive genomic profiling for hematologic malignancies (HemeSight®) in 2025, hematologists have increasingly encountered germline findings in routine practice. In hematologic malignancies, genetic information is relevant not only to diagnosis, prognosis, and treatment selection, but also to the clinical management of at-risk relatives-including predictive testing- and donor selection for hematopoietic stem cell transplantation. This review summarizes the fundamentals of genetic counseling in hematology, focusing on the characteristics of genetic information, the distinction and relationship between genetic medicine and genetic counseling, the significance of family history-taking and pedigree construction, and the management of secondary findings identified through HemeSight®. In addition, two hypothetical cases are presented: a case of AML with a pathogenic germline DDX41 variant and a case of pediatric ALL in which a pathogenic germline BRCA1 variant was identified as a secondary finding. These cases highlight practical issues, including predictive testing for relatives, evaluation of related donor candidates, and the need for multidisciplinary collaboration. In hematology practice, timely collaboration with clinical genetics services is essential for supporting patients and their families.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 9","pages":"1399-1407"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149290585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Update on the diagnosis and management of severe combined immunodeficiency]. [严重联合免疫缺陷的诊断和治疗的最新进展]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.1359

Ryota Komori, Fumiaki Sakura, Takaki Asano, Satoshi Okada

{"title":"[Update on the diagnosis and management of severe combined immunodeficiency].","authors":"Ryota Komori, Fumiaki Sakura, Takaki Asano, Satoshi Okada","doi":"10.11406/rinketsu.67.1359","DOIUrl":"https://doi.org/10.11406/rinketsu.67.1359","url":null,"abstract":"Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), characterized by profound defects in T-cell development and function. Without treatment, affected infants typically develop life-threatening infections and often die within the first year of life. Early diagnosis before the onset of infection is critical because timely curative treatment, such as hematopoietic cell transplantation, can markedly improve survival. In recent years, newborn screening (NBS) using T-cell receptor excision circles (TRECs) has enabled presymptomatic identification of SCID, leading to substantial changes in the clinical management of this disease. However, several challenges have emerged with the widespread implementation of NBS, including false-negative results in adenosine deaminase (ADA) deficiency and difficulties in interpreting TRECs-low results in patients with underlying conditions associated with impaired thymic function. In this review, we summarize the clinical features and pathophysiology of SCID and outline the principles and current status of NBS. We also present a case of X-linked SCID associated with Down syndrome to highlight diagnostic pitfalls and the importance of comprehensive evaluation for early diagnosis.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 9","pages":"1359-1365"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149290590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Primary myelofibrosis with Factor V Leiden diagnosed following portal vein thrombosis]. 【门静脉血栓形成后诊断为原发性骨髓纤维化伴因子V Leiden】。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.104

Akihiko Numata, Takahiro Shima, Takashi Jiromaru, Sachiko Kanaji, Koji Kato, Koichi Akashi

{"title":"[Primary myelofibrosis with Factor V Leiden diagnosed following portal vein thrombosis].","authors":"Akihiko Numata, Takahiro Shima, Takashi Jiromaru, Sachiko Kanaji, Koji Kato, Koichi Akashi","doi":"10.11406/rinketsu.67.104","DOIUrl":"10.11406/rinketsu.67.104","url":null,"abstract":"Primary myelofibrosis (PMF), a subtype of myeloproliferative neoplasms, is frequently associated with thrombosis, particularly in the presence of the JAK2 V617F mutation. In contrast, Factor V Leiden (FVL) is a hereditary thrombophilic mutation commonly observed in Caucasian populations, and clinical encounters with FVL carriers are extremely rare in Japan. Here, we report a case of an American patient who presented with portal hypertension and esophageal variceal bleeding, which led to the diagnosis of PMF. Based on family history, the patient was also diagnosed as a carrier of FVL. Treatment with ruxolitinib resulted in a marked improvement in splenomegaly and symptoms related to portal hypertension. Additionally, the patient safely underwent invasive surgery for a fracture with appropriate perioperative thrombosis risk management. This case represents a rare instance of PMF with FVL mutation encountered in Japan. In cases of atypical-site thrombosis, particularly among Caucasian patients, comprehensive evaluation including MPN driver mutations and other thrombophilic factors is essential to avoid underdiagnosis.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 2","pages":"104-108"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147358048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Recent advances and future perspectives in the treatment of newly diagnosed multiple myeloma]. [新诊断多发性骨髓瘤治疗的最新进展和未来展望]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.771

Tomotaka Suzuki

{"title":"[Recent advances and future perspectives in the treatment of newly diagnosed multiple myeloma].","authors":"Tomotaka Suzuki","doi":"10.11406/rinketsu.67.771","DOIUrl":"https://doi.org/10.11406/rinketsu.67.771","url":null,"abstract":"First-line treatment strategies for multiple myeloma (MM) have undergone a major transformation with the introduction of anti-CD38 monoclonal antibodies, leading to substantial improvements in depth of response and survival outcomes regardless of transplant eligibility. Achieving complete response and minimal residual disease (MRD) negativity has become a realistic therapeutic goal, and durable disease control, or so-called functional cure, is now actively discussed. At the same time, treatment decision-making has become increasingly complex. In particular, for transplant-ineligible patients, optimal therapy selection requires comprehensive consideration of not only efficacy but also toxicity, treatment burden, frailty, and individual patient characteristics. This review summarizes recent advances in frontline therapy for newly diagnosed MM, focusing on anti-CD38-based quadruplet regimens and evolving maintenance strategies. In addition, it discusses future perspectives and unresolved challenges, including the introduction of BCMA-targeted immunotherapies into frontline settings, MRD-guided response-oriented treatment strategies, and the potential role of genomic information in risk stratification and therapeutic decision-making, with an emphasis on implications for real-world clinical practice in Japan.","PeriodicalId":93844,"journal":{"name":"[Rinsho ketsueki] The Japanese journal of clinical hematology","volume":"67 7","pages":"771-779"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148665292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.855

引用次数: 0

[Spontaneous resolution of ATRA-related hearing impairment without symptoms of intracranial hypertension]. [无颅内高压症状的atra相关性听力障碍自发消退]。

[Rinsho ketsueki] The Japanese journal of clinical hematology Pub Date : 2026-01-01 DOI: 10.11406/rinketsu.67.332

Keiji Tasaka, Koji Kawaguchi, Ayako Hashimoto, Kazutaka Maruyama, Ryo Akazawa, Takayuki Takachi, Taemi Ogura, Yasuo Horikoshi, Kenichiro Watanabe

引用次数: 0