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Case report: Experience of a rare case of primary acute mast cell leukemia 病例报告:一例罕见的原发性急性肥大细胞白血病
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100510
Zhijuan Pan, Ying Zhang, Yanru Guo, Jiajia Sun, Xinlei Guo, Zhiping Guo

Backgrounds

Mast cell leukemia (MCL) is a rare and aggressive form of systemic mastocytosis with a poor prognosis. Understanding the different therapeutic responses to corticosteroids in MCL is crucial for improving patient outcomes.

Case presentation

We present a case of a 74-year-old Chinese female with primary acute MCL who exhibited different responses to dexamethasone and methylprednisolone. She was admitted with persistent fever, dyspnea, severe fatigue, and bone pain, alongside splenomegaly and cytopenia. Diagnosis was confirmed through marrow aspirate analysis, chemical staining, flow cytometry, and biopsy, revealing atypical mast cells positive for CD117, CD9, CD81, CD33, CD13, CD4, and partially for CD56, but negative for CD2 and CD25. Next-generation sequencing identified heterozygous mutations in NRAS, DNMT3A, and TP53, with no KIT mutations. Initial treatment included corticosteroids and dasatinib. The patient showed a partial response to dexamethasone but significant improvement with methylprednisolone. Upon reintroduction of dexamethasone, symptoms recurred, which improved again after resuming methylprednisolone. The patient survived for three months post-diagnosis.

Conclusion

This case highlights the potential efficacy of methylprednisolone over dexamethasone in MCL treatment. This case underscores the importance of personalized treatment approaches in MCL, considering the distinct genetic profile and differential therapeutic responses to corticosteroids. Further research is needed to elucidate the mechanisms underlying these responses and to optimize treatment strategies for MCL.
细胞白血病(MCL)是一种罕见的侵袭性系统性肥大细胞增多症,预后较差。了解MCL患者对皮质类固醇的不同治疗反应对于改善患者预后至关重要。我们报告一例74岁的中国女性原发性急性MCL患者,她对地塞米松和甲基强的松龙表现出不同的反应。患者入院时伴有持续发热、呼吸困难、严重疲劳和骨痛,同时伴有脾肿大和细胞减少。通过骨髓抽吸分析、化学染色、流式细胞术和活检证实诊断,发现非典型肥大细胞CD117、CD9、CD81、CD33、CD13、CD4阳性,部分CD56阳性,但CD2和CD25阴性。下一代测序鉴定出NRAS、DNMT3A和TP53的杂合突变,没有KIT突变。初始治疗包括皮质类固醇和达沙替尼。患者对地塞米松有部分反应,但对甲基强的松龙有明显改善。重新使用地塞米松后,症状复发,恢复使用甲基强的松龙后症状再次改善。患者在确诊后存活了三个月。结论该病例突出了甲基强的松龙治疗MCL的潜在疗效优于地塞米松。考虑到不同的遗传特征和对皮质类固醇的不同治疗反应,该病例强调了MCL个性化治疗方法的重要性。需要进一步的研究来阐明这些反应的机制并优化MCL的治疗策略。
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引用次数: 0
Tagraxofusp maintenance post-hematopoietic stem cell transplantation provides long-term survival and manageable safety for a patient with blastic plasmacytoid dendritic cell neoplasm Tagraxofusp维持后造血干细胞移植为母细胞浆细胞样树突状细胞肿瘤患者提供了长期生存和可管理的安全性
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100518
Qaiser Bashir , Marina Konopleva , Glorette Abueg , Jeremy Ramdial , Chitra Hosing , Samer A. Srour , Amin Alousi , Uday R. Popat , Yago Nieto , Gheath Alatrash , Richard E. Champlin , Elizabeth J. Shpall , Muzaffar Qazilbash , Naveen Pemmaraju
Presented here is the case of a 68-year-old woman with blastic plasmacytoid dendritic cell neoplasm (BPDCN) treated with tagraxofusp (TAG) maintenance therapy post-allogeneic hematopoietic stem cell transplantation (allo-HCT). Prior to allo-HCT, the patient was treated with hydroxyurea and mini-CVD (cyclophosphamide, vincristine, and dexamethasone alternating with methotrexate (Methotrexate) and cytarabine) + venetoclax + TAG for 5 cycles, which induced morphologic complete remission with minimal residual disease. After allo-HCT, the patient had persistent cytogenic abnormalities 45,XX,der(7)add(7)(p13)del(7)(q11.2q22)add(7)(q32),add(12)(p13),-15,del(16)(q23),-17,+22,+2mar[1]/46,XX[19], and was then treated with TAG maintenance therapy at 9 mg/kg on a 28-day cycle for 16 cycles. At mid-treatment (cycle 6 of 16 cycles of TAG) and prior to TAG discontinuation (due to travel burden), the patient was negative for minimal residual disease and was in complete remission. There was no high-grade toxicity or capillary leak syndrome. The patient remains in complete remission as of present day (>17 months CR). This is the first case study illustrating the feasibility of long-term TAG maintenance post-allo-HCT to control BPDCN.
本文报告一位68岁的女性,她患有母浆细胞样树突状细胞肿瘤(BPDCN),同种异体造血干细胞移植(alloo - hct)后接受tagraxofusp (TAG)维持治疗。在alloo - hct之前,患者接受羟基脲和mini-CVD(环磷酰胺、新碱和地塞米松与甲氨蝶呤(甲氨蝶呤)和阿糖胞苷交替治疗)+ venetoclax + TAG治疗5个周期,诱导形态完全缓解,残余疾病极小。同种异体hct后,患者持续出现细胞遗传学异常45、XX、der(7)add(7)(p13)del(7)(q11.2q22)add(7)(q32)、add(12)(p13)、-15、del(16)(q23)、-17、+22、+2mar[1]/46、XX[19],然后给予TAG维持治疗,剂量为9 mg/kg, 28天为一个周期,共16个周期。在治疗中期(16个TAG周期中的第6周期)和TAG停止之前(由于旅行负担),患者的微小残留疾病呈阴性,并且完全缓解。无严重毒性或毛细血管渗漏综合征。截至目前,患者仍处于完全缓解期(17个月CR)。这是第一个案例研究,说明了在允许hct后长期维持TAG以控制BPDCN的可行性。
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引用次数: 0
Involvement of the central nervous system in relapsed T-cell lymphoma: insights from four case studies 复发性t细胞淋巴瘤累及中枢神经系统:来自四个病例研究的见解
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100524
Radu Chiriac, Lucile Baseggio
CNS involvement in T-cell lymphoma is rare, with a 2–6 % risk of relapse. This report presents four cases of CNS relapse in aggressive T-cell lymphomas, including PTCL NOS, AITL, ALCL ALK (-), and ENKTCL. Patients experienced severe neurological symptoms, elevated CSF WBC counts, and resistance to various treatment regimens, including intrathecal HD MTX, salvage chemotherapy, and immunotherapy. Median survival was 1.5–3.5 months, highlighting the poor prognosis. The findings highlight the complexities of managing CNS relapse, the evolving understanding of prophylactic strategies, and the potential for innovative, targeted therapeutic combinations to enhance outcomes for these high-risk patients.
中枢神经系统受累于t细胞淋巴瘤是罕见的,复发的风险为2 - 6%。本文报告4例侵袭性t细胞淋巴瘤的中枢神经系统复发,包括PTCL NOS、AITL、ALCL ALK(-)和ENKTCL。患者出现严重的神经系统症状,脑脊液白细胞计数升高,并对各种治疗方案产生耐药性,包括鞘内注射HD MTX、补救性化疗和免疫治疗。中位生存期为1.5-3.5个月,预后较差。研究结果强调了控制中枢神经系统复发的复杂性,对预防策略的不断发展的理解,以及创新的靶向治疗组合的潜力,以提高这些高风险患者的预后。
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引用次数: 0
Indolent peripheral T-cell lymphoma resembling Kimura's disease: a new variant of T-cell Lymphoma? 类似木村病的惰性外周t细胞淋巴瘤:一种新的t细胞淋巴瘤变体?
IF 0.9 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100547
Hui Sun , Jia Feng , Yaping Zhang , Jianguo Zhang , Shaolei Lu , Yifei Liu
Kimura's disease (KD) is a rare chronic inflammatory disorder of unknown etiology prevalent in middle-aged Asian males. Kimura's disease transforming to T-cell lymphoma or coexisting with T-cell lymphoma have not been reported in the scientific literature except two cases of Kimura's disease resembling peripheral T-cell lymphoma morphologically. There was no corresponding entity included in the current WHO classification (5th ed., 2022). It might be a new variant of peripheral T-cell lymphoma. Here, we present the first reported case of coexisting KD and indolent peripheral T-cell lymphoma in a 55-year-old Chinese man.
木村病(KD)是一种罕见的慢性炎症性疾病,病因不明,常见于亚洲中年男性。木村病转化为t细胞淋巴瘤或与t细胞淋巴瘤共存,除两例形态学上类似外周t细胞淋巴瘤的木村病外,尚未见科学文献报道。目前的世卫组织分类(第5版,2022年)中没有相应的实体。它可能是一种新的外周t细胞淋巴瘤。在这里,我们报告了一例55岁的中国男性并发KD和惰性外周t细胞淋巴瘤的病例。
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引用次数: 0
Fatal case of disseminated toxoplasmosis following allogeneic stem cell transplantation in Singapore – a case report and review of literature 新加坡异体干细胞移植后弥散性弓形虫病致死病例报告及文献复习
IF 0.9 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100545
Jinghao Nicholas Ngiam , Thuan Tong Tan , Ban Hock Tan , Wenlu Hou , Aloysius Yew Leng Ho , Jeffrey Kim Siang Quek , Yeh Ching Linn , Francesca Lorraine Wei Inng Lim , Hein Than , Shimin Jasmine Chung
Toxoplasmosis is a rare but potentially fatal complication post-allogeneic hematopoietic stem cell transplantation (HSCT), often due to latent reactivation. In Singapore, low seroprevalence limits routine screening and prophylaxis. We report the first reported case of disseminated toxoplasmosis following HSCT in Singapore. A 58-year-old woman with fever and altered mental status two months post-transplant. She had pancytopenia, acute kidney injury, and pneumonitis, with non-specific brain MRI findings. Toxoplasma polymerase chain reaction from serum, bone marrow, and cerebrospinal fluid was positive. Despite treatment with trimethoprim-sulfamethoxazole, pyrimethamine, and sulfadiazine, she developed seizures, intracranial haemorrhage, and nosocomial infections, ultimately succumbing one month later. This case potentially highlights the consideration of routine pre-transplant Toxoplasma screening and prevention strategies, even in regions with low seroprevalence.
弓形虫病是异体造血干细胞移植(HSCT)后罕见但潜在致命的并发症,通常是由于潜在的再激活。在新加坡,低血清阳性率限制了常规筛查和预防。我们在新加坡报道首例HSCT后播散性弓形虫病病例。一名58岁女性,移植后两个月出现发热和精神状态改变。她有全血细胞减少症、急性肾损伤和肺炎,并有非特异性脑MRI发现。血清、骨髓、脑脊液弓形虫聚合酶链反应阳性。尽管接受了甲氧苄啶-磺胺甲恶唑、乙胺嘧啶和磺胺嘧啶治疗,她仍出现癫痫发作、颅内出血和院内感染,最终在一个月后死亡。该病例潜在地强调了移植前常规弓形虫筛查和预防策略的考虑,即使在血清阳性率较低的地区也是如此。
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引用次数: 0
When the mask slips: A peripheral T-cell lymphoma disguised as lupus with myelofibrosis in a patient with May-Hegglin syndrome 当面具滑落梅-赫格林综合征患者伪装成狼疮伴骨髓纤维化的外周 T 细胞淋巴瘤。
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2024.100498
V Da Silva Constante , H Couvert , A Wolfromm , M Ilzkovitz
We describe the case of a female patient with May-Hegglin syndrome who developed peripheral T-cell lymphoma not otherwise specified. The patient presents with systemic lupus erythematous phenotype and myelofibrosis secondary to T-cell lymphoma. Peripheral T-cell lymphoma not otherwise specified, represents 25 % of all peripheral T-cell lymphoma. Its diagnosis remains challenging due to the polymorphous clinical presentation and pathological heterogeneity. Myelofibrosis associated with malignant lymphomas is rare and peripheral T-cell lymphoma is even rarer. To our knowledge, this is the first case to describe an association between May-Hegglin syndrome and a peripheral T-cell lymphoma.
我们描述的情况下,女性患者与梅- hegglin综合征谁发展外周t细胞淋巴瘤没有其他规定。患者表现为系统性红斑狼疮和继发于t细胞淋巴瘤的骨髓纤维化。外周t细胞淋巴瘤,未另行说明,占所有外周t细胞淋巴瘤的25%。由于多形性临床表现和病理异质性,其诊断仍然具有挑战性。骨髓纤维化与恶性淋巴瘤相关是罕见的,周围t细胞淋巴瘤更罕见。据我们所知,这是第一例描述May-Hegglin综合征和外周t细胞淋巴瘤之间关系的病例。
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引用次数: 0
Impact of PD-1 and PD-L1 expression on treatment outcomes in newly diagnosed acute myeloid leukemia patients PD-1和PD-L1表达对新诊断急性髓性白血病患者治疗结果的影响
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100514
Ugur Calis , Merve Aydogan , Guldane Cengiz Seval , Klara Dalva , Selami Kocak Toprak
High expression of immune checkpoint markers may leukemic cells to evade the immune system in AML. This study aimed to investigate the relationship between PD-1/PD-L1 expression and treatment outcomes in AML patients.. The study included 21 patients and 18 healthy volunteers. Non-responders exhibited significantly higher PD-1 expression (MFI) in CD3+ and CD4+ T cells. At the time of diagnosis, bone marrow samples from patients exhibited a significantly higher proportion of PD-1 expression in CD3+, CD4+, and CD8+ T lymphocytes than peripheral blood samples. The results revealed an association between PD-1/PD-L1 expression and clinical traits in newly diagnosed AML patients.
免疫检查点标记的高表达可能导致白血病细胞逃避免疫系统。本研究旨在探讨AML患者PD-1/PD-L1表达与治疗结果的关系。该研究包括21名患者和18名健康志愿者。无应答者在CD3+和CD4+ T细胞中表现出更高的PD-1表达(MFI)。在诊断时,患者骨髓样本中CD3+、CD4+和CD8+ T淋巴细胞中PD-1的表达比例明显高于外周血样本。结果揭示了新诊断的AML患者的PD-1/PD-L1表达与临床特征之间的关联。
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引用次数: 0
Targeting menin for precision therapy in high-risk acute myeloid leukemia 以 Menin 为靶点,对高风险急性髓性白血病进行精准治疗。
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2024.100495
Abdur Jamil , Zaheer Qureshi , Zain Mary El-amir , Gillian Kupakuwana-Suk , Hamzah Akram , Mohsin Ahmad , Eric Huselton

Objective

This mini-review provides an overview of the current evidence for Revumenib, a first-in-class menin inhibitor, in treating AML with KMT2A rearrangements or NPM1 mutations. This therapy represents a promising advancement by selectively disrupting leukemogenic pathways.

Summary

The clinical promise of Revumenib in genetically defined AML highlights its potential role in shaping the future treatment landscape. This mini-review underscores the need for ongoing trials to define optimal dosing, safety protocols, and combination therapies, with the ultimate goal of establishing Revumenib as a standard of care for high-risk AML subsets.
目的:这篇小型综述概述了Revumenib(一种一流的menin抑制剂)治疗KMT2A重排或NPM1突变的AML的现有证据。这种疗法通过选择性地破坏白血病发生途径代表了一种有希望的进步。总结:Revumenib在基因定义AML中的临床前景突出了其在塑造未来治疗前景方面的潜在作用。这一小型综述强调了正在进行的试验以确定最佳剂量、安全方案和联合治疗的必要性,最终目标是将Revumenib建立为高风险AML亚群的标准治疗。
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引用次数: 0
Case report: Rechallenge with gilteritinib after acute pancreatitis in FLT3-positive AML 病例报告:flt3阳性AML患者急性胰腺炎后再用吉替尼治疗
IF 0.7 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100503
Taner TAN , Genco Gençdal , Ümit Barbaros Üre , Olga Meltem AKAY
{"title":"Case report: Rechallenge with gilteritinib after acute pancreatitis in FLT3-positive AML","authors":"Taner TAN ,&nbsp;Genco Gençdal ,&nbsp;Ümit Barbaros Üre ,&nbsp;Olga Meltem AKAY","doi":"10.1016/j.lrr.2025.100503","DOIUrl":"10.1016/j.lrr.2025.100503","url":null,"abstract":"","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100503"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143593398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thymic stromal lymphopoietin in leukemia: A double-edged sword? 胸腺基质淋巴生成素治疗白血病:一把双刃剑?
IF 0.9 Q4 HEMATOLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.lrr.2025.100530
Xing Zou , Mengmeng Gu , Yue Su , Dayong Yao , Hao Gang , Yang Li , Ce Shi
Thymic stromal lymphopoietin (TSLP) is a cytokine expressed by various cell types. It is involved in the development of allergies, autoimmune diseases, and cancers. TSLP affects immune responses and disease pathogenesis by binding to a heterodimeric receptor complex. In leukemia, particularly acute lymphoblastic leukemia (ALL), the importance of TSLP is being increasingly recognized. It has been shown that TSLP promotes leukemia proliferation by regulating different signaling pathways. However, it has also shown that other gene mutations can occur during this proliferative process, making it impossible to completely cure leukemia by targeting TSLP alone. Additionally, effect of TSLP on leukemia was found to be dose dependent. Whilst low doses were found to support the proliferation of leukemia cells, high doses were found to induce apoptosis in leukemia cells. This review focuses on the dual mechanisms of TSLP in leukemia, providing new insights for leukemia treatment.
胸腺基质淋巴生成素(TSLP)是一种由多种细胞类型表达的细胞因子。它与过敏、自身免疫性疾病和癌症的发展有关。TSLP通过结合异二聚体受体复合物影响免疫反应和疾病发病机制。在白血病,特别是急性淋巴细胞白血病(ALL)中,TSLP的重要性越来越被认识到。研究表明,TSLP通过调节不同的信号通路促进白血病增殖。然而,也有研究表明,在这种增殖过程中可能发生其他基因突变,这使得仅针对TSLP完全治愈白血病是不可能的。此外,发现TSLP对白血病的作用是剂量依赖性的。低剂量可促进白血病细胞增殖,高剂量可诱导白血病细胞凋亡。本文就TSLP在白血病中的双重作用机制进行综述,为白血病的治疗提供新的思路。
{"title":"Thymic stromal lymphopoietin in leukemia: A double-edged sword?","authors":"Xing Zou ,&nbsp;Mengmeng Gu ,&nbsp;Yue Su ,&nbsp;Dayong Yao ,&nbsp;Hao Gang ,&nbsp;Yang Li ,&nbsp;Ce Shi","doi":"10.1016/j.lrr.2025.100530","DOIUrl":"10.1016/j.lrr.2025.100530","url":null,"abstract":"<div><div>Thymic stromal lymphopoietin (TSLP) is a cytokine expressed by various cell types. It is involved in the development of allergies, autoimmune diseases, and cancers. TSLP affects immune responses and disease pathogenesis by binding to a heterodimeric receptor complex. In leukemia, particularly acute lymphoblastic leukemia (ALL), the importance of TSLP is being increasingly recognized. It has been shown that TSLP promotes leukemia proliferation by regulating different signaling pathways. However, it has also shown that other gene mutations can occur during this proliferative process, making it impossible to completely cure leukemia by targeting TSLP alone. Additionally, effect of TSLP on leukemia was found to be dose dependent. Whilst low doses were found to support the proliferation of leukemia cells, high doses were found to induce apoptosis in leukemia cells. This review focuses on the dual mechanisms of TSLP in leukemia, providing new insights for leukemia treatment.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"24 ","pages":"Article 100530"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722945","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
期刊
Leukemia Research Reports
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