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Treatment of a Patient with Acute Promyelocytic Leukemia with Multiple Isolated Relapses in the Central Nervous System: A Case Report and Mini-Review of the Literature. 治疗中枢神经系统多次孤立复发的急性早幼粒细胞白血病患者:病例报告和文献综述。
IF 0.7 Pub Date : 2024-05-03 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5593775
Qixin Sun, Wenyi Chen, Ahui Wang, Zili Yang, Guiping Chen, Zhigang Zhu

The efficacy of therapeutics for acute promyelocytic leukemia (APL) has exhibited an increase in recent years. Only a few patients experience relapse, including extramedullary relapse, and in patients with extramedullary relapse, the central nervous system (CNS) is the most common site. To date, there is no expert consensus or clinical guidelines available for CNS relapse, at least to the best of our knowledge. The optimal therapeutic strategy and management options for these patients remain unclear. The present study reports the treatment of a patient with APL with multiple isolated relapses in the CNS. In addition, through a mini-review of the literature, the present study provides a summary of various reports of this disease and discusses possible treatment options for these patients.

近年来,急性早幼粒细胞白血病(APL)的疗效不断提高。只有少数患者会出现复发,包括髓外复发,而在髓外复发的患者中,中枢神经系统(CNS)是最常见的部位。迄今为止,至少就我们所知,还没有针对中枢神经系统复发的专家共识或临床指南。这些患者的最佳治疗策略和管理方案仍不明确。本研究报告了一名中枢神经系统多次孤立复发的 APL 患者的治疗情况。此外,本研究还通过对文献的小型回顾,总结了有关这种疾病的各种报道,并讨论了这些患者可能的治疗方案。
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引用次数: 0
A Case of Rosai-Dorfman Disease Successfully Treated by Corticotherapy 一例通过皮质疗法成功治愈的罗赛-多夫曼病病例
IF 0.7 Pub Date : 2024-04-22 DOI: 10.1155/2024/9965038
A. Diallo, Moustapha Ndiaye, M. Seck, Mohamed Keita, E. S. Bousso, S. A. Touré, B. Faye, Saliou Diop
Rosai-Dorfman disease (RDD) is a benign histiocytic proliferation that results in nodal and extranodal involvements. It is a rare disease, with fewer than 1,000 cases reported in the literature, which explains its lack of knowledge by physicians and the lack of codified therapeutic strategies. We report the case of an 8-year-old girl who presented a rapidly progressive cervical lymph node mass; the diagnosis of RDD was made based on histology and immunohistochemistry. The patient was treated with oral corticosteroids at a dose of 1 mg/kg/d with a favorable outcome and no recurrence after one year of follow-up. This observation illustrates the clinical presentation and diagnosis of this rare clinicopathological entity. The prognosis and treatment options are also discussed.
罗赛-多夫曼病(RDD)是一种良性组织细胞增生,可导致结节和结节外受累。这种疾病非常罕见,文献报道的病例不到 1,000 例,因此医生对这种疾病缺乏了解,也没有统一的治疗策略。我们报告了一例 8 岁女孩的病例,她的颈部淋巴结肿块进展迅速,根据组织学和免疫组化诊断为 RDD。患者接受了 1 mg/kg/d 剂量的口服皮质类固醇治疗,结果良好,随访一年后未再复发。这一观察结果说明了这种罕见临床病理实体的临床表现和诊断。本文还讨论了预后和治疗方案。
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引用次数: 0
Cytomegalovirus-Induced Hemophagocytic Lymphohistiocytosis in an Immunocompromised Patient with Inflammatory Bowel Disease 一名免疫力低下的炎症性肠病患者因巨细胞病毒诱发的嗜血细胞淋巴组织细胞增多症
IF 0.7 Pub Date : 2024-04-02 DOI: 10.1155/2024/6964818
Alessandro Pedicelli, René P. Michel, Nick Krassakopoulos
Hemophagocytic lymphohistiocytosis (HLH) is a rare and often fatal syndrome of immune hyperactivation, cytokine dysregulation, and severe inflammation. This severe syndrome is commonly triggered by infection, malignancy, autoimmunity, or immunosuppression. We present herein the case of a 56-year-old-female diagnosed with HLH triggered by an acute cytomegalovirus (CMV) infection with viremia in the context of immunosuppression for inflammatory bowel disease. This case highlights the importance of utilizing multiple diagnostic tools, prompt initiation of anti-hemophagocytic treatment, and management of the underlying etiology, to prevent significant morbidity and mortality.
嗜血细胞淋巴组织细胞增多症(HLH)是一种罕见的、往往致命的免疫功能亢进、细胞因子失调和严重炎症综合征。这种严重的综合征通常由感染、恶性肿瘤、自身免疫或免疫抑制引发。我们在此介绍一例 56 岁女性患者的病例,她被诊断为 HLH,诱因是在炎症性肠病免疫抑制的背景下急性巨细胞病毒(CMV)感染并伴有病毒血症。该病例强调了利用多种诊断工具、及时开始抗嗜血细胞治疗和处理潜在病因的重要性,以防止重大的发病率和死亡率。
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引用次数: 0
Archived Cytogenetic Cell Pellets Used to Detect a BCR::ABL1 Driver Mutation Eight Years before Disease Presentation 用于检测 BCR::ABL1 驱动基因突变的存档细胞遗传学细胞颗粒在疾病出现前八年就已存在
IF 0.7 Pub Date : 2024-03-20 DOI: 10.1155/2024/2127657
Ramakrishnan Sasi, M. Spruill, Peter L. Perrotta
Evidence suggests that the earliest genetic events in the evolution of a cancer can predate diagnosis by several years or decades. In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present for an extended period before clinical disease manifests. The time between the BCR::ABL1 occurrence and symptom onset is referred to as the latency period. Though modeling studies predict this latency period is no more than ten years, it is still unclear how long it can be. We present a case of a patient referred for suspected CML. Both karyotype and FISH analysis identified the t(9;22)(q34;q11.2) translocation resulting in the Philadelphia chromosome formation in 98.5% of cells analyzed. The patient responded to imatinib and achieved a sustained complete hematologic and cytogenetic remission. Clinical history revealed that the same patient presented eight years previously with anemia. Various non-neoplastic conditions were excluded, and a bone marrow biopsy was performed to rule out MDS. Cytogenetic analysis at that time revealed del(20q) as the sole abnormality in all 20 cells analyzed. No treatment was given since the presence of isolated del(20q) is not considered evidence of MDS in the absence of diagnostic morphologic criteria. Retrospective FISH analysis of archived bone marrow pellets from this previous specimen revealed the presence of BCR::ABL1 in 1.8% of cells. A clonal population of cells harboring the BCR::ABL1 fusion was unambiguously detected in this patient’s archived bone marrow pellet obtained eight years before the current CML diagnosis. This case demonstrates that Carnoy’s fixed nuclear pellets stored in cytogenetic laboratories are suitable for detecting driver mutations years before disease presentation. Such archived material may be useful for the retrospective studies needed to better understand the initiation and subsequent development of hematological malignancies. By identifying individuals who are at increased risk, it may be possible to initiate preventive measures or begin treatment at an earlier stage before disease progression.
有证据表明,癌症演变过程中最早的基因事件可能比诊断提前数年或数十年。在慢性髓性白血病(CML)中,BCR::ABL1 融合驱动突变可在临床疾病出现之前存在较长时间。从 BCR::ABL1 发生到症状出现之间的时间称为潜伏期。虽然模型研究预测潜伏期不超过 10 年,但目前仍不清楚潜伏期会有多长。我们介绍了一例因疑似 CML 而转诊的患者。核型和 FISH 分析均发现在 98.5% 的细胞中存在 t(9;22)(q34;q11.2)易位,导致费城染色体形成。患者对伊马替尼有反应,并获得了持续的血液学和细胞遗传学完全缓解。临床病史显示,该患者八年前曾出现贫血。排除了各种非肿瘤性疾病,并进行了骨髓活检以排除 MDS。当时的细胞遗传学分析显示,在分析的所有20个细胞中,del(20q)是唯一的异常。由于在没有形态学诊断标准的情况下,孤立的 del(20q) 并不被认为是 MDS 的证据,因此没有进行治疗。对该样本存档骨髓颗粒的回顾性 FISH 分析显示,1.8% 的细胞中存在 BCR::ABL1。在该患者本次 CML 诊断前 8 年获得的存档骨髓颗粒中,明确检测到携带 BCR::ABL1 融合的克隆细胞群。该病例表明,细胞遗传学实验室中储存的卡诺伊固定核颗粒适合用于检测发病前数年的驱动基因突变。这种存档材料可能有助于进行必要的回顾性研究,以更好地了解血液恶性肿瘤的起始和后续发展。通过识别风险增加的个体,有可能在疾病进展前的较早阶段启动预防措施或开始治疗。
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引用次数: 0
Case of Circulating Tumor Cells Discovered in Extensive Deep Venous Thrombosis in a Patient with Known Urothelial Carcinoma. 已知患有尿路上皮癌的患者在广泛性深静脉血栓中发现循环肿瘤细胞的病例。
IF 0.7 Pub Date : 2024-03-09 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6144020
Ekrem Yetiskul, Ali Kimyaghalam, Shahkar Khan, Yisroel Grabie, Taqi A Rizvi, Salman Khan

Background: Currently, minimal data are available to explore the composition of venous thromboembolism in patients with cancer. This case report discusses a presentation of venous thromboembolism in a patient with high-grade urothelial carcinoma and highlights the pathology findings in thrombi. Case Presentation. A 55-year-old female who was diagnosed with high-grade urothelial carcinoma with multiple metastases developed an extensive deep vein thrombosis in her left lower extremity. Endovascular revascularization was indicated due to left lower extremity pain and swelling not responsive to anticoagulation. A mechanical thrombectomy was performed, and samples were sent for pathology. Pathologic examination discovered minute fragments of metastatic carcinoma, admixed with laminated blood clots (thrombus). The morphology of metastatic carcinoma and the immunostain profile were compatible with metastatic carcinoma of bladder origin.

Conclusion: Cancer is a well-known risk factor for developing VTEs, and it is estimated that approximately 4-20% of cancer patients will experience VTE at some stage, the rate being the highest in the initial period following diagnosis. Annually, 0.5% of cancer patients will experience thrombosis compared with a 0.1% incidence rate in the general population (Elyamany et al., 2014). Despite knowing the increased incidence of VTEs in cancer patients, there are few studies to date that analyze the composition of thrombi in patients with cancer.

背景:目前,用于探讨癌症患者静脉血栓栓塞症构成的数据极少。本病例报告讨论了一名高级别尿路上皮癌患者的静脉血栓栓塞症状,并重点介绍了血栓的病理学发现。病例介绍。一名 55 岁的女性患者被诊断为高级别尿路上皮癌并有多处转移,左下肢出现广泛的深静脉血栓。由于左下肢疼痛和肿胀,抗凝治疗无效,因此需要进行血管内再通术。医生为她进行了机械性血栓切除术,并将样本送去进行病理检查。病理检查发现了微小的转移癌碎片,并混有层状血块(血栓)。转移癌的形态和免疫染色谱与膀胱转移癌相符:据估计,约有 4-20% 的癌症患者会在某个阶段出现 VTE,确诊后初期的 VTE 发生率最高。每年有 0.5% 的癌症患者会出现血栓,而普通人群的发病率为 0.1%(Elyamany 等人,2014 年)。尽管知道癌症患者的 VTE 发生率增加,但迄今为止分析癌症患者血栓组成的研究却很少。
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引用次数: 0
A Case of Successful Allogeneic Hematopoietic Stem Cell Transplantation in a Severely Underweight Patient with Aplastic Anemia. 一例体重严重过轻的再生障碍性贫血患者成功接受异基因造血干细胞移植的病例。
IF 0.7 Pub Date : 2024-03-04 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2044820
Lilija Banceviča, Andrius Žučenka

Allogeneic hematopoietic stem cell transplantation (alloHSTC) is considered definitive and the most effective treatment for young patients diagnosed with severe aplastic anemia. Low body mass index (BMI) is known to be associated with poorer outcomes in stem cell transplantation and higher mortality risks. Malnutrition negatively affects the patient's ability to mobilize stem cells, therefore reducing patients' stem cell production, although the patient's nutritional status improvement with enteral and parenteral nutrition may reduce the risks of stem cell graft failure and graft-vs-host disease (GVHD) occurrence. The present report demonstrates a severely underweight patient with aplastic anemia and a BMI of 11 kg/m2 who was unsuccessfully treated with immunosuppressive therapy followed by alloHSTC.

异基因造血干细胞移植(alloHSTC)被认为是对确诊患有严重再生障碍性贫血的年轻患者最有效的治疗方法。众所周知,低体重指数(BMI)与较差的干细胞移植效果和较高的死亡率风险有关。营养不良会对患者动员干细胞的能力产生负面影响,从而减少患者的干细胞生成,尽管通过肠内和肠外营养改善患者的营养状况可降低干细胞移植失败和移植物抗宿主病(GVHD)发生的风险。本报告展示了一名体重严重过轻的再生障碍性贫血患者,其体重指数为11 kg/m2,在接受免疫抑制治疗后,又接受了异体干细胞移植,但治疗未获成功。
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引用次数: 0
Enhancing Efficacy and Quality of Life in Patients with Herpes Zoster Infection in Hairy Cell Leukemia. 提高毛细胞白血病带状疱疹感染患者的疗效和生活质量
IF 0.7 Pub Date : 2024-02-26 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1575161
Xiaowei Feng, Yuchen Tao, Qi Hu, Yuanxia Liu, Jizhang Bao, Wenwen Jiang

Hairy cell leukemia (HCL) is an infrequent and persistent B-cell inert lymphoid leukemia. In this study, we present the case of a 71-year-old female patient with a previous diagnosis of variant HCL who experienced a severe herpes zoster infection leading to an extensive skin eruption. The patient's initial diagnosis of HCL occurred 7 years ago, and she underwent treatment with cladribine, interferon, COP (cyclophosphamide, vincristine, and prednisone), benztropine tablets + clarithromycin dispersible, and ibrutinib. Immune disorders resulting from repeated prior chemotherapy and targeted therapy may potentially precipitate herpes zoster infection. Despite an initial two-week period of unresponsiveness to antivirals and nerve nutrition treatments, the introduction of topical Coptis liquid to the treatment regimen yielded significant efficacy. This case report underscores the potential of Chinese medicine as an adjunct to conventional antiviral therapy in the management of herpes zoster infection in immunocompromised patients. This treatment protocol has the potential to enhance efficacy, enhance quality of life, and serve as a more robust foundation for clinical diagnosis and improved treatments.

毛细胞白血病(HCL)是一种不常见的顽固性 B 细胞惰性淋巴白血病。在本研究中,我们介绍了一例曾被诊断为变异型 HCL 的 71 岁女性患者的病例,她经历了严重的带状疱疹感染,导致大面积皮肤糜烂。该患者最初被诊断为 HCL 是在 7 年前,她接受了克拉利宾、干扰素、COP(环磷酰胺、长春新碱和泼尼松)、苯佐托品片剂 + 克拉霉素分散片和伊布替尼的治疗。之前反复化疗和靶向治疗导致的免疫紊乱可能会诱发带状疱疹感染。尽管最初两周对抗病毒药物和神经营养治疗无反应,但在治疗方案中引入外用 Coptis 液体后,疗效显著。本病例报告强调了中医药作为常规抗病毒治疗的辅助手段,在治疗免疫功能低下患者带状疱疹感染方面的潜力。该治疗方案有望提高疗效、改善生活质量,并为临床诊断和改进治疗方法奠定更坚实的基础。
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引用次数: 0
A + AVD for Treatment of Hodgkin Lymphoma Variant of Richter's Transformation. A + AVD 用于治疗里希特变异霍奇金淋巴瘤。
IF 0.7 Pub Date : 2024-02-24 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7612622
Benjamin Heyman, Michael Choi, Thomas J Kipps

Hodgkin lymphoma variant of Richter's transformation (HvRT) is a rare complication for patients with chronic lymphocytic leukemia (CLL), with an overall poor prognosis. We present the first known case series of patients with HvRT treated with the combination of brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine (A + AVD). In our series of 4 patients, two patients treated with A + AVD for HvRT had durable remissions of 40 and 42 months, while two patients had disease progression and ultimately died. Continued investigation into the optimal management for patients with HvRT is still needed.

里氏变异霍奇金淋巴瘤(HvRT)是慢性淋巴细胞白血病(CLL)患者的一种罕见并发症,总体预后较差。我们首次展示了布伦妥昔单抗维多汀、多柔比星、长春新碱和达卡巴嗪(A + AVD)联合治疗 HvRT 患者的病例系列。在我们收治的 4 例患者中,两例接受 A + AVD 治疗的 HvRT 患者分别获得了 40 个月和 42 个月的持久缓解,而另两例患者则因疾病进展而最终死亡。我们仍需继续研究 HvRT 患者的最佳治疗方法。
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引用次数: 0
Isolated Central Nervous System Involvement after Brentuximab Vedotin Treatment for HIV-Positive ALK-Negative Anaplastic Large Cell Lymphoma. Brentuximab Vedotin治疗HIV阳性ALK阴性无细胞大细胞淋巴瘤后的孤立性中枢神经系统受累。
IF 0.7 Pub Date : 2024-02-22 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5534556
Takuya Suyama, Kumiko Matsui, Kosuke Makihara, Masatoshi Tsuru

Human immunodeficiency virus (HIV)-associated lymphoma poses a high mortality risk despite antiretroviral therapy (ART). Although intermediate- or high-grade B-cell lymphomas are common, anaplastic large-cell lymphomas (ALCLs) are rare and seldom affect the central nervous system (CNS). Herein, we present a case of HIV-associated ALCL with isolated CNS involvement that occurred following the discontinuation of ART that was administered after treatment with brentuximab vedotin (BV)-which does not cross the blood-brain barrier. At the time of CNS recurrence, the patient's CD4 count was 9 cells/mm3. This is the first report of CNS recurrence in HIV-associated ALCL. Considering the high risk of CNS relapse, we suggest initiating CNS prophylaxis in cases of HIV-associated ALCL, particularly in patients receiving CNS-impermeable agents such as BV.

尽管采用了抗逆转录病毒疗法(ART),人类免疫缺陷病毒(HIV)相关淋巴瘤仍有很高的致死风险。虽然中度或高度B细胞淋巴瘤很常见,但无细胞大细胞淋巴瘤(ALCL)却很罕见,而且很少累及中枢神经系统(CNS)。在此,我们介绍了一例与艾滋病毒相关的孤立性中枢神经系统受累的 ALCL,该病例发生在终止抗逆转录病毒疗法后,当时正在接受布伦妥昔单抗维多汀(BV)治疗--BV 不能透过血脑屏障。中枢神经系统复发时,患者的 CD4 细胞数为 9 cells/mm3。这是首例HIV相关ALCL中枢神经系统复发的报告。考虑到中枢神经系统复发的高风险,我们建议在HIV相关ALCL病例中启动中枢神经系统预防措施,尤其是接受BV等中枢神经系统渗透性药物治疗的患者。
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引用次数: 0
Renal Extramedullary Hematopoiesis in Mast Cell Leukemia with Bone Marrow Fibrosis 骨髓纤维化的肥大细胞白血病的肾髓外造血功能
IF 0.7 Pub Date : 2024-01-03 DOI: 10.1155/2024/3502887
D. Rieke, L. Schmalbrock, J. Ihlow, Karsten Kleo, Ann-Christin von Brünneck, Florian Nolte, Ulrich Keller, Sebastian Ochsenreither
Systemic mastocytosis is defined by the clonal proliferation of abnormal mast cells. The clinical course can range from indolent forms with normal life expectancy to advanced mast cell leukemia with dismal prognosis. An association with other diseases, including myeloproliferative neoplasia, has been described. We present a case of a 75-year patient with a history of cutaneous mastocytosis who was diagnosed with mast cell leukemia more than 9 years ago and did not receive treatment. The patient presented to our clinic with acute kidney failure because of renal extramedullary hematopoiesis. Bone marrow histopathology revealed extensive fibrosis and 50% infiltration by mast cells with a c-KIT D816V mutation. No mutations supporting primary myelofibrosis were identified. Treatment with midostaurin was started, and the patient was discharged after improvement of renal function. Here, we discuss diagnostic challenges between different forms of mast cell leukemia and overlaps with other hematological malignancies.
全身性肥大细胞增多症是指异常肥大细胞的克隆性增殖。临床病程可从预期寿命正常的轻型肥大细胞增多症到预后不良的晚期肥大细胞白血病。该病还与骨髓增生性肿瘤等其他疾病相关。我们报告了一例 75 岁的患者,他有皮肤肥大细胞增多症病史,9 年多前被诊断为肥大细胞白血病,但未接受治疗。患者因肾髓外造血而出现急性肾衰竭,遂来我院就诊。骨髓组织病理学显示,患者骨髓广泛纤维化,50%的骨髓被肥大细胞浸润,并伴有c-KIT D816V突变。未发现支持原发性骨髓纤维化的突变。患者开始接受米哚妥林治疗,肾功能改善后出院。在此,我们将讨论不同形式肥大细胞白血病之间的诊断难题以及与其他血液恶性肿瘤的重叠。
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引用次数: 0
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Case Reports in Hematology
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