ALL

萨拉病
  • 文章类型: Journal Article
    白血病患者由于其潜在疾病以及化疗治疗而经历了深刻的免疫抑制。关于该患者人群中非结核分枝杆菌(NTM)的患病率和临床表现知之甚少。我们从29,743例具有抗酸杆菌(AFB)培养的白血病患者中确定了6例NTM感染。四例有血流感染,五例有播散性疾病,其中包括一例弥漫性蜂窝织炎/肌炎的病例。所有患者在诊断时都是淋巴细胞减少症,两名患者最终死于NTM感染。NTM感染是罕见的,但白血病患者可能危及生命的感染。尽早发送AFB培养对于指导适当的抗菌治疗并允许未来的白血病定向治疗很重要。
    Patients with leukemia experience profound immunosuppression both from their underlying disease as well as chemotherapeutic treatment. Little is known about the prevalence and clinical presentation of nontuberculous mycobacteria (NTM) in this patient population. We identified six cases of NTM infection from 29,743 leukemia patients who had acid-fast bacilli (AFB) cultures. Four cases had bloodstream infections and five had disseminated disease, including one who presented with an unusual case of diffuse cellulitis/myositis. All patients were lymphopenic at time of diagnosis, and two patients ultimately died from their NTM infection. NTM infections are a rare, but potentially life-threatening infection in patients with leukemia. Sending AFB cultures early is important to direct appropriate antimicrobial therapy and allow for future leukemia-directed therapy.
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  • 文章类型: Case Reports
    高铁血红蛋白血症是一种潜在的危及生命的疾病,血红蛋白携氧能力减弱的罕见情况。我们介绍了一个3岁男孩接受T细胞急性淋巴细胞白血病(T-ALL)治疗的案例,该男孩因服用异环磷酰胺而出现高铁血红蛋白血症(MetHb57.1%)。由于他的病情危急,患者被转移至重症监护病房(ICU).治疗包括亚甲蓝给药,交换输血,儿茶酚胺输注,和类固醇。改善一般状况,可以在没有异环磷酰胺的情况下继续化疗,并完成HR2阻断。在治疗方案中使用异环磷酰胺时应广泛警惕高铁血红蛋白血症作为一种非常罕见的副作用。
    Methemoglobinemia is a potentially life-threatening, rare condition in which the oxygen-carrying capacity of hemoglobin is diminished. We present the case of a 3-year-old boy treated for T-cell acute lymphoblastic leukemia (T-ALL) who developed methemoglobinemia (MetHb 57.1%) as a side effect of ifosfamide administration. Due to his critical condition, the patient was transferred to the intensive care unit (ICU). The therapy included methylene blue administration, an exchange transfusion, catecholamine infusion, and steroids. Improving the general condition allowed for continuing chemotherapy without ifosfamide and completion of the HR2 block. Vigilance for methemoglobinemia as a very rare side effect should be widespread when using ifosfamide in the treatment protocols.
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  • 文章类型: Case Reports
    婴儿白血病是在1岁之前诊断的一种罕见形式的急性白血病,其特征是由于其对当前治疗方法的反应不佳,预后极差。它占所有儿童急性淋巴细胞白血病(ALL)病例的约4%。在ALL中孤立的初始皮肤受累并不常见,在婴儿中更是如此。
    这里,我们介绍了一个2个月大的健康婴儿的案例,最初表现为单个头皮结节,随后诊断为婴儿ALL。白血病的特征是最不成熟的B系免疫表型[pro-BALL/B-I,根据欧洲白血病免疫学表征组织(EGIL)分类]和染色体易位t(9;11)(p22;q23),导致融合基因KMTLA2::MLLT3,这被认为是一个负面的预后因素。患者接受了造血干细胞移植,目前仍处于缓解期。
    这种情况是特殊的,因为在ALL中很少发生孤立的初始皮肤受累。尽管病人的外表很健康,每一个提示恶性肿瘤的可疑症状都应进一步调查,以预测诊断并尽早开始治疗。
    UNASSIGNED: Infant leukemia is a rare form of acute leukemia diagnosed prior to the age of 1 and is characterized by an extremely poor prognosis due to its dismal response to current therapeutic approaches. It comprises about 4% of all childhood cases of acute lymphoblastic leukemia (ALL). Isolated initial cutaneous involvement in ALL is uncommon, and even more so in infant ALL.
    UNASSIGNED: Here, we present the case of a 2-month-old healthy-appearing infant, initially presenting with a single scalp nodule and subsequently diagnosed with an infant ALL. The leukemia was characterized by the most immature B-lineage immunophenotype [pro-B ALL/B-I, according to the European Group for the Immunological Characterization of Leukaemias (EGIL) classification] and chromosomal translocation t(9;11)(p22;q23), resulting in fusion gene KMTLA2::MLLT3, which is considered a negative prognostic factor. The patient underwent hematopoietic stem cell transplantation and is still in remission.
    UNASSIGNED: This case is peculiar because of the rare occurrence of isolated initial cutaneous involvement in ALL. Despite the healthy appearance of the patient, every suspicious symptom suggestive of malignancies should be further investigated to anticipate the diagnosis and start treatment early.
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  • 文章类型: Case Reports
    2019年冠状病毒病(COVID-19)大流行是一个普遍的紧急公共卫生问题。在相对较短的时间内,世界上很大一部分人口对严重急性呼吸道综合症冠状病毒2(SARS-CoV-2)感染和/或COVID-19疫苗接种有几次尖峰抗原暴露。尽管有报道称接种COVID-19疫苗后出现了零星的造血不良事件,目前没有足够的证据将抗刺突蛋白免疫应答与疫苗接种的造血不良事件相关联.我们报道了在二价mRNACOVID-19疫苗接种后发生的第一例Ph阳性B细胞急性淋巴细胞白血病(ALL)。在过去的1.5年中,原本健康的43岁女性患者总共暴露了6次尖峰抗原。提供了详细的疫苗前测试和骨髓研究结果。尽管在病例报告中无法确定二价疫苗接种与随后Ph阳性B细胞ALL发展之间的因果关系,我们认为抗刺突蛋白免疫反应可能是白血病的触发因素.临床医生必须密切调查COVID-19疫苗接种后的造血不良事件。需要进一步的临床前研究来调查二价mRNACOVID-19疫苗的安全性。
    The coronavirus disease 2019 (COVID-19) pandemic is a universal emergency public health issue. A large proportion of the world\'s population has had several spike antigen exposures to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and/or COVID-19 vaccinations in a relatively short-term period. Although sporadic hematopoietic adverse events after COVID-19 vaccine inoculation were reported, there is currently no sufficient evidence correlating anti-spike protein immune responses and hematopoietic adverse events of vaccinations. We reported the first case of Ph-positive B-cell acute lymphoblastic leukemia (ALL) occurring after a bivalent mRNA COVID-19 vaccine inoculation. The otherwise healthy 43-year-old female patient had a total of six spike antigen exposures in the past 1.5 years. Informative pre-vaccine tests and bone marrow study results were provided. Although the causal relationship between bivalent vaccinations and the subsequent development of Ph-positive B-cell ALL cannot be determined in the case report, we propose that anti-spike protein immune responses could be a trigger for leukemia. Clinicians must investigate the hematopoietic adverse events closely after COVID-19 vaccinations. Further pre-clinical studies to investigate the safety of bivalent mRNA COVID-19 vaccine are required.
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  • 文章类型: Letter
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  • 文章类型: Case Reports
    聚乙二醇化(PEG)-天冬酰胺酶是急性淋巴细胞白血病的既定治疗方法,通过消耗天冬酰胺表现出抗肿瘤作用,白血病细胞蛋白质合成所必需的氨基酸。伴有高甘油三酯血症的胰腺炎是与PEG-天冬酰胺酶相关的公认的毒物。然而,由于PEG-天冬酰胺酶胰腺炎,胰腺合成功能和激素释放受损的报道很少.在这份报告中,我们介绍了一名22岁的女性,最近被诊断患有T急性淋巴细胞白血病(T-ALL),他以渐进的弱点出现在医院,混乱,视力模糊,幻觉,柔红霉素诱导治疗后腹痛,长春新碱,PEG-天冬酰胺酶,和地塞米松遵循AYA方案。她被发现患有高甘油三酯血症,急性胰腺炎,和高渗性高血糖综合征。虽然胰腺炎和高甘油三酯血症是PEG-天冬酰胺酶的常见副作用,与这些情况有关的HHS报告很少。提供者应保持对这种关联的认识,并考虑对接受PEG-天冬酰胺酶的患者进行常规连续血糖监测。
    Pegylated (PEG)-asparaginase is an established treatment for acute lymphoblastic leukemias that exhibits an antitumor effect by depleting asparagine, an amino acid essential for leukemia cell protein synthesis. Pancreatitis with hypertriglyceridemia is a well-established toxidrome associated with PEG-asparaginase. However, impaired pancreatic synthetic function and hormone release have rarely been reported as a result of PEG-asparaginase pancreatitis. In this report, we present a 22-year-old woman recently diagnosed with T-acute lymphoblastic leukemia (T-ALL), who presented to the hospital with progressive weakness, confusion, blurry vision, hallucinations, and abdominal pain after induction treatment with daunorubicin, vincristine, PEG-asparaginase, and dexamethasone following the AYA protocol. She was found to have hypertriglyceridemia, acute pancreatitis, and hyperosmolar hyperglycemic syndrome. While pancreatitis and hypertriglyceridemia are commonly reported side effects of PEG-asparaginase, HHS related to these conditions has been sparsely reported. Providers should maintain awareness of this association and consider routine serial glucose monitoring of patients receiving PEG-asparaginase.
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  • 文章类型: Case Reports
    急性淋巴细胞白血病(ALL)是一种血液系统癌症,始于骨髓并导致淋巴细胞过度产生。它可以表现为明显的紫癜,这在许多其他病理中也可以看到,包括血管炎,如IgA血管炎。我们介绍了一例52岁的男性,他从外部设施专门用于血浆置换,以治疗先前诊断的IgA血管炎。在被录取接受进一步评估后,值得注意的是,患者双侧有弥漫性点状非白斑性紫癜性皮疹,覆盖下肢,树干,上肢,和舌头。患者还被发现患有严重的全血细胞减少症。荧光原位杂交(FISH)证明了t(9:22)的存在,表明费城染色体重排。患者被诊断为ALL。患者接受了诱导化疗,并继续接受超CVAD方案和鞘内化疗。患者似乎对治疗反应良好,目前正在接受随后的间歇性化疗。在这种情况下,B细胞ALL(B-ALL)爆炸危机的诊断对于为该患者提供正确的治疗至关重要,该病例表明,即使在这种具有罕见突变的人群中,B-ALL的罕见表现也对酪氨酸激酶抑制剂反应强烈。
    Acute lymphoblastic leukemia (ALL) is a hematologic cancer that begins in the bone marrow and results in an overproduction of lymphocytes. It can present as palpable purpura, which is also seen in many other pathologies, including vasculitides such as IgA vasculitis. We present a case of a 52-year-old male who presented to our hospital from an outside facility specifically for plasma exchange for treating a previously diagnosed IgA vasculitis. After being admitted for further evaluation, it was noted that the patient had a diffuse petechial non-blanching purpuric rash bilaterally covering the lower extremities, trunk, upper extremities, and tongue. The patient was also noted to have severe pancytopenia. Fluorescence in situ hybridization (FISH) demonstrated the presence of t(9:22), indicating Philadelphia chromosome rearrangement. The patient was diagnosed with ALL. The patient underwent induction chemotherapy and was continued on hyper-CVAD protocol with intrathecal chemotherapy. The patient appeared to respond well to treatment and is currently undergoing subsequent intermittent chemotherapy. In this case, the diagnosis of B-cell ALL (B-ALL) blast crisis was pivotal in providing the correct therapy to this patient, and the case demonstrated that even rare presentations of B-ALL in this population with rare mutations responds avidly to tyrosine kinase inhibitors.
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  • 文章类型: Journal Article
    UNASSIGNED:探讨5-甲基胞嘧啶(m5C)修饰相关编码基因的多态性在小儿急性淋巴细胞白血病(ALL)易感性中的作用。
    UNASSIGNED:进行病例对照研究和多项logistic回归分析,以构建评估小儿ALL易感性的模型。分析m5C修饰编码基因中5个功能性SNP与小儿ALL风险的关系。使用TaqMan测定法鉴定了来自华南地区的808例病例和1,340例健康样本的基因分型;计算比值比(ORs)和95%置信区间(CIs)以估计五个选定的SNP与小儿ALL易感性之间的关系。
    未经评估:在五个分析的SNP中,NOL1rs3764909和NSUN4rs10252变异显著增加了小儿ALL的易感性,而NSUN3rs7653521、NSUN5rs1880948和NSUN6rs3740102变体与ALL的风险无关。分层分析表明,NOL1rs3764909C>A与普通BALL亚组儿科ALL风险增加显著相关,pre-Ball,T细胞全部,中低风险,其他基因融合类型,非基因融合,亚二倍体,正常二倍体,诱导治疗后第12周骨髓原始淋巴细胞<5%,第12周微小残留病(MRD)<0.01%;NSUN4rs10252G>A与年龄≥120个月的亚组中ALL儿童的风险增加有关,正常白细胞(WBC)数,中等风险,非基因融合,诱导治疗后第15-19天MRD≥0.01,第33天骨髓原始淋巴细胞<5%。与参考单倍型CAGTA相比,携带CCGTG和ACATA单倍型的儿童与ALL易感性增加显著相关.rs3764909和rs10252等位基因变种与所选择的化学疗法后的MRD水平无关。
    未经批准:总而言之,NOL1rs3764909和NSUN4rs10252变异体因小儿ALL风险而增强,并被认为是小儿ALL的潜在生物标志物。
    UNASSIGNED: To explore the functions of the polymorphisms in 5-methylcytosine (m5C) modification-related coding genes on the susceptibility of pediatric acute lymphoblastic leukemia (ALL).
    UNASSIGNED: Case-control study and multinomial logistic regression analysis were performed to construct models to evaluate the susceptibility of pediatric ALL. The relationship between five functional SNPs in m5C modification-coding genes and pediatric ALL risk was analyzed. Genotyping of 808 cases and 1,340 healthy samples from South China was identified using a TaqMan assay; odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the relationship between the five selected SNPs and pediatric ALL susceptibility.
    UNASSIGNED: Among the five analyzed SNPs, NOL1 rs3764909 and NSUN4 rs10252 variants significantly increased the susceptibility of pediatric ALL, while NSUN3 rs7653521, NSUN5 rs1880948, and NSUN6 rs3740102 variants were not associated with the risk of ALL. Stratification analyses demonstrated that NOL1 rs3764909 C>A exhibited a significant association with increased pediatric ALL risk in subgroups of common B ALL, pre-B ALL, T-cell ALL, low and middle risk, other gene fusion types, non-gene fusion, hypodiploid, normal diploid, primitive lymphocytes in marrow < 5% on week 12, and minimal residual disease (MRD) <0.01% on week 12 after induced therapy; NSUN4 rs10252 G>A was related to increased risk of ALL children in subgroups of age ≥ 120 months, normal white blood cell (WBC) number, middle risk, non-gene fusion, MRD ≥ 0.01 on days 15-19, and primitive lymphocytes in marrow < 5% on day 33 after induced therapy. Compared with the reference haplotype CAGTA, children who harbored haplotypes CCGTG and ACATA were remarkably related to increased ALL susceptibility. rs3764909 and rs10252 varieties of alleles were not associated with MRD levels after the selected chemotherapeutics.
    UNASSIGNED: In conclusion, NOL1 rs3764909 and NSUN4 rs10252 variants were enhanced by pediatric ALL risk and were suggested to be potential biomarkers for pediatric ALL.
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  • 文章类型: Case Reports
    急性B淋巴细胞白血病(B-ALL)在临床实践中经常遇到。患者骨髓和/或外周血中淋巴母细胞的百分比增加。通过流式细胞术或免疫组织化学进行免疫表型研究对于建立诊断至关重要。配对box-5(PAX5)是一种B细胞谱系蛋白,末端脱氧核苷酸转移酶(TDT)是一种未成熟标记,这两种方法在急性白血病的病理检查中都有常规检测。在这份报告中,我们描述了一例37岁女性的B-ALL病例,其中PAX5和TDT均为阴性.下一代测序检测DNA甲基转移酶3α和Fms相关受体酪氨酸激酶3基因突变,在急性髓细胞性白血病而不是B-ALL中经常发生突变。在单个病例中这些罕见发现的星座表明,当怀疑诊断ALL时,检查广泛的标记物的重要性。
    B-acute lymphoblastic leukemia (B-ALL) is commonly encountered in clinical practice. Patients present with increased percentage of lymphoblasts in bone marrow and/or peripheral blood. Immunophenotypic study by flow cytometry or immunohistochemistry is essential to establish the diagnosis. Paired box-5 (PAX5) is a B cell lineage protein and terminal deoxynucleotidyl transferase (TDT) is an immature marker, both of which are routinely tested in the pathologic workup of acute leukemia. In this report, we describe a case of B-ALL in a 37-year-old woman in which both PAX5 and TDT were negative. Next-generation sequencing test detected mutations in DNA methyltransferase 3 α and Fms related receptor tyrosine kinase 3 genes, which are frequently mutated in acute myeloid leukemia rather than B-ALL. The constellation of these rare findings in a single case signifies the importance of examining a wide panel of markers when the diagnosis of ALL is suspected.
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  • 文章类型: Case Reports
    母细胞性浆细胞样树突状细胞肿瘤(BPDCN)是一种侵袭性血液恶性肿瘤,罕见且预后不良。通常,它表现为皮肤浸润,然后传播,只有10%可能首先表现为骨髓(BM)浸润。在临床和病理上与急性髓系白血病(AML)和急性淋巴细胞白血病(ALL)具有重叠特征,有许多疾病需要与之鉴别诊断。治疗BPDCN没有共识,但是在该领域出现了一些新的疗法来治疗这类患者。47岁男性糖尿病病例报告,提交给曼苏拉大学肿瘤学中心血液科,前额附近前部的头皮肿块升高,皮肤和面部水肿上覆压力坏死,背部有类似的病变。颈部和腹股沟淋巴结肿大。皮肤活检显示单样中型囊样细胞浸润,染色质很好,细胞质很少,环状延伸,也没有检测到表皮性。免疫组织化学显示CD4,CD56和BCL2的弥漫性膜免疫反应性。Ki-67增殖指数约为90%。CD117,MPO,CD34,CD20,CD5,CD3,ALK,CD79a,CD30在肿瘤细胞中显示阴性免疫反应性。BM检查显示80%的大胚细胞浸润,具有嗜碱性细胞质和良好的染色质。多色流式细胞术(MCF)显示低CD45表达(位于爆炸袋)和阳性CD123,CD56谱(中度至阴性),小CD4、CD43、部分小CD33、CD38、CD81和部分CD36(主要为阴性),对小组的其他部分是负面的。患者接受Hyper-CVAD方案(环磷酰胺,硫酸长春新碱,盐酸多柔比星,地塞米松)和皮肤病变在第1周期化疗后显示出惊人的反应。BM和FDG-PET/CT评价无异常细胞浸润。现在,他正在完成化疗,并计划进行同种异体干细胞移植(SCT)。这类病例的诊断和处理从发病之初就在各个层面上都具有挑战性,通过诊断的步骤,最后在选择合适的治疗方案。我们建议基于ALL的化疗方案,尤其是Hyper-CVAD,然后是同种异体SCT,以获得更好的反应和总体生存率。
    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive hematological malignancy with a rare incidence with poor outcome. Usually, it presents by skin infiltration then dissemination and only 10% may present first by bone marrow (BM) infiltration. It has overlapping features with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) clinically and pathologically, and there are many diseases to be differentially diagnosed from them. There is no consensus for treating BPDCN, but there are some novel therapies that have emerged in the field for treating this group of patients. A case report of 47-year-old diabetic male, presented to the hematology unit of Oncology Center of Mansoura University with a large, elevated scalp mass on the anterior part near the forehead with overlying pressure necrosis of the skin and face edema and with similar lesions on the back. There were enlarged cervical and inguinal lymph nodes. Skin biopsy revealed infiltration by monomorphous medium-sized blastoid cells, with fine chromatin and scanty cytoplasm, pannicular extension, and no detected epidermotropism. Immunohistochemistry revealed diffuse membranous immunoreactivity for CD4, CD56, and BCL2. Ki-67 proliferation index was about 90%. CD117, MPO, CD34, CD20, CD5, CD3, ALK, CD79a, and CD30 showed negative immunoreactivity in the tumor cells. BM examination showed infiltration by 80% large blastoid cells with basophilic cytoplasm and fine chromatin. Multi-color-flowcytometry (MCF) revealed low CD45 expression (located in the blast pocket) and positive CD123, a spectrum of CD56 (moderate to negative), dim CD4, CD43, partial dim CD33, CD38, CD81, and partial CD36 (predominantly negative), and was negative for the rest of the panel. The patient received Hyper-CVAD protocol (cyclophosphamide, vincristine sulfate, doxorubicin hydrochloride, and dexamethasone) and skin lesions showed marvelous response after 1st cycle of chemotherapy. BM and FDG -PET/CT evaluation was free from abnormal cell infiltration. Now he is completing his chemotherapy and planned for allogenic stem cell transplantation (SCT). The diagnosis and management of such cases are challenging at all levels from the beginning of the disease, through the steps of diagnosis and finally in choosing the appropriate treatment protocol. We recommend ALL-based chemotherapy protocols especially Hyper-CVAD then allogenic SCT for better response and overall survival.
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