burkitt lymphoma

伯基特淋巴瘤
  • 文章类型: Case Reports
    Breast lymphomas are rare, malignant breast neoplasms with a heterogeneous pattern of clinical symptoms. Burkitt\'s lymphoma is a rare, highly aggressive, and rapidly growing B-cell non-Hodgkin lymphoma. We report about a 27-year-old woman diagnosed as having secondary breast Burkitt\'s lymphoma, probably originating from the stomach, with multiple distant metastases. Breast ultrasonography revealed multiple, variable sized, heterogeneous masses with posterior acoustic enhancement and echogenic rims. These imaging findings may sometimes overlap with those of other breast malignancies. However, unlike other breast malignancies, lymphoma can be diagnosed by biopsy and does not require surgical excision. To avoid unnecessary treatment, radiologists and clinicians should be aware of the characteristic imaging features of breast lymphomas.
    유방 림프종은 희귀한 유방 악성 종양으로 임상 증상과 경과가 이질적인 패턴을 보인다. 그 중 버킷 림프종은 매우 드물고, 공격적이며 빠르게 성장하는 B세포 비호지킨 림프종이다. 우리는 위에서 시작된 것으로 추정되고, 여러 부위의 전이를 동반한 이차성 유방 버킷 림프종으로 진단받은 27세 여성의 사례를 보고한다. 유방 초음파상에서 후방 음영 증가와 에코성 띠를 포함한 다양한 크기의 비균질한 병변으로 관찰되었다. 이러한 영상 소견은 종종 다른 유방의 악성 종양 소견과 혼동될 수 있다. 그러나 다른 유방 악성 종양과 달리 림프종은 생검을 통해 진단할 수 있으며 외과적 절제가 필요하지 않다. 불필요한 치료를 피하기 위해서 영상의학과 전문의와 임상의는 유방 림프종의 특징적인 영상학적 특징을 알아야 한다.
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  • 文章类型: Case Reports
    伯基特淋巴瘤是一种侵袭性B细胞非霍奇金淋巴瘤(NHL)。原发性中枢神经系统淋巴瘤(PCNSL)是一种罕见的疾病,而伯基特淋巴瘤的亚型表现为唯一的中枢神经系统病变是一个更罕见的诊断。急性突然失明通常是PCNSL或NHL的罕见症状。我们介绍了一个有趣的案例,该案例是一个四岁男孩的畸形特征,其视觉检查显示双侧视力突然丧失。双侧眼突出和完全上睑下垂。眼外肌直线固定。瞳孔固定,双侧中度扩张,双眼均有3/4级乳头水肿。神经影像显示颅底有肿块,延伸到轨道和鼻窦。对肿大的淋巴结进行了宫颈活检,并进行了伯基特淋巴瘤的组织病理学诊断。遗传分析显示GNB1突变,病人被儿科医生诊断为歌舞uki综合征,基于特征的变形特征。开始用类固醇和化疗进行治疗。
    Burkitt lymphoma is an aggressive B-cell non-Hodgkin lymphoma (NHL). Primary CNS lymphoma (PCNSL) is a rare disease, and the subtype of Burkitt lymphoma presenting as a sole CNS lesion is an even rarer diagnosis. Acute sudden blindness is a rare presenting symptom of PCNSL or NHL in general. We present an interesting case of a four-year-old boy with dysmorphic features whose visual examination showed a sudden bilateral loss of vision. There was bilateral eye proptosis and complete ptosis. Extraocular muscles were fixed straight. The pupils were fixed and mid dilated bilaterally and there was grade 3/4 papilledema in both eyes. Neuroimaging showed a mass in the base of the skull, extending to orbits and sinuses. A cervical biopsy of the enlarged lymph nodes was taken and a histopathological diagnosis of Burkitt lymphoma was made. Genetic analysis showed a GNB1 mutation, and the patient was diagnosed with Kabuki syndrome by a pediatrician, based on characteristic dysmorphic features. Treatment with steroids and chemotherapy was initiated.
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  • 文章类型: Case Reports
    伯基特淋巴瘤是一种非霍奇金B细胞淋巴瘤,在儿科人群中患病率很高。腹部表现在散发性Burkitt淋巴瘤中是众所周知的,从非特异性症状到肠套叠引起的肠梗阻各有不同;然而,几乎没有描述过块状脾受累。
    目的:介绍一例脾肿块患者,其组织病理学分析显示Burkitt淋巴瘤。
    方法:一名13岁女性患者出现腹痛,逐步减肥,和发烧。影像学检查显示有脾肿块,肠增厚,和回肠肠套叠.脾活检的组织病理学分析显示Burkitt淋巴瘤。第一周期化疗(BFM95-NHL方案)后,腹部症状得到缓解;没有观察到其他提示肠套叠的体征,以及观察到脾质量显着减少。
    结论:Burkitt淋巴瘤在儿科患者中可以表现为明确的脾肿瘤,不会导致脾肿大.此外,它的管理不需要手术,因为它可以通过化疗解决。
    Burkitt lymphoma is a non-Hodgkin B-cell lymphoma with a high prevalence in the pediatric population. Abdominal manifestations are well known in sporadic Burkitt lymphoma and vary from nonspecific symptoms to intestinal obstruction due to intussusception; however, mass-like splenic involvement has been scarcely described.
    OBJECTIVE: To present a case of a patient with a splenic mass whose histopathological analysis revealed Burkitt lymphoma.
    METHODS: A 13-year-old female patient presented with abdominal pain, progressive weight loss, and fever. Imaging studies showed a splenic mass, intestinal thickening, and ileal intussusception. Histopathological analysis of spleen biopsy revealed Burkitt lymphoma. After the first cycle of chemotherapy (BFM95-NHL protocol), abdominal symptoms resolved; no other signs suggestive of intussusception were observed, as well as a significant reduction of the splenic mass was observed.
    CONCLUSIONS: Burkitt lymphoma in pediatric patients can present as a well-defined splenic tumor, causing no splenomegaly. In addition, its management does not require surgery since it can be resolved with chemotherapy.
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  • 文章类型: Journal Article
    肥胖与癌症风险增加有关,然而,潜在的机制仍然难以捉摸。肥胖相关癌症涉及代谢和细胞通路的破坏,这可能导致基因组不稳定。能够采用替代DNA结构的重复DNA序列(例如,H-DNA)刺激突变,并在人类癌症基因组中的突变热点处富集。然而,目前尚不清楚肥胖是否影响DNA重复介导的内源性突变热点.我们通过测量携带对照人B-DNA-或H-DNA形成序列(来自伯基特淋巴瘤中c-MYC的易位热点)的肥胖和正常体重转基因报告小鼠的突变频率来解决这一差距。这里,我们发现H-DNA诱导的DNA损伤和突变以组织特异性的方式升高,与对照饮食相比,肥胖小鼠的DNA修复效率降低。这些发现阐明了肥胖对癌症相关内源性突变热点的影响。提供对肥胖和癌症之间联系的机械洞察。
    Obesity is associated with increased cancer risk, yet the underlying mechanisms remain elusive. Obesity-associated cancers involve disruptions in metabolic and cellular pathways, which can lead to genomic instability. Repetitive DNA sequences capable of adopting alternative DNA structures (e.g., H-DNA) stimulate mutations and are enriched at mutation hotspots in human cancer genomes. However, it is not known if obesity impacts DNA repeat-mediated endogenous mutation hotspots. We address this gap by measuring mutation frequencies in obese and normal-weight transgenic reporter mice carrying either a control human B-DNA- or an H-DNA-forming sequence (from a translocation hotspot in c-MYC in Burkitt lymphoma). Here, we discover that H-DNA-induced DNA damage and mutations are elevated in a tissue-specific manner, and DNA repair efficiency is reduced in obese mice compared to those on the control diet. These findings elucidate the impact of obesity on cancer-associated endogenous mutation hotspots, providing mechanistic insight into the link between obesity and cancer.
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  • 文章类型: Journal Article
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  • 文章类型: English Abstract
    To summarize the clinical features and prognosis of pediatric mature B-cell non-Hodgkin lymphoma (mB-NHL) with digestive tract perforation. The clinical manifestations, laboratory and imaging examinations, treatment and outcomes of mB-NHL children complicated with digestive tract perforation admitted to Beijing Children\'s Hospital of Capital Medical University from January 2016 to June 2023 were retrospectively analyzed. A total of 12 patients were included, with 11 males and 1 female, aged 0.8-16.0 (7.5±5.4) years. Among them, there were 10 cases of Burkitt lymphoma, 1 case of high-grade B-cell lymphoma (HGBL) and 1 case of diffuse large B-cell lymphoma (DLBCL), respectively. Intestinal involvement was involved in all cases, with St.Jude staging ranging from stage Ⅲ to Ⅳ. Eleven cases had large abdominal mass. In 7 cases, abdominal X-ray examination showed free gas under the diaphragm. Eleven cases experienced digestive tract perforation after chemotherapy, and the time of perforation after initiation of chemotherapy was 2.0-111.0 (41.2±33.6) days. The most common site of perforation was ileum (6 cases), followed by gastric wall (2 cases), jejunum (1 case), colon (1 case) and appendix (1 case). Eight patients underwent surgery, and the time between surgery and re-chemotherapy was 7.0-45.0 (17.6±12.0) days. One case with perforation before chemotherapy died after giving up treatment. The remaining 11 cases received conservative treatment or surgical intervention, followed by regular chemotherapy after symptom and infection control. The follow-up time was 6.0-82.0 (45.0±26.1) months, and all survived.
    总结儿童成熟B细胞非霍奇金淋巴瘤(mB-NHL)合并消化道穿孔的临床特点和预后。回顾性分析2016年1月至2023年6月首都医科大学附属北京儿童医院收治的合并消化道穿孔的mB-NHL患儿的临床表现、实验室及影像学检查、治疗及转归。共纳入12例患儿,男11例,女1例,年龄0.8~16.0(7.5±5.4)岁。其中,伯基特淋巴瘤10例,高级别B细胞淋巴瘤(HGBL)和弥漫大B细胞淋巴瘤(DLBCL)各1例。所有患儿均存在肠道受累,St.Jude分期为Ⅲ~Ⅳ期,11例患儿均存在腹腔巨大包块;7例患儿消化道穿孔时全腹立位X片提示膈下游离气体;11例患儿于化疗后出现消化道穿孔,穿孔距离首次化疗时间为2.0~111.0(41.2±33.6)d;穿孔好发部位依次为回肠(6例)、胃壁(2例)、空肠(1例)、结肠(1例)、阑尾(1例)。8例患儿行手术治疗,术后距离再次化疗的时间为7.0~45.0(17.6±12.0)d。1例化疗前穿孔患儿放弃治疗后死亡;余11例患儿予保守治疗或外科手术干预,症状及感染控制后给予规律化疗,随访时间6.0~82.0(45.0±26.1)个月,均存活。.
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  • 文章类型: Journal Article
    ITK突变引起的原发性免疫缺陷的淋巴增殖性疾病比较罕见,及时诊断是改善原发性免疫缺陷病的结局并降低其病死率的重要因素。本文报道1例罕见的ITK杂合突变的原发性免疫缺陷的患儿,腹股沟肿块及颈部淋巴结活检提示Burkitt淋巴瘤及淋巴增殖性疾病。临床特征表现为全身淋巴结肿大、严重的EB病毒感染、CD4+T细胞持续减少、双阴性T细胞增加、IgG水平升高、血小板及中性粒细胞减少、低纤维蛋白原血症及高γ球蛋白血症。此病例具有自身免疫性淋巴细胞增生综合征样疾病的临床表现及实验室特征。.
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  • 文章类型: Journal Article
    背景:伯基特淋巴瘤(BL)是一种与恶性疟原虫和EB病毒相关的侵袭性非霍奇金淋巴瘤,两者都会影响代谢途径。BL的代谢组学模式未知。
    方法:我们使用液相色谱-串联质谱法测定了来自乌干达东非儿童和未成年人Burkitt淋巴瘤流行病学研究的25名男性儿童(6-11岁)和25名无癌区域和年龄频率匹配的男性对照的化疗前血浆样本中的627种代谢物。无条件,使用年龄调整的逻辑回归分析来估计与对数代谢物浓度增加1个标准偏差的BL关联的比值比(ORs)及其95%置信区间(CIs),使用错误发现率(FDR)阈值和Bonferroni校正来调整多重比较。
    结果:与对照组相比,BL病例中42种代谢物浓度的水平不同(FDR<0.001),包括三酰甘油酯(18:0_38:6),α-氨基丁酸(AABA),神经酰胺(d18:1/20:0),磷脂酰胆碱C40:6和磷脂酰胆碱C38:6作为与BL相关的顶部信号(OR=6.9至14.7,P<2.4×10-4)。使用逐步逻辑回归选择的两种代谢物(三酰甘油酯(18:0_38:6)和AABA)将BL病例与对照组区分开,曲线下面积为0.97(95%CI:0.94,1.00)。
    结论:我们的发现需要进一步检查血浆代谢物作为BL风险/诊断的潜在生物标志物。
    BACKGROUND: Burkitt lymphoma (BL) is an aggressive non-Hodgkin lymphoma associated with Plasmodium falciparum and Epstein-Barr virus, both of which affect metabolic pathways. The metabolomic patterns of BL is unknown.
    METHODS: We measured 627 metabolites in pre-chemotherapy treatment plasma samples from 25 male children (6-11 years) with BL and 25 cancer-free area- and age-frequency-matched male controls from the Epidemiology of Burkitt Lymphoma in East African Children and Minors study in Uganda using liquid chromatography-tandem mass spectrometry. Unconditional, age-adjusted logistic regression analysis was used to estimate odds ratios (ORs) and their 95% confidence intervals (CIs) for the BL association with 1-standard deviation increase in the log-metabolite concentration, adjusting for multiple comparisons using false discovery rate (FDR) thresholds and Bonferroni correction.
    RESULTS: Compared to controls, levels for 42 metabolite concentrations differed in BL cases (FDR < 0.001), including triacylglyceride (18:0_38:6), alpha-aminobutyric acid (AABA), ceramide (d18:1/20:0), phosphatidylcholine ae C40:6 and phosphatidylcholine C38:6 as the top signals associated with BL (ORs = 6.9 to 14.7, P < 2.4✕10- 4). Two metabolites (triacylglyceride (18:0_38:6) and AABA) selected using stepwise logistic regression discriminated BL cases from controls with an area under the curve of 0.97 (95% CI: 0.94, 1.00).
    CONCLUSIONS: Our findings warrant further examination of plasma metabolites as potential biomarkers for BL risk/diagnosis.
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  • 文章类型: Journal Article
    背景:尽管在高收入国家(HIC)治疗小儿伯基特淋巴瘤(BL)取得了良好的效果,低收入和中等收入国家(LMICs)的结果仍然很差。坦桑尼亚改善BL结果的努力包括在2016年制定了《国民待遇指南》。然而,迄今为止,坦桑尼亚在制定这些指南后的疾病结局尚未报告.
    方法:2016年至2021年在Bugando医学中心(BMC)看到的0-18岁诊断为BL的患者的历史记录,在姆万扎,坦桑尼亚,被编入电子数据库并进行描述性分析。该队列中的患者根据坦桑尼亚国家治疗指南接受治疗,其中包括六个环磷酰胺周期,长春新碱,甲氨蝶呤(COM)鞘内注射甲氨蝶呤和阿糖胞苷化疗。
    结果:总计,92例BL患者记录符合分析条件。该队列中的患者最常见的是MurphyII期(28%)或III期(34%)。几乎所有,91%,在演示时符合国际癌症治疗和研究网络(INCTR)高风险标准。42%的患者未接受活检,仅接受了BL的假定诊断。观察到1年无事件生存率为29.6%(95%置信区间[CI]:20.3%-39.5%),1年总生存率为38.5%(95%CI:28%-48.9%)。还观察到高的治疗放弃率(34%)。
    结论:在根据2016年坦桑尼亚国家治疗指南治疗的BL儿科患者的历史队列中,我们观察到不良结局和高放弃率.这些结果似乎不如在INCTR临床试验中获得的结果,该临床试验告知了指南的创建,并强调了“现实世界”结果数据在低收入国家中的重要性。这些数据强化了这样一种观点,即持续的临床研究和能力建设努力对于改善LMIC的BL结果是必要的。
    BACKGROUND: Despite the excellent outcomes achieved in the treatment of pediatric Burkitt lymphoma (BL) in high-income countries (HICs), outcomes remain poor in low- and middle-income countries (LMICs). Efforts to improve BL outcomes in Tanzania included the creation of National Treatment Guidelines in 2016. However, disease outcomes in Tanzania following the creation of these guidelines have not been reported to date.
    METHODS: Historical records from 2016 to 2021 for patients 0-18 years of age with a diagnosis of BL and seen at Bugando Medical Centre (BMC), in Mwanza, Tanzania, were curated into an electronic database and analyzed descriptively. Patients in this cohort were treated per the Tanzanian National Treatment Guidelines, which include six cycles of cyclophosphamide, vincristine, and methotrexate (COM) chemotherapy with intrathecal methotrexate and cytarabine.
    RESULTS: In total, 92 BL patients\' records were eligible for analysis. Patients in this cohort were most commonly Murphy stage II (28%) or stage III (34%). Nearly all, 91%, met International Network for Cancer Treatment and Research (INCTR) high-risk criteria at presentation. Forty-two percent of patients did not receive a biopsy and were treated with a presumed diagnosis of BL alone. A 1-year event-free survival of 29.6% (95% confidence interval [CI]: 20.3%-39.5%) and a 1-year overall survival of 38.5% (95% CI: 28%-48.9%) were observed. A high rate of treatment abandonment (34%) was also observed.
    CONCLUSIONS: In a historical cohort of pediatric patients with BL treated per the 2016 Tanzanian National Treatment Guidelines, we observed poor outcomes and a high rate of abandonment. These outcomes appear inferior to those achieved in the INCTR clinical trial that informed the guidelines\' creation, and highlights the importance of \"real-world\" outcomes data in LMICs. These data reinforce the idea that continued clinical research and capacity building efforts are necessary to improve BL outcomes in LMICs.
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  • 文章类型: Journal Article
    目的:在2022年6月之前,加纳伯基特淋巴瘤(BL)的治疗费用主要由儿童的家人或照顾者承担。我们确定了儿童BL的治疗费用及其对父母和照顾者的心理影响。
    方法:这项前瞻性观察性研究使用费用日记评估了连续6个月治疗儿童BL期间发生的直接医疗和非医疗费用(美元[USD])。使用自我管理问卷和照顾者生活质量指数癌症(CQOLC)评估生产力损失以及对父母和照顾者的心理影响。
    结果:在25名参与者中,7放弃了对孩子的待遇,4因为孩子们过世而退出。照顾者/父母(N=12)每个孩子治疗BL的中位数(Q1,Q3)成本为947.42美元(763.03美元,1953.05美元)。直接医疗费用占总治疗费用的71%(11458.97美元)。父母在儿童癌症诊断前的工作时间从中位数(Q1,Q3)44.00(20.00,66.00)小时减少到诊断后1.50(0,20.00)小时。平均(SD)CQOLC评分为107.92(15.89),男性得分较高(111.00[17.26]),已婚参与者(111.26[17.29]),国家高级文凭证书持有人(113.00[1.41]),参与者的月收入超过84.60美元。
    结论:治疗费用降低了5个家庭的整体家庭收入。父母和照顾者的工作时间减少和失业。CQOLC在已婚参与者中得分较高,那些受过高等教育的人,以及收入较高的人。
    OBJECTIVE: Before June 2022, the treatment cost of Burkitt lymphoma (BL) in Ghana was mainly borne by the child\'s family or caregiver. We determined the treatment cost of BL in children and its psychological impact on parents and caregivers.
    METHODS: This prospective observational study assessed the direct medical and nonmedical costs (US dollars [USD]) incurred during the treatment of a child with BL for 6 consecutive months using a cost diary. Productivity losses and the psychological impact on parents and caregivers were assessed using a self-administered questionnaire and the Caregiver Quality of Life Index-Cancer (CQOLC).
    RESULTS: Of the 25 participants, 7 abandoned the treatment of their children, and 4 withdrew because the children passed away. The median (Q1, Q3) cost for treating BL per child for caregivers/parents (N = 12) was USD 947.42 (USD 763.03, USD 1953.05). Direct medical costs formed 71% (USD 11 458.97) of total treatment costs. Working hours of parents before the child\'s cancer diagnosis decreased from a median (Q1, Q3) of 44.00 (20.00, 66.00) hours to 1.50 (0, 20.00) hours after the diagnosis. The mean (SD) CQOLC score was 107.92 (15.89), with higher scores in men (111.00 [17.26]), married participants (111.26 [17.29]), Higher National Diploma certificate holders (113.00 [1.41]), and participants earning a monthly income more than USD 84.60.
    CONCLUSIONS: Treatment costs reduced the overall household income of 5 families. Parents and caregivers experienced reduced work hours and loss of employment. CQOLC scores were higher in married participants, those with a higher educational background, and those with higher income.
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