儿童胸腺淋巴上皮瘤样癌1例报道并文献复习

目的加强对儿童胸腺淋巴上皮瘤样癌(LELC)的认识。方法对1例诊断为儿重胸腺LELC患儿临床资料进行回顾性分析,并结合文献报道的10例儿童LELC进行分析。结果惠儿,12岁,男,表现为夜间睡眠不宁、胸闷;外周血白细胞升高,胸部CT示右中上纵膈可见类圆形软组织密度影;手术切除大部分肿物,病理报告为胸腺LELC;化疗后临床症状消失,6个月后原位复发。近20年来文献报道胸腺LELC患儿共10例,其中男6例,女4例。起病症状为胸痛、呼吸困难者6例,肥大性骨关节病(HOA)5例,证实EBV感染6例;8例在发病1年左右死亡。结论胸腺LELC是儿童时期罕见的恶性肿瘤,常合并EBV感染,存在免疫功能紊乱,临床特点为咳嗽、胸闷、胸腔巨大占位和HOA,手术难以完整切除,恶性程度高,预后极差。     

Thymic carcinoma in children

Thymic epithelial neoplasms consist of thymomas, thymic carcinoids, and thymic carcinomas. Carcinomas are malignant tumors of the thymus characterized by obvious cytological anaplasia. They constitute only 4%-14% of thymic epithelial neoplams. Thymic carcinoma rarely occurs in children. Research in the English literature carried out for the present study revealed only 14 cases younger than 18 years-of-age. Here we have reported a 16-year old girl who presented with respiratory distress due to huge anterior mediastinal mass. Histological and immunohistochemical studies confirmed lymphoepithelioma-like thymic carcinoma. She received systemic chemotherapy and radiotherapy. However, she died within 15 months due to progressive disease.     

Spontaneous bowel perforation in infants and young children: a clinicopathologic analysis of pathogenesis

BACKGROUND: In children beyond the neonatal stage, spontaneous bowel perforation with no specific cause is rare. It has attracted little notice and does not fit into any established clinical category. This often results in treatment delays. To determine the underlying pathogenesis, a clinicopathologic analysis of this group of patients was performed. METHODS: From 1984 through 1997, 15 previously healthy children (10 boys and 5 girls) with bowel perforations were enrolled in this study. Children in whom the specific cause was established were excluded. The ages of the patients ranged from 3 months to 5 years, 5 months (average age: 2 years, 4 months). Data on clinical course, surgical and pathologic findings, and outcomes were analyzed. RESULTS: All the patients had high fever and acute, watery diarrhea with clinical dehydration. Abdominal distension developed and bowel perforation ensued 5 to 30 days after the onset of diarrhea. In all cases, the perforation consisted of either an isolated patch of bowel (n = 8) or patchy lesions in a segment (n = 7), which was confined to one of the following three anatomic watershed areas: the splenic flexure (n = 7); the lower sigmoid (n = 3); and the ileocecal region (n = 5). One patient died, and three had major sequelae including intra-abdominal abscess, adhesion ileus, and peristomal fistula. Specimens from 13 patients were submitted for histopathologic evaluation. All specimens had acute suppurative inflammation diffusely around the perforation site. Seven had areas of coagulation necrosis of the muscularis propria, especially in the inner circular muscle layer. CONCLUSION: In acute diarrheal diseases, dehydration may cause bowel ischemia and lead to perforation. Physicians should be alert to the possibility of this abdominal catastrophe when progressive abdominal distension followed by acute diarrheal episodes occurs in children.     

儿童甲状腺癌的临床特点及治疗分析

目的探讨儿童甲状腺癌的临床特点及治疗方法。方法回顾分析2003年1月至2014年1月诊断和治疗的19例14岁以下甲状腺癌患儿的临床资料。结果 19例患儿中,男12例,女7例;乳头状癌18例,滤泡状癌1例。行甲状腺峡部加一侧腺叶切除术6例,甲状腺次全切除术4例,甲状腺全切除术9例;单侧颈淋巴结清扫5例、双侧11例。术后病理证实多灶者9例,包膜受侵者14例,淋巴结转移者15例,远处转移5例。所有患儿术后均行促甲状腺激素抑制,10例行131I治疗。中位随访时间63个月,无死亡病例;2例局部残叶肿瘤复发,2例出现颈部淋巴结转移,1例出现远处转移。结论儿童甲状腺癌多为分化型甲状腺癌,总体预后较好,但包膜外侵、两叶多灶、颈部淋巴结及远处转移的高风险患儿需选择甲状腺全切为主的综合治疗方案。     

儿童MELAS综合征临床及分子遗传学特点分析

目的　探讨线粒体脑病伴乳酸酸中毒和卒中样发作综合征 (MELAS综合征 )临床及分子遗传学特点。方法　对北京大学第一医院儿科 1998～ 2 0 0 3年收治的 8例MELAS综合征患儿临床表现、一般实验室检查、肌肉病理及线粒体DNA32 4 3位点点突变检测结果进行分析。结果　 ( 1)临床特点 :早期智力运动发育里程碑基本正常 ;多数患儿身材矮小伴多毛 ;6例肌肉受累 ;中枢神经系统症状出现年龄 3～ 13岁 ,其中发作性头痛 5例 ,偏瘫、视力障碍、智力倒退各 4例 ,惊厥 7例。 ( 2 )实验室检查 :6例静态乳酸、丙酮酸升高 ;5例行血气分析仅 1例示代谢性酸中毒 ;肌酸肌酶均正常 ;3例行肌电图仅 1例异常 ;7例行肌活检均见异常线粒体堆积 ;脑电图均示背景慢波增多 ;头颅MRI示 5例枕部异常信号 ,5例双基底节异常信号 ;1例脑干及小脑异常信号 ;1例小脑萎缩伴轻度大脑皮层萎缩 ;1例未见异常。 ( 3)分子遗传学 :5例白细胞线粒体DNA存在 32 4 3位点A→G突变 ,突变率为 37%～6 0 % ,其中 1例母亲存在同样突变。结论　MELAS综合征的临床表现多样 ,血乳酸丙酮酸、肌肉病理、头颅MRI及分子遗传学检查对于诊断此病尤为重要     

儿童青少年经典霍奇金淋巴瘤临床病理学特点分析

目的探讨儿童青少年经典霍奇金淋巴瘤(CHL)的临床病理学特点。方法对1997年-2013年在我院诊断为CHL的儿童青少年(≤18岁)病例资料进行回顾性分析。结果儿童青少年CHL共169例,男性131例,女性38例,男女性别比约3.4:1。中位发病年龄10(3~18)岁。整组病例中,18例因组织过少难以准确进行组织学分型,其余151例病例中,混合细胞型(MC)最为常见(占65%),其次为结节硬化型(NS)和富于淋巴细胞型(LR),分别为21%和14%。115例(68%)与EB病毒相关。按年龄分组显示:≤6岁者48例(29%),7~14岁者81例(48%),15~18岁者40例(23%)。比较上述三个年龄段病例组EB病毒的检出率和组织学亚型的分布,结果显示差异均有显著性(分别为90%、69%、40%和80%、64%、50%,P值均0.001)。结论儿童青少年CHL较多见于6~14岁儿童,但EB病毒阳性CHL更多见于≤6岁儿童,EB病毒阴性CHL更多见于15~18岁患者。MC是儿童青少年CHL中最常见的组织学亚型,但在15~18岁病例组中,NS为最常见亚型。     

Thymic carcinoma in a child with HIV infection

HIV infection predisposes to cancer during childhood. In addition to the AIDS-defining non-Hodgkin lymphoma (NHL) and Kaposi sarcoma, a range of other lymphoid malignancies and solid tumors have been described. We report the first case of an HIV-positive child with thymic carcinoma in the setting of regressing thymic cysts. The tumor expressed CKIT but failed to respond to imatinab mesylate after a transient response to multiagent chemotherapy. This case extends the spectrum of pediatric malignancy in the setting of HIV and suggests that patients with presumed benign thymic cysts require ongoing surveillance.     

Neuroblastoma in children: Update on clinicopathologic and genetic prognostic factors

Neuroblastoma is the most common extracranial solid tumor in childhood accounting for 8–10% of all childhood malignancies. The tumor is characterized by a spectrum of histopathologic features and a heterogeneous clinical phenotype. Modern multimodality therapy results in variable clinical response ranging from cure in localized tumors to limited response in aggressive metastatic disease. Accurate clinical staging and risk assessment based on clinical, surgical, biologic and pathologic criteria are of pivotal importance in assigning prognosis and planning effective treatment approaches. Numerous studies have analyzed the presence of several clinicopathologic and biologic factors in association with the patient's prognosis and outcome. Although patient's age, tumor stage, histopathologic classification, and MYCN amplification are the most commonly validated prognostic markers, several new gene mutations have been identified in sporadic and familial neuroblastoma cases that show association with an adverse outcome. Novel molecular studies have also added data on chromosomal segmental aberrations in MYCN nonamplified tumors. In this review, we provide an updated summary of the clinical, serologic and genetic prognostic indicators in neuroblastoma including classic factors that have consistently played a role in risk stratification of patients as well as newly discovered biomarkers that may show a potential significance in patients' management.     

儿童碳青霉烯类耐药肠杆菌目细菌感染的临床特征及分子流行研究北大核心CSCD

目的探讨儿童碳青霉烯类耐药肠杆菌目细菌(carbapenem-resistant Enterobacterales,CRE)感染的临床特征与分离株的分子特征。方法回顾性分析广东省人民医院2018年1月至2021年6月住院患儿的相关临床资料及感染情况,共获得非重复肠杆菌目细菌菌株1098株。对所分离的66株CRE菌株进行药敏试验、PCR扩增和耐药相关基因测序,以研究分子流行情况。结果1098株肠杆菌目细菌中,CRE检出率为6.01%(66/1098)。66株CRE来自66例患儿,其中男37例(56%),女29例(44%);年龄2 d至14岁,其中<1月龄16例(24%),1月龄~28例(42%),12月龄~11例(17%),>36月龄11例(17%)。被检出CRE的患儿主要分布于新生儿科(38例,58%)、儿科重症监护室(17例,26%)等科室;呼吸道标本(48%)、中段尿标本(21%)、血液标本(17%)位于标本检出前3位。CRE菌株以肺炎克雷伯菌(45株,68%)、大肠埃希菌(12株,18%)、阴沟肠杆菌(6株,9%)为主,对亚胺培南和厄他培南等碳青霉烯类及青霉素头孢类高度耐药,对常见抗菌药物耐药性均普遍偏高,仅对阿米卡星(14%)、左旋氧氟沙星(23%)、妥布霉素(33%)等耐药率相对较低。肺炎克雷伯菌碳青霉烯酶基因型以bla_(NDM)(20株,44%)、bla_(IMP)(10株,22%)及bla_(KPC)(5株,11%)为主;大肠埃希菌碳青霉烯酶基因型以bla_(NDM)为主(10株,83%);经测序,bla_(NDM-1)24株,bla_(NDM-5)6株,bla_(IMP-4)5株,bla_(KPC-2)3株,部分基因型尚未明确。结论儿童CRE感染发生率高,且集中于1~12月龄婴儿;CRE对抗菌药物的耐药性普遍偏高,儿童感染CRE菌株的碳青霉烯酶以金属酶为主。[中国当代儿科杂志,2022,24(8):881-886]     

44例儿童神经母细胞瘤临床分析

目的 分析儿童神经母细胞瘤（NB）的临床特点及影响生存率的因素,为进一步优化儿童NB诊治方案提供依据。方法 以2016年4月至2020年2月收治的44例NB患儿为研究对象,回顾性分析患儿的临床资料及随访资料。结果 44例NB患儿初次就诊常见临床症状依次为发热（10/44,23%）、发现肿块（9/44,20%）、腹痛（8/44,18%）、咳嗽（7/44,16%）、面色苍白（3/44,7%）、跛行（2/44,5%）及活动异常（2/44,5%）。根据INSS分期,Ⅰ期2例（4%）、Ⅱ期5例（11%）、Ⅲ期5例（11%）、Ⅳ期32例（73%）。44例患儿平均随访时间为（15.3±1.5）个月,复发率为20%,总生存率为82%,其中无事件生存29例（66%）,带瘤生存7例（16%）。病理类型为NB、血清神经元特异性烯醇化酶增高可降低NB患儿的总生存率（P < 0.05）。结论 NB患儿初诊临床症状无明显特异性,多以发热、腹痛、发现肿块最常见;初诊晚期患儿占比高;病理分型为NB、血清神经元特异性烯醇化酶增高可能与NB患儿总生存率降低有关。     

44例儿童神经母细胞瘤临床分析

目的 分析儿童神经母细胞瘤（NB）的临床特点及影响生存率的因素,为进一步优化儿童NB诊治方案提供依据。方法 以2016年4月至2020年2月收治的44例NB患儿为研究对象,回顾性分析患儿的临床资料及随访资料。结果 44例NB患儿初次就诊常见临床症状依次为发热（10/44,23%）、发现肿块（9/44,20%）、腹痛（8/44,18%）、咳嗽（7/44,16%）、面色苍白（3/44,7%）、跛行（2/44,5%）及活动异常（2/44,5%）。根据INSS分期,Ⅰ期2例（4%）、Ⅱ期5例（11%）、Ⅲ期5例（11%）、Ⅳ期32例（73%）。44例患儿平均随访时间为（15.3±1.5）个月,复发率为20%,总生存率为82%,其中无事件生存29例（66%）,带瘤生存7例（16%）。病理类型为NB、血清神经元特异性烯醇化酶增高可降低NB患儿的总生存率（P < 0.05）。结论 NB患儿初诊临床症状无明显特异性,多以发热、腹痛、发现肿块最常见;初诊晚期患儿占比高;病理分型为NB、血清神经元特异性烯醇化酶增高可能与NB患儿总生存率降低有关。     

Castleman's disease in children: report of 2 cases and clinicopathologic review

Castleman's disease (CD), a disorder of lymphoid hyperplasia with an unknown etiology, is rare in children. It usually presents as a localized mass and is often cured by surgery. The authors report two unusual cases of CD in children. One patient had localized CD in the left supraclavicular region, a rare site of unicentric disease. She was ultimately treated by excisional biopsy, and the mass did not recur. Another patient presented with airway compression due to localized infiltrating mediastinal disease, not amenable to surgery. She refused prednisone and was treated with radiotherapy, with slow remission and no relapse for 4 years.     

儿童假性甲状旁腺功能减退症20例临床特征与GNAS基因缺陷分析

目的:分析不同假性甲状旁腺功能减退症(PHP)亚型患儿的临床特征和分子遗传学改变,讨论不同PHP亚型之间临床表型与基因型的关联。方法:回顾性分析浙江大学医学院附属儿童医院2011年1月至2020年7月20例临床诊断PHP患儿的临床资料、实验室检查、基因检测结果及诊断分型。结果:20例患儿中男15例、女5例,其中甲状旁腺激素(PTH)抵抗有18例,具备Albright遗传性骨营养不良(AHO)表型的有13例。20例临床诊断PHP患儿均发现有基因异常,7例为GNAS基因变异,其中6例为移码变异,1例为错义变异;13例患儿为GNAS甲基化异常。共12例患儿同时具备PTH抵抗和AHO表型临床诊断PHP-Ⅰa型,其中7例为GNAS基因变异,5例为甲基化异常更正诊断为PHP-Ⅰb型。结论:以AHO或PTH抵抗作为典型表型进行PHP基因诊断,阳性率较高。PHP-Ⅰb型临床表型可与PHP-Ⅰa型相似,通过基因及甲基化检测方可明确诊断。PHP患儿早期亦可无PTH抵抗,分子遗传学检测可帮助明确诊断。     

儿童肝母细胞瘤临床病理特征分析#br#

目的探讨儿童肝母细胞瘤的临床病理特征。方法回顾分析经病理检查证实的68例肝母细胞瘤患儿的临床病理资料。结果 68例肝母细胞瘤患儿中男44例、女24例,3岁55例、≥3岁13例,初发时单发59例,甲胎蛋白(AFP)均明显升高。高危患儿27例,出现转移和/或肝外临近器官侵袭和/或门静脉及肝静脉三分支/下腔静脉受侵22例。术前影像分期PRETEXTⅣ期患儿13例。患儿年龄、AFP浓度、病理类型和PRETEXT分期有显著相关性(P均0.05);病理学类型和AFP浓度有显著相关性(P=0.002)。病理学类型在高危组、标危组之间的分布差异有统计学意义(P=0.043)。结论儿童肝母细胞瘤患儿临床病理特征差异性可能有助有指导临床治疗和预后评估。