肾母细胞瘤伴骨髓浸润1例

1病例资料 患儿,男,6岁,因发现腹部肿块2周余入院。2周前家长无意中发现患儿左腹部膨隆,无腹痛、血尿、发热及其它不适,食欲不振。体检:一般情况较差,消瘦,血压90/60 mmHg,心肺未见异常,左季肋部可触及一14 cm×9 cm的包块,下缘在左锁骨中线肋缘下11 cm处,质中,无压痛,边界清晰,不活动,表面欠光滑,无压痛,肝脾未触及。     

神经母细胞瘤伴骨髓纤维化1例报告

病史摘要李姓,男,3岁4个月,大连人。因两下肢不固定性疼痛二月余伴面色苍白一月,于82年12月31日入院。患儿2月前发现跛行,4天后感左膝疼痛,低热38℃左右,查血沉47mm/h,白细胞4,000/mm~3,拟诊“关节结核”,曾作抗痨治疗。6天后热退,但右膝出现疼痛,复查血沉为54mm/h,抗“0”>1250u,再次拟诊“风湿热”给予青霉素、强的松、阿斯匹林等治疗。10天后疼痛一度缓解,但不久膝痛复起,经理     

肾母细胞瘤伴肾外型肾母细胞瘤一例

患儿:女,6个月。因发现右腹部肿物2个月入院。患儿家长于2个月前发现患儿右腹部有一肿物,逐渐增大,未经治疗。检查:腹软,肝脾不大,右中腹可及约10cm×8cm×8cm大小肿物,质硬,表面光滑,无压痛,活动度不大。辅助检查:血常规:Hb102g/L;尿常规:潜血(-),镜检未见异常;肾盂造影:左肾显影正常,右肾盂轻度扩张,向右上移位,右输尿管向上内移位;腹部CT诊断为右肾母细胞瘤;胸片未见异常。手术所见:肝脏未见转移灶,左肾未见异常;肿物位于右腹膜后,呈实质性,表面光滑无结节,约12cm×10cm×10cm大小,右肾位于肿物右后上侧,受压变形,横卧于肿物上,肿物周…     

肾母细胞瘤术前破裂1例报告

<正>病例资料患儿男,6岁,2008年4月27日出生。以发现腹部包块7 d入院,无发热、恶心及呕吐,无尿痛、尿频及尿血。CT示:右腹巨大肿块影,长约11 cm,密度不均,不均匀强化,与右肾关系密切,右肾上腺及腹膜后淋巴结未见异常。MRI示:右肾中上极与肝右叶间9.3 cm×12.4 cm类圆形长T1、等和短T2异常信号灶,动脉期无明显强化,病灶内多支动脉穿行,门静脉期及延迟扫描病灶渐进性不均匀增强,病灶周围见无强化包膜,右肾形态失常,病灶呈宽基底连于肾脏,邻近肝脏明显受压、移位,局部分界欠清晰;右肾静脉及肾上腺显示欠清。腹膜后未见明显     

肾母细胞瘤肺动脉栓塞急死1例

患儿男,1岁。因苍白、纳差2个月,腹部包块半月入院。生后健康,发育正常。两月来精神萎靡,食少、苍白、消瘦。1月来腹部拒按,半月前右上腹出现核桃大包块,渐增大。在某院B超检查提示肝内有49×38mm和82×60mm2个实性肿块。查体:体温38.2℃,慢性病容。腹膨隆,拒按,肝下缘在肋下7cm,并可触及一5×5cm肿块,质硬,边界不清。脾未触及。余无其他异常体征。化验检查:血红蛋白86g/L,白细胞19.3×10~9/L分数正常。尿蛋白(+),红细胞1～2个/HP,白细胞2～3个/HP。X线胸片提示左肺门钙化。临床诊断:肝母细胞瘤。入院第7日     

肾母细胞瘤合并虹膜缺如1例

肾母细胞瘤是小儿常见的三大肿瘤之一，少数肾母细胞瘤病人可合并虹膜缺如，国内报道极少，本院近期收治1例，现报告如下。     

肾母细胞瘤伴静脉瘤栓的治疗探讨

目的总结本院近6年来诊治的肾母细胞瘤伴静脉瘤栓病例资料,探讨此类患儿的治疗原则。方法回顾性分析2010年至2016年在本院诊断并接受系统治疗的肾母细胞瘤伴静脉瘤栓患儿临床资料,共12例。其中男性4例,女性8例(男女比例为1∶2)。平均首诊年龄3.94岁(最小1.5岁,最大7岁)。左侧5例,右侧7例。临床分期Ⅰ期5例,Ⅱ期4例,Ⅳ期3例(其中2例为肺转移,1例为肝脏和肺转移)。静脉瘤栓分型:Ⅰ型(下腔静脉的瘤栓在肾静脉水平以上,但距离小于2 cm)5例;Ⅱ型(瘤栓在肾静脉水平以上,距离超过2 cm,未超过肝门)2例;Ⅲ型(瘤栓超过肝门水平,但在横膈以下)2例;Ⅳ型(瘤栓超过横隔水平)3例。结果 12例患儿中,5例Ⅰ型瘤栓及1例Ⅱ型瘤栓患儿在明确诊断后即行肿瘤及瘤栓切除术,其余6例均在手术前接受化疗,肿瘤及瘤栓缩小后再行肿瘤及瘤栓切除术。5例瘤栓有残留。12例手术后均恢复良好,术后病理检查结果为肾母细胞瘤。经过术前化疗的病例中,瘤栓中均未见肿瘤细胞,仅为纤维组织及泡沫细胞。Ⅰ型瘤栓与静脉壁无粘连,Ⅱ至Ⅳ型瘤栓均下腔静脉壁有不同程度的粘连或浸润。全部患儿均完成方案中所有化疗程序及放疗。均于门诊定期随访0.5~6年,未见肿瘤复发。其中5例瘤栓残留病例在随访过程中未发现下腔静脉瘤栓有明显变化。结论①新辅助化疗对于此类患儿十分有必要;②根治手术中,不必过分追求瘤栓的完整切除,可以允许少量的瘤栓残留;③术后持续的规范化化疗和放疗是良好预后的保证。     

新生儿神经母细胞瘤伴毛霉菌病尸检1例

男,7天,第1胎足月剖腹产分娩,(母患高血压综合征)。有轻度窒息,经抢救后仍多次出现呼吸困难,并双下肢、臀部、腹壁出现硬肿而入院。检查:T39.7℃、R60、P140,垂危病容,深昏迷、全身皮肤可见大小不等出血点、瘀斑、凹陷性水肿及硬     

儿童肾母细胞瘤WT1基因突变四例报道

目的 研究儿童肾母细胞瘤患者WT1基因的突变类型及突变频率.方法应用聚合酶链反应(PCR)扩增出54例儿童肾母细胞瘤患者WT1基因全部10个外显子及其相邻内含子序列,经纯化后进行PCR产物直接测序.结果 4例患者WT1基因分别存在3个杂合无义突变及1个纯合错义突变.例1患者WT1基因7号外显子第1006位碱基A→T杂合突变,造成第336号氨基酸由赖氨酸转变为终止密码子,即K336X.例2患者WT1基因9号外显子第1168位碱基c→T杂合突变,造成第390号氨基酸由精氨酸转变为终止密码子,即R390X.例3患者WT1基因6号外显子第814位碱基G→T杂合突变,造成第272号氨基酸由谷氨酸转变为终止密码子,即E272X.例4患者WT1基因10号外显子第1228位碱基A→G纯合突变,造成第410号氨基酸由丝氨酸转变为甘氨酸,即S410G.结论 散发的中国儿童肾母细胞瘤患者WT1基因外显子突变的发生率与国外报道相近,检测到的4例突变患者中3例为无义突变、1例为错义突变.     

Granulocytic sarcoma of the spine in a child without bone marrow involvement: a case report and literature review

We report a 2-year-old Japanese boy without bone marrow involvement who developed a primary granulocytic sarcoma in his spinal canal. Tumour cells were positive for myeloperoxidase, MIC2, CD56 and, CD68 on formalin-fixed, paraffin-embedded tissue sections and CD13, CD33, CD45, and CD64 on acetone-fixed fresh frozen sections. Nine months after the initiation of treatment, the tumour had significantly regressed and the patient was able to walk with help. Conclusion:Our patient is the youngest case of granulocytic sarcoma of the spine without bone marrow involvement. Immunohistochemical methods are very helpful in establishing a diagnosis of granulocytic sarcoma.     

Successful second bone marrow transplantation in Omenn's syndrome after bone marrow aplasia: a case report

Omenn's syndrome is a rare inherited variant of SCID. It is inevitably fatal, unless treated by bone marrow or stem cell transplantation. However, treatment-related complications and graft rejection are major obstacles to the success of transplantation. In this report, we describe an eight-month-old baby with Omenn's syndrome and disseminated BCGosis, who underwent allogenic BMT from his HLA-matched sister using anti-GVHD prophylaxis but without a conditioning regimen. Ten days after BMT, he developed acute GVHD involving the skin only (grade 1) with a flare of local BCGosis. Engraftment of 55% was demonstrated by FISH as early as the 11th day post-BMT. On day +48 post-BMT, he developed GVHD that was complicated by refractory pancytopenia, resistant to three doses of rituximab. Patient was re-transplanted (from the same donor) after receiving fludarabine and ATG, with successful engraftment and complete recovery from pancytopenia.     

Abdominal malignant mesothelioma following autologous bone marrow transplantation: a case report

Secondary malignancies are a well-known late complication occurring in patients who undergo bone marrow transplant (BMT) during childhood. A boy with acute lymphoblastic leukemia experienced a BM relapse at the age of 14 years and underwent an autologous BMT conditioned with TBI and melphalan. Sixteen years later a malignant mesothelioma of the peritoneum was diagnosed. A surgical approach according to the Sugarbaker technique and hyperthermic peritoneal perfusion with CDDP and Adriamycin were performed. The patient is alive and well after a follow-up of 20 months. To the authors' knowledge this is the first case of mesothelioma as a secondary malignancy after BMT.     

Transmission of type 1 diabetes by bone marrow transplantation: a case report

Abstract:  T1D after BMT constitutes a human model of autoimmune disease transmission. This case report refers to T1D onset after allogeneic HLA-matched BMT in a six-yr-old recipient affected by aplastic anemia. The donor was his sister who had T1D. The recipient had a complication free course apart from grade 1 acute GVHD, which was resolved spontaneously. With the predictive value and significance of T1D-associated autoantibodies, we tried to consolidate the T1D transfer possibility based on our patient characteristics and a literature review.     

Hemophagocytic lymphohistiocytosis in systemic mastocytosis treated with allogeneic bone marrow transplant: A case report

Systemic mastocytosis is a rare entity in pediatrics, usually associated with mutations in the c‐KIT gene. We describe a Caucasian female who presented with severe systemic mastocytosis with food allergies requiring prolonged total parenteral nutrition. Her course was further complicated by the onset of hemophagocytic lymphohistiocytosis, which responded poorly to conventional chemotherapy. She underwent an allogeneic hematopoietic stem cell transplant that resulted in resolution of all symptoms related to systemic mastocytosis and hemophagocytic lymphohistiocytosis. She is now disease‐free and without any complications two years after the transplant.