Objective To improve the diagnostic level by analysing and the CT features of undifferentiated embryonal sarcoma of liver(UES) in 6 cases all proved by pathology. Methods We retrospectively reviewed the clinical,pathologic,and imaging features in 6 cases.6 cases underwent unenchanced CT scan,5 case enchanced CT Results CT scan revealed a large uniloculated cyst in 3 and multiloculated cyst within hyperdense septations of variable shapes and thickness in 3.The margins of the lesions were well defined. Some solid portions at the periphery or adjacent to the septa were found in all cases. Punctate calcification at the periphery of the lesion was found in 1 case. A thin rim was seen surrounding the cystic tumor in all cases corresponding to the pathologic psedcapsule. The solid portions and the psedcapsule of the tumor had increased attenuation values and the cystic areas showed low attenuation after injection of contrast material. US demonstrated a single echogenic mass within some anechoic spaces of variable size in 4 cases. Conclusion CT scan showed well defined uniloculated or multiloculated cyst within variable amount of solid portions and an enhancing rim and predominantly solid at US. Discrepancy of internal architecture between US and CT was one of the important characteristic of UES.

Child ; China ; Humans ; Pediatrics ; trends

Objective To discuss the unique biological,histological and clinical features of pediatric renal cell carcinoma (RCC).Methods A retrospective review and biological analysis of all RCC cases presenting to our hospital from January 1973 to March 2012 was undertaken.Results Twenty-nine RCC pediatric patients (16 boys,13 girls) with mean age of 9.6 (range 2.5-16.0) years were identified.The presentations included hematuria in 17 (58.6％) cases with 3 who developed hematuria after trauma,abdominal mass with hematuria in 3 (10.3％),abdominal mass in 3,abdominal pain in 2,abdominal pain with hematuria in 1,and incidentally finding in 3.The diameter of tumor was from 2.5 cm to 25.0 cm,mean 6.8 cm.According to TNM stage grouping system,16 cases were stage Ⅰ,10 stage Ⅲ,and 3 stage Ⅳ.Xp1 1.2 translocation RCC was identified in 21 patients,clear cell RCC 6,papillary RCC 2.Of the 29 cases,3 patients with the tumor less than 7-cm had nephron-sparing surgery.A 15-cm tumor was incompletely removed in 1 patient and another patient with a 25 cm× 18 cm×15 cm tumor had gross residual.Nephrectomy was performed for the affected kidney in the remaining 24 patients.Twenty-one patients (Xp1 1.2 translocation RCC 13 patients,clear cell RCC 6,papillary RCC only 2) were followed up from 1.5 to 34.0 years,18 were living well (T1N0M0 in 11 cases,T1N1M0 in 2,T2N1M0 in 3,T3N1M0 in 1 and T4N1M1 in 1) and 3 died of recurrence.Conclusions Although RCC is rare in children,pediatric RCC behaves in a distinct fashion compared with adult forms of RCC.Hematuria is the main symptom in pediatric RCC.Xp11.2 translocation RCC is the predominant form,associated with an advanced stage at diagnosis.Nephrectomy is the common treatment for RCC and nephron sparing surgery could be a reasonable option for patients with tumor smaller than 7 cm.For localized RCC (T1-2 N0-1 M0),simple kidney removal surgery is sufficient for treatment without lymph node dissection and postoperative adjuvant treatment.

Objective: To investigation the diagnostic utility of tyrosine hydroxylase (TH) immunohistochemically as a marker of peripheral neuroblastic tumors(pNT). Methods: The study included 1 024 cases, 643 primary and metastatic pNT cases, 381 non-pNT cases, including small round cell tumors such as primitive neuroectodermal tumor (PNET), rhabdomyosarcoma, lymphoma, nephroblastoma, as well as other more common tumors (medulloblastoma, hepatoblastoma, pleuropulmonary blastoma, renal clear cell sarcoma, Langerhans cell histiocytosis, lipoblatoma etc). Tissue slides of these 1 024 cases were stained with TH and other common antibodies to evaluate whether TH was useful to identify pNT. Results: TH showed cytoplasmic staining in 100.0% (643/643) of pNT and 3.9% (15/381) of non-pNT. TH expression was seen in some poorly differentiated and undifferentiated tumors with focal or scattered patterns. In some cases, more scattering was seen in neuroblastoma with poor differentiation. The sensitivity, specificity, positive predictive value and negative predictive value of TH was 100.0% (643/643), 96.1%(366/381), 97.7%(643/658) and 100.0% (366/366), respectively. There was no TH expression in the 248 cases of other small round cell tumors (PNET, rhabdomyosarcoma, lymphoma, etc), thus suggesting TH was useful to differentiate between PNET and neuroblastoma. As CD99 was positive in 95% PNET, some PNET would be CD99 negative. In those cases, particularly with diffuse rosettes forming, TH immunostaining would be useful. Conclusion TH is sensitive and specific for pNT in the differential diagnosis from other tumors of childhood and shows high diagnostic utility.

Bone Neoplasms ; pathology ; Humans ; Sarcoma, Ewing ; pathology

Objective: To investigate the clinical, pathological features and differential diagnosis of testicular Leydig cell hyperplasia (LCH) . Methods: Clinical data, histological features, immunohistochemical findings, ultrastructural characteristics and follow-up data were analyzed in three cases of LCH. The cases were collected from 2011 to 2014 at Beijing Children′s Hospital. A literature review was performed. Results: Two males (1.8 years and 2.9 years of age) showed isosexual pseudoprecocity with elevated serum testosterone. Imaging study showed bilateral testicular enlargement with multiple small nodules in the parenchyma. Another 13 years-old patient showed male pseudohermaphroditism and cryptorchism. Gross examination showed the bilateral markedly enlarged testis without discrete lesion. Histologically, LCH was seen in both nodular and diffuse patterns without destruction of seminiferous tubules. Adjacent spermatogenesis was noted. Immunohistochemically, the Leydig cells were positive for inhibin, calretinin and Melan A and ultrastructural analysis showed enriched cytoplasmic endoplasmic reticulum. Two cases had followed up for 7 years. One patient was symptom-free and one was stable. Conclusion LCH is a rare benign condition, which is easily misinterpreted as testicular tumor or non-neoplastic diseases. Clinical presentation, imaging study and pathological evaluation are required for the diagnosis.

Consensus ; Hirschsprung Disease ; diagnosis ; Humans

Objective: To summarize the clinical and pathological features of small vessel-childhood primary angiitis of the central nervous system (SV-cPACNS), discuss the immune therapy and increase the attention to brain biopsy in SV-cPACNS. Methods: The clinical data, pathology of brain biopsy, treatment and outcome of an SV-cPACNS patient hospitalized in Beijing Children's Hospital in February 2016 were analyzed retrospectively. The cases reported at Pubmed, CNKI and Wanfang databases from 2007 to 2017 were searched, the clinical and pathological features, immunotherapy and prognosis of the disease were summarized according to the literature review. Results: A 70 months old girl had 6 times relapses during 5 months' disease course. Symptoms included convulsions, limb paralysis, blurred vision and speech difficulty. Multiple cortical lesions were found successively in brain MRI but CT angiography was negative. The pathology of brain biopsy revealed thickening of small vessel walls together with lymphocytic infiltration. After the treatment with rituximab, remission was achieved and remained stable without recurrence in 1 year follow up. A total of 44 pathologically confirmed cases reported in nearly 10 years were retrieved. Male to female ratio was 1∶3.5. The average onset age was 9.8 years. Clinical manifestations included seizures (37/45, 82%), headache (35/45, 78%), cognitive decline (28/45, 62%), speech regression(20/45, 44%), paralysis (15/45, 33%), and so on; 70% (19/27) patients experienced relapses. Erythrocyte sedimentation rate and C-reactive protein slightly elevated, antinuclear antibody and other autoimmune antibodies were mostly negative. Mild lymphocytosis in cerebrospinal fluid was found in 67%(29/43) patients. 53%(23/43) patients had elevated CSF protein level, several had elevated IgG and positive oligoclonal band. Bilateral multifocal lesions were revealed in 80% (36/45) brain MRIs, meanwhile all angiographies were unremarkable. The pathology showed small angiitis and immunohistochemistry positive for CD3 and CD20. Twenty-seven patients had detailed therapeutic information; 25 of them received immunosuppressive agents, including cyclophosphamide, mycophenolate mofetil and rituximab. One patient died, 26 patients achieved remission with 54% (22/44) had neurological sequelae. Conclusions SV-cPACNS had varied clinical manifestations, there was no specificity in laboratory and imaging examination and angiography was often negative. The definite diagnosis relied on brain biopsy, which showed lymphocytic inflammation of small vessels. SV-cPACNS tended to relapse and induce neurologic deterioration. Treatment required long-term use of steroids and immunosuppressive agents. Rituximab could be an effective agent.

Objective: To investigate the clinicopathological and ultrastructural characteristics of Langerhans cell histiocytosis (LCH) in children. Methods: A total of 345 cases of LCH from the Department of Pathology, Beijing Children Hospital from January 2012 to March 2016 were investigated by hematoxylin-eosin stain, EnVision immunohistochemistry and transmission electron microscopy. Results: The rate of primary clinical diagnosis of LCH in children was 46.0%(210/457). Among 345 patients of LCH, 213 were male and 132 were female, the male to female ratio was 1.6∶1.0, and the median age was 21 months (range from 2 days after birth to 13.3 years). There were total 597 lesions, including bony lesions (258, 43.2%), skin lesions (206, 34.5%) , followed by lymph node (16, 2.7%), lung (28, 4.7%), liver (25, 4.2%) and head-neck (50, 8.4%). Single organ system LCH (SS-LCH) was seen in 295 cases (85.5%) and 50 cases (14.5%) presented with multiple organ system involvement LCH (MS-LCH). There was no significant difference in age and gender between SS-LCH and MS-LCH groups. Regarding sites, more lesions were seen in bone and skin in SS-LCH group, in contrast lymph node, lung, liver and head-neck involvements were often seen in MS-LCH group. Immunohistochemically, the expression of CD1a and Langerin was seen in 99.7% (341/342) and 98.8% (338/342) of the cases respectively. The diagnostic rates by light and transmission electron microscopy were 98.8% (341/345) and 97.4% (112/115) respectively (P>0.05). Conclusions LCH of children occurs predominantly in SS-LCH pattern, frequently involving bone, skin, lymph node, lung and liver and other sites with unique histopathological, immunophenotypical and ultrastructural features. Accurate diagnosis relies on the morphology, immunophenotype and ultrastructural features. Further refinement of specimen processing may improve the accuracy of pathological diagnosis.

Objective To explore the short-term efficacy in children with head and neck rhabdomyosarcoma (HN-RMS) treated by multidisciplinary therapy,and to analyze the prognostic factors,so as to guide the diagnosis and treatment.Methods Patients with HN-RMS admitted at Hematology Oncology Center of Beijing Children's Hospital (BCH),Capital Medical University between December 2012 and May 2017,were included in this case-observation study.The clinical characteristics were analyzed and the treatment effect and prognostic factors were summarized.Results A total of 48 cases were collected,including 36 boys and 12 girls,with a median age of 4.6 years.Primarysite parameningeal RMS(PM-RMS) (34 cases,70.8％),orbital (2 cases,4.2％) and non-orbital,non-parameningeal region(12 cases,25.0％) were found.Twenty cases belonged to alveolar type(41.7％),and 28 cases were of embryonaltype(58.3％).The diameter of the tumor was ＞5 cm(n =25,52.1％),and ≤5 cm(n =23,47.9％).IRS staging:there were 29 cases(60.4％) of stage Ⅱ-Ⅲ,19 cases (39.6％) of stage Ⅳ;29 cases (60.4％) of low-medium risk,and 19 cases (39.6％) of high risk.Twenty-three patients (47.9％) received surgery,and 25 cases (52.1％) received biopsy only.All patients (48 cases) received systemic chemotherapy.Twenty patients (41.6％) received external radiation,15 cases (31.3％) received 125I particle implantation,6 cases (12.5％) received proton therapy,but 3 cases (6.2％)did not receive radiation.The follow-up time lasted 13-57 months[(24.1 ± 12.3) months].The 2-year overall survival(OS) rate was (66.4 ± 7.2)％,and 2-year event free survival (EFS) rate was (59.9 ± 7.5) ％.Patients with tumor diameter ≤ 5 cm had higher OS and EFS than patients with tumor diameter ＞5 cm [2-year OS (87.4±6.8)％ vs.(42.9 ±6.8)％,2-year EFS (78.8 ±8.6％) vs.(38.5 ±10.8)％],and the differences were statistically significant (all P =0.006).Patients with orbital and non-orbital,non-parameningeal RMS had higher OS and EFS than PM-RMS [2-year OS 100％ vs.(87.5％ ± 11.7) ％ vs.(57.0 ± 8.8) ％;2-year EFS 100％ vs.(88.9 ± 10.5)％ vs.(51.1 ± 8.9)％],and the differences were statistically significant (P =0.008,P =0.030).Patients who received surgery had higher OS and EFS than those who did not received surgery [2-year OS (80.7±8.8)％ vs.(53.3 ± 10.4)％;2-year EFS (71.1 ±10.1)％ vs.(49.5±10.4)％],and the differences were statistically significant (P =0.008,P =0.026).COX regression analysis showed tumor diameter ＞ 5 cm was an adverse prognostic factor (OR =4.124,95％ CI:1.213-14.025,P =0.023).Conclusions PM-RMS accounted for a high proportion in RMS patients.The primary site and the size of the tumor are the main prognostic factors.Intensive therapy is expected to improve the prognosis of HN-RMS with meningeal invasion.