Pediatric pathology & molecular medicine最新文献_第3页

Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases. 肿瘤疾病和22q11.2缺失:一项多中心研究和两例报告。

Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.323.341

Anna Scattone, Gilda Caruso, Andrea Marzullo, Domenico Piscitelli, Mattia Gentile, Lucia Bonadonna, Giuseppe Balducci, Maria Cristina Digilio, Alessandro Jenkner, Francesca Diomedi Camassei, Renata Boldrini, Pietro Nazzaro, Lucio Pollice, Gabriella Serio

{"title":"Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases.","authors":"Anna Scattone, Gilda Caruso, Andrea Marzullo, Domenico Piscitelli, Mattia Gentile, Lucia Bonadonna, Giuseppe Balducci, Maria Cristina Digilio, Alessandro Jenkner, Francesca Diomedi Camassei, Renata Boldrini, Pietro Nazzaro, Lucio Pollice, Gabriella Serio","doi":"10.1080/pdp.22.4.323.341","DOIUrl":"https://doi.org/10.1080/pdp.22.4.323.341","url":null,"abstract":"Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"323-41"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.323.341","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 12

Divergent patterns of extracellular matrix protein expression in neonatal versus adult liver fibrosis. 新生儿和成人肝纤维化中细胞外基质蛋白表达的不同模式。

Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.349.362

Leonid Zeitlin, Murray B Resnick, Fred Konikoff, Delphan Schuppan, Yoram Bujanover, Aaron Lerner, Amir Belson, Beatriz Lifschitz, Shimon Reif

{"title":"Divergent patterns of extracellular matrix protein expression in neonatal versus adult liver fibrosis.","authors":"Leonid Zeitlin, Murray B Resnick, Fred Konikoff, Delphan Schuppan, Yoram Bujanover, Aaron Lerner, Amir Belson, Beatriz Lifschitz, Shimon Reif","doi":"10.1080/pdp.22.4.349.362","DOIUrl":"https://doi.org/10.1080/pdp.22.4.349.362","url":null,"abstract":"The extracellular matrix (ECM) expression is subject to distinct changes during ontogeny, and the natural course of liver fibrosis in neonates is thought to differ from that in adults. We compared the expression and distribution of main ECM components between neonatal and adult liver fibrosis. Liver biopsies from infants with neonatal cholestasis and fibrosis were compared to adult biopsies exhibiting an equivalent stage of fibrosis. All biopsies were examined by immunohistochemistry (indirect ABC method) for the ECM proteins, collagens I, III, IV, and VI, laminin, and fibronectin. Infants (aged 1-8 months) with neonatal hepatitis (n = 3), extrahepatic biliary atresia (EHBA) (n = 5), and normal histology (n = 2) were compared with 9 adults (aged 17-70 years) with chronic hepatitis (n = 3), primary biliary cirrhosis (PBC) (n = 4), and normal histology (n = 2). Collagens I, III, and IV and fibronectin were significantly increased in neonatal hepatitis with mild fibrosis (score < or = 4) compared to adults with an equivalent fibrosis stage. This increase was particularly notable in perisinusoidal spaces. Laminin expression was increased in portal and perisinusoidal spaces both in neonatal hepatitis and extrahepatic biliary atresia with mild fibrosis. In infants with moderate to severe fibrosis (score > or = 6), only collagen I was increased in comparison to adults, whereas collagen VI expression was identical in all groups, irrespective of the degree of fibrosis. Expression of matrix proteins was not different in infants and adults without fibrosis. The increased perisinusoidal deposition of certain ECM components in infants with active hepatitis and mild fibrosis may point to an underlying difference in the mechanism or stimulus of fibrogenesis in neonates as compared to adults.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 4","pages":"349-62"},"PeriodicalIF":0.0,"publicationDate":"2003-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.4.349.362","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24138079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Yolk sac tumor and testicular microlithiasis. 卵黄囊肿瘤与睾丸微石症。

Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.343.347

Ricardo Drut

引用次数: 15

Clinico-pathologic conference: a 7-year-old girl with fever and lymphadenopathy. 临床病理报告:1例7岁女童，发热伴淋巴结病。

Pediatric pathology & molecular medicine Pub Date : 2003-07-01 DOI: 10.1080/pdp.22.4.285.301

Juan Dumois, Audrey Jara, Herbert H Pomerance, Atif Ahmed, Enid Gilbert-Barness

引用次数: 0

Reproductive toxicity of the psoralens. 补骨脂素的生殖毒性。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01 DOI: 10.1080/pdp.22.3.247.258

Moussa M Diawara, Paul J Kulkosky

引用次数: 24

Pathology teach and tell: congenital myelodysplastic syndrome with extensive hepatic fibrosis. 病理诊断:先天性骨髓增生异常综合征伴广泛肝纤维化。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01 DOI: 10.1080/pdp.22.3.265.270

Nandita Kakkar, R K Vasishta, Neelam Marwaha, R K Marwaha

引用次数: 0

Detection of n-myc gene amplification in neuroblastoma by comparative, in situ,and real-time polymerase chain reaction. 通过比较、原位和实时聚合酶链反应检测神经母细胞瘤中n-myc基因扩增。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01

Zsombor Melegh, Ildikó Bálint, Erika Tóth, Erzsébet Csernák, Zoltán Szentirmay, Kálmán Nagy

{"title":"Detection of n-myc gene amplification in neuroblastoma by comparative, in situ,and real-time polymerase chain reaction.","authors":"Zsombor Melegh, Ildikó Bálint, Erika Tóth, Erzsébet Csernák, Zoltán Szentirmay, Kálmán Nagy","doi":"","DOIUrl":"","url":null,"abstract":"We have used semiquantitative comparative and real-time quantitative polymerase chain reactions (PCR) to detect n-myc gene-amplification in 20 frozen neuroblastoma biopsies and IMR 32 cell line to predict biological behavior of the tumors. Two primer pairs were used for the semiquantitative method to co-amplify a 520-bp fragment of the beta-globin gene--used as a single copy reference standard--and a 258-bp fragment of the n-myc gene. After 30 cycles the PCR products were electrophoresed through an agarose gel and were compared to each other with use of a gel-densitometer. Real-time quantitative analyses were performed in a LightCycler instrument. A single primer pair was used to amplify a 120-bp fragment of the n-myc oncogene and a LC640-labeled fluorescent probe pair to detect the product. Calibration curve, set up from a serial dilution including samples with 1, 2, 10, 13, 25-fold n-myc oncogene amplification, was used for quantitative analysis. The semiquantitative method did not show distinct difference between tumor groups with no amplification and less than 10-fold amplification, whereas quantitative LightCycler analysis was able to detect even 2-fold amplification. Differentiated neuroblastomas seldom show n-myc amplification. In spite of this, we have found two partly differentiated tumor samples that contained n-myc amplification. In these cases in situ PCRs were performed to examine the tumor heterogeneity. We used biotinated ATP labeling and the same primer pair as for the LightCycler analysis. In both cases differentiated cells did not show n-myc gene amplification, whereas considerable amplification was detected in the neuroblasts.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 3","pages":"213-22"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22383758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pathology teach and tell: pediatric gastrointestinal stromal tumor. 病理教与讲:小儿胃肠道间质瘤。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01 DOI: 10.1080/pdp.22.3.259.264

N J Sebire, A Ramsay, M Malone, R Risdon

{"title":"Pathology teach and tell: pediatric gastrointestinal stromal tumor.","authors":"N J Sebire, A Ramsay, M Malone, R Risdon","doi":"10.1080/pdp.22.3.259.264","DOIUrl":"https://doi.org/10.1080/pdp.22.3.259.264","url":null,"abstract":"A14-year-old boy, with no signi¢cant past medical or family history, presented with a 3-month history of vomiting and epigastric discomfort. There was no dysphagia or hematemesis and no systemic symptoms were present. Review of systems was otherwise unremarkable. On physical exmination, he was a well-nourished adolescent with no stigmata of chronic disease but a ¢rm mass was palpable in the epigastrium. Gastroscopic examination demonstrated macroscopically normal mucosa overlying a smooth polypoid lesion with associated gastric wall distortion by a mass arising from the posterior stomach wall. Computerized tomography con¢rmed the presence of a soft tissue mass within the posterior inferior aspect of the gastric wall, which also appeared to extend into the surrounding transverse mesocolon. Modi¢ed partial gastrectomy was carried out that revealed an umbilicated polypoid nodule arising from the posterior gastric wall, 4 cm in maximum extent, with numerous further nodules present extending into the transverse mesocolon. Several nodules were adherent to transverse colon, a portion of which had been resected (Figure 1). The nodules showed a homogeneous soft, cream-yellow cut-surface throughout. The gastric mucosa was macroscopically unremarkable. Histological sections demonstrated a tumor, apparently originating within the muscularis propria of the stomach, composedpredominantly of interlacing fascicles of plump spindle cells with minimal cellular pleomorphism (Figure 2).The overlyingmucosawas not ulceratedbut showedmoderate nonspeci¢c gastritis.The tumor cells show strong positive immunostaining for CD117 in a membranous pattern (Figure 3) and also were focally positive for CD34.Tumor cells did not express desmin, smooth muscle actin, or S100 protein.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 3","pages":"259-64"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.3.259.264","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22384272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Pathology of the umbilical cord in adrenal fusion syndrome. 肾上腺融合综合征脐带病理。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01

Ricardo Drut, Rosa Mónica Drut

引用次数: 0

The role of fibroblast transdifferentiation in lung epithelial cell proliferation, differentiation, and repair in vitro. 成纤维细胞转分化在体外肺上皮细胞增殖、分化和修复中的作用。

Pediatric pathology & molecular medicine Pub Date : 2003-05-01 DOI: 10.1080/pdp.22.3.189.207

J S Torday, E Torres, V K Rehan

{"title":"The role of fibroblast transdifferentiation in lung epithelial cell proliferation, differentiation, and repair in vitro.","authors":"J S Torday, E Torres, V K Rehan","doi":"10.1080/pdp.22.3.189.207","DOIUrl":"https://doi.org/10.1080/pdp.22.3.189.207","url":null,"abstract":"Parathyroid hormone-related protein (PTHrP) expression is necessary for differentiation of mesenchymal lipofibroblasts, which induce epithelial type II (TII) cell differentiation, both of which are necessary for alveolarization. PTHrP deficiency may be associated with bronchopulmonary dysplasia (BPD), characterized by truncation of alveolarization among preterm infants. This is supported by the baboon model of BPD (failure of alveolarization) that manifests PTHrP deficiency. We provide evidence that TII cell PTHrP expression is downregulated by alveolar overdistension, resulting in the transdifferentiation of lipofibroblasts to myofibroblasts, characterized by progressive loss of PTHrP receptor expression and triglyceride content, and sequential upregulation of alpha-smooth muscle actin (alphaSMA), typifying fibrosis. PTHrP reverses the downregulation of the PTHrP receptor and upregulation of alphaSMA, reverting myofibroblasts to a lipofibroblast genotype. When TII cells are co-cultured with lipofibroblasts, they proliferate and differentiate, expressing surfactant protein-B; in contrast, TII cells co-cultured with myofibroblasts fail to develop, mimicking the failed alveolarization associated with BPD. Treatment of myofibroblasts with 15-deoxy-Delta 12, 14 prostaglandinJ(2) (PGJ(2)) stimulates ADRP expression, reconstituting the lipofibroblast phenotype. PGJ(2)-treated myofibroblasts promote TII cell growth and surfactant protein-B expression, indicating that failed alveolarization due to transdifferentiation is reversible. We conclude that alveolar overdistension can cause fibroblast transdifferentiation, resulting in failed alveolarization.","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"22 3","pages":"189-207"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.22.3.189.207","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22383755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 132