Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor

التفاصيل البيبلوغرافية
العنوان: Immunohistochemical Study as a Tool in Differential Diagnosis of Pediatric Malignant Rhabdoid Tumor
المؤلفون: Isidro Machado, Samuel Navarro, Joaquin Donat, Rosa Noguera, Marta Baragaño, Rafael Fernandez-Delgado, Agustín Acevedo, Nuria Santonja
المصدر: Applied Immunohistochemistry & Molecular Morphology. 18:150-158
بيانات النشر: Ovid Technologies (Wolters Kluwer Health), 2010.
سنة النشر: 2010
مصطلحات موضوعية: Hepatoblastoma, Pathology, medicine.medical_specialty, Skin Neoplasms, Histology, Desmoplastic small-round-cell tumor, Chromosomal Proteins, Non-Histone, CD99, 12E7 Antigen, N-Myc Proto-Oncogene Protein, Pathology and Forensic Medicine, Diagnosis, Differential, Neoplasms, Multiple Primary, Fatal Outcome, Antigens, CD, Neuroblastoma, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Vimentin, Rhabdoid Tumor, Chromosome Aberrations, Oncogene Proteins, business.industry, Liver Neoplasms, Infant, Newborn, Infant, Nuclear Proteins, Wilms' tumor, SMARCB1 Protein, medicine.disease, Immunohistochemistry, DNA-Binding Proteins, Medical Laboratory Technology, Drug Resistance, Neoplasm, Keratins, Female, Sarcoma, RNA-Binding Protein EWS, Differential diagnosis, business, Cell Adhesion Molecules, Transcription Factors
الوصف: Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alterations of 22q integrity were demonstrated with the probes used for the study (N25 Di George/22q11.2, 22qter, and EWS/22q12). We discuss the differential diagnosis in pediatric polyphenotypic tumors (Wilms tumor, neuroblastoma, desmoplastic small round cell tumor, and Ewing sarcoma). Analysis of INI1/BAF-47 expression can offer important clues in the diagnosis of pediatric tumors with rhabdoid phenotype. The integration of clinical, morphologic, immunohistochemical, and genetic data is required to approach a correct diagnosis of pediatric tumor in unusual location with atypical or undifferentiated morphology.
تدمد: 1541-2016
DOI: 10.1097/pai.0b013e3181b91a51
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78e835fe941ae56274d98bc40c46a321
https://doi.org/10.1097/pai.0b013e3181b91a51
رقم الانضمام: edsair.doi.dedup.....78e835fe941ae56274d98bc40c46a321
قاعدة البيانات: OpenAIRE
الوصف
تدمد:15412016
DOI:10.1097/pai.0b013e3181b91a51