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

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RESEARCH PRODUCT

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

Isidro Machado Samuel Navarro Joaquin Donat Rosa Noguera Marta Baragaño Rafael Fernandez-delgado Agustín Acevedo Nuria Santonja

subject

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 N-Myc Proto-Oncogene Protein 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

description

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.

year	journal	country	edition	language
2010-03-01	Applied Immunohistochemistry & Molecular Morphology

https://doi.org/10.1097/pai.0b013e3181b91a51