INI1 (BAF 47) immunohistochemistry is an essential diagnostic tool for children with hepatic tumors and low alpha fetoprotein.
Malignant rhabdoid tumor (MRT) of the liver is a rare malignancy with grave prognosis. This entity should be considered in the differential diagnosis of any aggressive liver tumor with low levels of alpha fetoprotein. We report 2 cases of hepatic MRT presenting in infancy. In these 2 cases, we show that loss of INI1 facilitates making the correct diagnosis of primary hepatic MRT utilizing BAF 47 (INI1 gene product) immunostains. Difficulty encountered in making this rare diagnosis, including the need for repeated biopsies, can be avoided if MRT is considered in the differential diagnosis early on and BAF 47 immunohistochemistry is ordered.
Al Nassan
Anwar
A
Departments of Pediatric Oncology, University of Bern, Bern, Switzerland.
Sughayer
Maher
M
Matalka
Ismail
I
Ghandour
Khalil
K
Masarweh
Main
M
Zimmermann
Arthur
A
Sultan
Iyad
I
D014408:Biomarkers, Tumor / Q000032:analysis*; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis*; D004268:DNA-Binding Proteins / Q000032:analysis*; D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008113:Liver Neoplasms / Q000175:diagnosis*; D008297:Male; D018335:Rhabdoid Tumor / Q000175:diagnosis*; D000071796:SMARCB1 Protein; D014157:Transcription Factors / Q000032:analysis*; D000509:alpha-Fetoproteins / Q000032:analysis*
D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; D000509:alpha-Fetoproteins