TY - JOUR
T1 - Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue
T2 - Application to challenging pediatric renal stromal tumors
AU - Argani, Pedram
AU - Fritsch, Michael
AU - Kadkol, ShriHari S.
AU - Schuster, Amy
AU - Beckwith, J. Bruce
AU - Perlman, Elizabeth J.
N1 - Funding Information:
Acknowledgments: We are indebted to Helen Fedor for preparing sections for RNA extraction and to Lisa Madden for typing the manuscript. We thank the following pathologists for providing tissue blocks for this study: Roger Williams, M.D. (Oakland, CA), Laura Finn, M.D. (Seattle, WA), and Kathleen Hei- delberger, M.D. (Ann Arbor, MI). Special thanks are due to Nancy Browning, whose organization of the National Wilms Tumor Study Pathology Center allowed this study and others to be performed. The National Wilms Tumor Study Group is supported primarily by United States Public Health Service Grant no. CA-42386.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2000/1
Y1 - 2000/1
N2 - We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric RNA characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. The 188 base pair polymerase chain reaction fusion product was detected in 11 of 12 cases of cellular CMN from which a larger sized control RNA band could be amplified, and even in 7 of 8 cases in which the control band was not detectable. A variety of other tumors that are in the histologic differential diagnosis of cellular CMN yielded negative results, including four classic CMNs, four rhabdoid tumors of the kidney, and four clear cell sarcomas of the kidney, confirming the assay's specificity. We further demonstrate the assay's utility by illustrating two cases of molecularly confirmed cellular CMN that mimicked rhabdoid tumor and clear cell sarcoma of the kidney. In contrast to previous reports, five mixed CMNs that had both classic and cellular areas all lacked the ETV6-NTRK3 fusion transcript. These results suggest that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.
AB - We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric RNA characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. The 188 base pair polymerase chain reaction fusion product was detected in 11 of 12 cases of cellular CMN from which a larger sized control RNA band could be amplified, and even in 7 of 8 cases in which the control band was not detectable. A variety of other tumors that are in the histologic differential diagnosis of cellular CMN yielded negative results, including four classic CMNs, four rhabdoid tumors of the kidney, and four clear cell sarcomas of the kidney, confirming the assay's specificity. We further demonstrate the assay's utility by illustrating two cases of molecularly confirmed cellular CMN that mimicked rhabdoid tumor and clear cell sarcoma of the kidney. In contrast to previous reports, five mixed CMNs that had both classic and cellular areas all lacked the ETV6-NTRK3 fusion transcript. These results suggest that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.
KW - Congenital mesoblastic nephroma
KW - Infantile fibrosarcoma
KW - Reverse transcriptase polymerase chain reaction
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U2 - 10.1038/modpathol.3880006
DO - 10.1038/modpathol.3880006
M3 - Article
C2 - 10658907
AN - SCOPUS:0033976007
VL - 13
SP - 29
EP - 36
JO - Modern Pathology
JF - Modern Pathology
SN - 0893-3952
IS - 1
ER -