Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: Application to challenging pediatric renal stromal tumors

Pedram Argani; Michael Fritsch; ShriHari S. Kadkol; Amy Schuster; J. Bruce Beckwith; Elizabeth J. Perlman

doi:10.1038/modpathol.3880006

Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: Application to challenging pediatric renal stromal tumors

Pedram Argani^*, Michael Fritsch, ShriHari S. Kadkol, Amy Schuster, J. Bruce Beckwith, Elizabeth J. Perlman

^*Corresponding author for this work

Pathology

Research output: Contribution to journal › Article › peer-review

135 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	29-36
Number of pages	8
Journal	Modern Pathology
Volume	13
Issue number	1
DOIs	https://doi.org/10.1038/modpathol.3880006
State	Published - Jan 2000

Funding

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.

Keywords

Congenital mesoblastic nephroma
Infantile fibrosarcoma
Reverse transcriptase polymerase chain reaction

ASJC Scopus subject areas

Pathology and Forensic Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/modpathol.3880006

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title = "Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: Application to challenging pediatric renal stromal tumors",

abstract = "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.",

keywords = "Congenital mesoblastic nephroma, Infantile fibrosarcoma, Reverse transcriptase polymerase chain reaction",

author = "Pedram Argani and Michael Fritsch and Kadkol, {ShriHari S.} and Amy Schuster and Beckwith, {J. Bruce} and Perlman, {Elizabeth J.}",

note = "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.",

year = "2000",

month = jan,

doi = "10.1038/modpathol.3880006",

language = "English (US)",

volume = "13",

pages = "29--36",

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Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: Application to challenging pediatric renal stromal tumors. / Argani, Pedram; Fritsch, Michael; Kadkol, ShriHari S. et al.
In: Modern Pathology, Vol. 13, No. 1, 01.2000, p. 29-36.

Research output: Contribution to journal › Article › peer-review

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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.

PY - 2000/1

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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.

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KW - Infantile fibrosarcoma

KW - Reverse transcriptase polymerase chain reaction

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Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: Application to challenging pediatric renal stromal tumors

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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