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Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy

Church, Alanna J
Autor Church, Alanna J ORCID Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
Calicchio, Monica L
Autor Calicchio, Monica L Department of Pathology, Boston Children's Hospital, Boston, MA, USA
Nardi, Valentina
Autor Nardi, Valentina Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Skalova, Alena
Autor Skalova, Alena Department of Pathology, Charles University, Faculty of Medicine in Plzen, Plzen, Czech Republic
Pinto, Andre
Autor Pinto, Andre Department of Pathology, University of Miami, Miami, FL, USA
Dillon, Deborah A
Autor Dillon, Deborah A Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
Gomez-Fernandez, Carmen R
Autor Gomez-Fernandez, Carmen R Department of Pathology, University of Miami, Miami, FL, USA
Manoj, Namitha
Autor Manoj, Namitha ArcherDX, Boulder, CO, USA
Haimes, Josh D
Autor Haimes, Josh D ArcherDX, Boulder, CO, USA
Stahl, Joshua A
Autor Stahl, Joshua A ArcherDX, Boulder, CO, USA
Dela Cruz, Filemon S
Autor Dela Cruz, Filemon S Department of Pediatrics, Memorial Sloan Kettering Cancer Institute, New York, NY, USA
Tannenbaum-Dvir, Sarah
Autor Tannenbaum-Dvir, Sarah Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Columbia University Medical Center, New York, NY, USA
Glade-Bender, Julia L
Autor Glade-Bender, Julia L Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Columbia University Medical Center, New York, NY, USA
Kung, Andrew L
Autor Kung, Andrew L ArcherDX, Boulder, CO, USA
DuBois, Steven G
Autor DuBois, Steven G Department of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, USA
Kozakewich, Harry P
Autor Kozakewich, Harry P Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
Janeway, Katherine A
Autor Janeway, Katherine A Department of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, USA
Perez-Atayde, Antonio R
Autor Perez-Atayde, Antonio R Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
Harris, Marian H
Autor Harris, Marian H Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA

Modern pathology. 2018 Mar ; 31 (3) : 463-473. [epub] 20171103

Mod Pathol
ISSN 1530-0285 | 0893-3952
Zdroj

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu časopisecké články

Perzistentní odkaz https://www.medvik.cz/link/pmid29099503

Grantová podpora
P30 CA013696 NCI NIH HHS - United States

PubMed 29099503
DOI 10.1038/modpathol.2017.127
PII: S0893-3952(22)01196-6
Knihovny.cz E-zdroje

Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4-NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital mesoblastic nephroma, demonstrating that the EML4-NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

ArcherDX Boulder CO USA

Department of Pathology Boston Children's Hospital and Harvard Medical School Boston MA USA

Department of Pathology Boston Children's Hospital Boston MA USA

Department of Pathology Brigham and Women's Hospital and Harvard Medical School Boston MA USA

Department of Pathology Charles University Faculty of Medicine in Plzen Plzen Czech Republic

Department of Pathology Massachusetts General Hospital and Harvard Medical School Boston MA USA

Department of Pathology University of Miami Miami FL USA

Department of Pediatric Hematology Oncology Dana Farber Boston Children's Cancer and Blood Disorders Center and Harvard Medical School Boston MA USA

Department of Pediatrics Memorial Sloan Kettering Cancer Institute New York NY USA

Division of Pediatric Hematology Oncology and Stem Cell Transplantation Columbia University Medical Center New York NY USA

Zobrazit více v PubMed

J Biol Chem. 2004 Feb 20;279(8):6225-34 PubMed