Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues.

@article{Sheng2001CongenitalinfantileFA,
  title={Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues.},
  author={Weiqi Sheng and Masanori Hisaoka and Sumika Okamoto and Atsushi Tanaka and Jeanne M. Meis-Kindblom and Lars Gunnar Kindblom and T Ishida and Takayuki Nojima and Hiroshi Hashimoto},
  journal={American journal of clinical pathology},
  year={2001},
  volume={115 3},
  pages={
          348-55
        }
}
Congenital-infantile fibrosarcoma (CIFS) is a relatively indolent sarcoma that should be distinguished from more aggressive spindle cell sarcomas of childhood. CIFSs have been found to have a novel recurrent reciprocal translocation t(12;15)(p13;q25) resulting in the gene fusion ETV6-NTRK3 (ETS variant gene 6; neurotrophic tyrosine kinase receptor type 3). We studied immunohistochemical expression of NTRK3, and conducted a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect… 
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Evaluation of a Congenital Infantile Fibrosarcoma by Comprehensive Genomic Profiling Reveals an LMNA-NTRK1 Gene Fusion Responsive to Crizotinib.
TLDR
Given the metastatic behavior of this lesion and the lack of the canonical fusion associated with CIFS, spindle cell sarcoma and ex-dermatofibrosarcoma protuberans were considered as diagnoses, but FISH for the pathognomonic DFSP-PDGFRB fusion was also negative.
Primary synovial sarcoma of the kidney: Report of a case confirmed by molecular detection of the SYT‐SSX2 fusion transcripts
TLDR
The case report indicates that synovial sarcoma should be taken into account for the differential diagnosis of renal spindle cell tumors and the molecular assay detecting the SYT‐SSX fusion transcripts is useful for the final diagnosis of synovials arising in an unusual location.
Infantile NTRK-associated Mesenchymal Tumors
TLDR
6 patients with mesenchymal tumors composed of infiltrative fibroblastic/myofibro Blastic tumor cells and showing a morphologic spectrum of features much analogous to that previously described in CIFS but without ETV6 fusion transcripts are described.
Novel NTRK3 Fusions in Fibrosarcomas of Adults
TLDR
The clinicopathologic and genetic spectrum of sarcomas associated with NTRK fusions are expanded, and it is suggested that CD34-positive fibrosarcoma of bone and soft tissue could be a good candidate for N TRK testing.
Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma.
Recurrent EML4–NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy
TLDR
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.
Congenital/Infantile Fibrosarcoma of the Colon: Morphologic, Immunohistochemical, Molecular, and Ultrastructural Features of a Relatively Rare Tumor in an Extraordinary Localization
TLDR
The algorithm for the diagnosis of congenital/infantile fibrosarcoma, especially outside the usual localizations, should comprise morphologic, immunohistochemical, molecular, and ultrastructural studies.
Expanding the Spectrum of Pediatric NTRK-rearranged Mesenchymal Tumors
TLDR
Pediatric NTRK-rearranged mesenchymal tumors with both classic and variant fusions likely represent a spectrum of disease with shared, recognizable cliniopathologic features.
Aberrant Immunohistochemical Expression in Nonrhabdomyosarcoma Soft Tissue Sarcomas of Infancy: Retrospective Review of Clinical Material
TLDR
In this series, tumors classified as soft tissue PNETs had a poor prognosis despite aggressive treatment, but once RMS, PNET, and other rare specific lesions are excluded, the remaining undifferentiated sarcomas appear to behave in a similar favorable manner to infantile fibrosarcoma.
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review.
TLDR
A meningeal CIFS diagnosed in a fetus at 40 weeks of gestation with a severe right hydrocephalus due to a large tumor invading the left hemisphere and ventricles was discovered in the fetus, and medical termination of the pregnancy was achieved.
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References

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TLDR
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 in formalin-fixed, paraffin-embedded tissue blocks suggests that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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