Mesenchymal tumors of the gastrointestinal tract with NTRK rearrangements: a clinicopathological, immunophenotypic, and molecular study of eight cases, emphasizing their distinction from gastrointestinal stromal tumor (GIST).

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Mazen A AtiqAdrián Mariño-Enríquez

Abstract

Mesenchymal tumors driven by NTRK fusions are clinically and morphologically heterogeneous. With an increasing number of clinicopathological entities being associated with NTRK fusions, the diagnostic and predictive value of the identification of NTRK fusions is uncertain. Recently, mesenchymal tumors in the gastrointestinal tract with NTRK fusions were described as gastrointestinal stromal tumors (GIST), but the nosology of such neoplasms remains controversial. We report eight mesenchymal tumors involving the gastrointestinal tract with NTRK1 or NTRK3 rearrangements. The tumors occurred in six children and two adults, five males and three females (age range 2 months-55 years; median 3.5 years), and involved the small intestine (n = 4), stomach (n = 2), rectum (n = 1), and mesentery (n = 1). Clinical outcomes were variable, ranging from relatively indolent (n = 2) to aggressive diseases (n = 2). Morphologically, the tumors were heterogeneous and could be classified in the following three groups: (1) infantile fibrosarcoma involving the gastrointestinal tract (n = 4), enriched for NTRK3 fusions; (2) low-grade CD34-positive, S100 protein-positive spindle-cell tumors, associated with NTRK1 fusions (n = 2); and (3) unclassified hig...Continue Reading

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Citations

Nov 5, 2020·Cold Spring Harbor Molecular Case Studies·Dong-Anh Khuong-QuangPaul G Ekert
Jan 21, 2021·Current Oncology·D Gwyn BebbMing-Sound Tsao
Apr 4, 2021·Diagnostics·Vasiliki SiozopoulouPatrick Pauwels
Apr 14, 2021·Annales de pathologie·Arnaud UguenJulien Adam
May 15, 2021·Current Opinion in Oncology·Nils DieckmannSebastian Bauer
Apr 20, 2021·Current Opinion in Oncology·César Serrano

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Methods Mentioned

BETA
SMA
surgical resection
dissecting
RNAseq

Software Mentioned

GeneTrails

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