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Fibrosarcoma
Published in Dongyou Liu, Tumors and Cancers, 2017
Molecularly, 70% of infantile or congenital fibrosarcoma contain a characteristic t(12;15)(p13;q26), which leads to an ETV6-NTRK3 gene fusion product (ETS variant gene 6 and neurotrophic tyrosine kinase receptor type 3).
A Parotid Gland Mammary Analogue Secretory Carcinoma in a 4-Year-Old Boy: Case Report and Literature Review
Published in Fetal and Pediatric Pathology, 2023
Zhao Meng, Wu Si, Zhu Xiuli, Yueping Liu
The well-defined white–grey and yellow mass was 25 mm × 20 mm × 5mm. The tumor was composed of mildly atypical cuboidal epithelial cells with a central round nucleus, vesicular chromatin, with eosinophilic cytoplasm. The cells were arranged in solid, tubular, and papillary growth patterns, with homogenous eosinophilic secretions inside microcystic structures (Fig. 1). The tumor had infrequent mitoses. There was stromal invasion, but no vascular or perineural invasion. There was no necrosis. Immunohistochemical stains showed strong, diffuse staining for CK7, S100, pan-TRK protein, local staining for mammaglobin, with a KI-67 labeling index of 15%. P63 was positive in a peripheral pattern (Fig. 2). There was no expression of CK5/6, C-KIT, DOG-1. Fluorescence in situ hybridization (FISH) analysis showed the characteristic ETV6-NTRK3 gene fusion (Fig. 3). The diagnosis of MASC was thus established.
Fetal Mediastinal Fibrosarcoma. Report of Two Cases
Published in Fetal and Pediatric Pathology, 2022
Murat Cagan, Selma Yildirim, Gulenay Gencosmanoglu Turkmen, Ozgur Ozyuncu, Zuhal Akcoren, Ozgur Deren, Safak Gucer
Histopathologically, there are poorly circumscribed lobulated mass of fusiform or ovoid cells in fascicles or herringbone pattern with high cellularity, nuclear atypia, and pleomorphism in CF as were in our cases. Increased mitotic figures, hemorrhage and necrosis are occasionally seen. There is often infiltration of adjacent soft tissue and prominent vascularization. Immunohistochemistry demonstrates positivity with vimentin. There is no specific immunohistochemistry profile and in some cases focal positivity can be seen with desmin, SMA, S100 and CD34 [13,14]. However, 70% of CF have translocation t(12;15)(p13;q25), which causes ETV6-NTRK3 gene fusion detectable by FISH or Reverse Transcriptase Polymerase Chain Reaction. The ETV6-NTRK3 gene fusion is potentially a useful diagnostic tool since it has not been detected in other soft tissue spindle cell lesions [8,15]. In our cases, tumors were diagnosed as CF with histopathological and immunohistochemical findings, despite negative FISH results for the ETV6-NTRK3 gene fusion.
Systemic therapy of advanced/metastatic gastrointestinal stromal tumors: an update on progress beyond imatinib, sunitinib, and regorafenib
Published in Expert Opinion on Investigational Drugs, 2021
Mahmoud Mohammadi, Hans Gelderblom
The NTRK genes (NTRK1, NTRK2, NTRK3) encode the tropomyosin receptor kinase (TRK) proteins. NTRK gene fusions leading to the sustained activity of TRK, occur in various cancer types [50,51]. In genomic profiling of 24 GIST patients with no mutations in the KIT/PDGFRA/RAS pathway, two patients with an ETV6-NTRK3 gene fusion were identified [47]. A phase 1 study 52, evaluating the efficacy of larotrectinib, a selective NTRK inhibitor, included 55 patients with various tumors exhibiting NTRK fusions. Three of them were GIST patients. A partial response was observed in all 3 GIST patients. Although an NTRK fusion is rare in GIST, results with NTRK inhibitors are promising and therefore a screening strategy to identify patients with NTRK fusions will be needed.