Despite the rare occurrence, these alterations have gained importance owing to approval of drugs like entrectinib and larotrectinib targeting the kinase domain of the gene. Detection of these rests on the use of conventional modalities like Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH); however, accurate characterization requires direct sequencing methods. We report an interesting case of an NTRK fusion-positive NSCLC, exhibiting good response to entrectinib.

9 months ago

Journal

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • ETV6 (ETS Variant Transcription Factor 6) • SQSTM1 (Sequestosome 1) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • NTRK3 fusion • SQSTM1-NTRK1 fusion • EML4-NTRK3 fusion • NTRK positive • NTRK fusion

Vitrakvi (larotrectinib) • Rozlytrek (entrectinib)

over2years

An impressive response with larotrectinib in a patient with a papillary thyroid carcinoma harboring an SQSTM1-NTRK1 fusion. (PubMed, Eur J Endocrinol)

Dramatic clinical responses to therapies targeting NTRK chimeric proteins are now well described in the literature. SQSTM1-NTRK1 fusions have not yet been described in a full clinical case report : we report a patient with a papillary thyroid carcinoma harboring this unique rearrangement, with an impressive clinical and radiologic response to larotrectinib, a highly specific inhibitor.

over 2 years ago

Journal

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • SQSTM1 (Sequestosome 1) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • SQSTM1-NTRK1 fusion • NTRK fusion

Vitrakvi (larotrectinib)

3years

[VIRTUAL] Case of an Infantile Mesenchymal Tumor With Novel SQSTM1-MET Fusion (CAP 2021)

It is plausible that the gene fusion seen in this case, though previously not described, may represent a clinically targetable alteration. This case report illustrates a novel SQSTM1-MET fusion tumor, expanding the spectrum of fusions seen in pediatric mesenchymal tumors.

3 years ago

Clinical

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • CD34 (CD34 molecule) • SQSTM1 (Sequestosome 1)

NTRK1 fusion • SQSTM1-NTRK1 fusion • MET fusion

over3years

NTRK Fusion Genes in Thyroid Carcinomas: Clinicopathological Characteristics and Their Impacts on Prognosis. (PubMed, Cancers (Basel))

Tumor size, presence of metastases, positivity for the NTRK3 or NTRK1 fusion gene and a late mutation event (TERT or TP53 mutation) were determined as factors affecting patient prognosis. NTRK fusion genes are valuable diagnostic and prognostic markers.

over 3 years ago

Clinical • Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • ETV6 (ETS Variant Transcription Factor 6) • TPM3 (Tropomyosin 3) • SQSTM1 (Sequestosome 1) • NTRK (Neurotrophic receptor tyrosine kinase) • PAX8 (Paired box 8)

TP53 mutation • KRAS mutation • BRAF mutation • NTRK1 fusion • SQSTM1-NTRK1 fusion • TERT mutation • NTRK1 positive • NTRK positive • TPR-NTRK1 fusion • NTRK fusion

almost4years

[VIRTUAL] NTRK-Rearranged Spindle Cell Neoplasm: A Clinicopathologic and Molecular Study of 9 Cases Revealed Two Novel Fusion Genes in One of the Largest Institution of Southwest China (USCAP 2021)

This study presents the first series of NTRK -rearranged spindle cell neoplasm in Chinese children. We identified two novel fusion genes, which has not been reported in mesenchymal tumors, although one has been reported in single case of lung cancer. Well understanding the clinicopathologic features and molecular pathogenesis are helpful in selecting patients for TRK-targeted therapy.

almost 4 years ago

Clinical

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • TPM3 (Tropomyosin 3) • CD34 (CD34 molecule) • LMNA (Lamin A/C) • SQSTM1 (Sequestosome 1) • SOX10 (SRY-Box 10) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • SQSTM1-NTRK1 fusion