This study highlights the genomic landscape of advanced GISTs and the important role of CGP in identifying rational molecular-targeted therapeutic options.

2 months ago

Retrospective data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • Stroma • Metastases

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • STK11 (Serine/threonine kinase 11) • HRD (Homologous Recombination Deficiency) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • NTRK (Neurotrophic receptor tyrosine kinase) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

TMB-H • NTRK3 fusion • HRD • ETV6-NTRK3 fusion • PDGFRA mutation • PDGFR wild-type

Keytruda (pembrolizumab)

2ms

Do not Judge a book by its Cover: A Secretory Carcinoma Arising from a Salivary Gland Heterotopia in Laterocervical lymph-node. (PubMed, Head Neck Pathol)

Tumours arising on HSGT, share histological similarities with those affecting orthotopic salivary glands. This unique case expands the understanding of SC occurrences on HSGT.

2 months ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

2ms

Crizotinib (Xalkori) Expanded Access Protocol for the Treatment of Adult or Pediatric Patients (clinicaltrialsregister.eu)

P4, N=14, Pfizer, Inc

2 months ago

New P4 trial

ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ALK mutation • ETV6-NTRK3 fusion • ALK translocation

Xalkori (crizotinib)

3ms

Unmasking the rarity of mammary analogue secretory carcinoma of the minor salivary gland - A case report. (PubMed, Int J Surg Case Rep)

MASC is an important molecularly defined entity of the salivary gland with low-grade malignant potential. Correct diagnosis is essential for appropriate treatment and will help to provide better information about this potentially low-grade malignant salivary gland neoplasm.

3 months ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

ETV6-NTRK3 fusion

3ms

AB055. Infantile high-grade glioma (IHG)-a case series of Hong Kong experience. (PubMed, Chin Clin Oncol)

Infantile high-grade glioma should be regarded as a unique tumor entity and a multidisciplinary approach is paramount in improving survival for this group of patients.

3 months ago

Retrospective data • Journal

ALK (Anaplastic lymphoma kinase) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase) • HMBOX1 (Homeobox Containing 1)

NTRK1 fusion • NTRK3 fusion • ALK fusion • ETV6-NTRK3 fusion • ROS1 fusion • ALK-ROS1 fusion • TPR-NTRK1 fusion • NTRK fusion

7ms

Utility of Clinical Next Generation Sequencing Tests in KIT/PDGFRA/SDH Wild-Type Gastrointestinal Stromal Tumors. (PubMed, Cancers (Basel))

Compared to KIT/PDGFRA-mutant GIST, limited benefit was observed with imatinib in triple-negative GIST. In depth molecular profiling can be helpful in identifying driver mutations and guiding therapy.

7 months ago

Journal • Next-generation sequencing • Stroma

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • AURKA (Aurora kinase A) • SDHC (Succinate Dehydrogenase Complex Subunit C) • SDHD (Succinate Dehydrogenase Complex Subunit D) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

TP53 mutation • BRAF V600E • BRAF V600 • NTRK3 fusion • PTEN deletion • PTEN mutation • NF1 mutation • ETV6-NTRK3 fusion • CHEK2 mutation • PDGFRA mutation • FANCA mutation • FGFR1 fusion • FANCA deletion • PDGFR wild-type

imatinib

10ms

Stratified application of gene expression in diagnosis of thyroid nodules (PubMed, Zhonghua Bing Li Xue Za Zhi)

Moreover, multigene detection is superior to single gene detection. For BSRTC Ⅲ lesion with wild-type BRAF, multigene detection can be considered with a repeated FNA.

10 months ago

Journal

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • CCDC6 (Coiled-Coil Domain Containing 6) • ETV6 (ETS Variant Transcription Factor 6)

BRAF V600E • KRAS mutation • BRAF V600 • NTRK3 fusion • BRAF wild-type • ETV6-NTRK3 fusion

10ms

Diagnostic Utility of Expression Pattern of S100/Mammaglobin/SOX10/DOG 1 Immunohistochemistry in Differentiation of Secretory and Acinic Cell Carcinoma: A Systematic Review and Meta-Analysis. (PubMed, Indian J Otolaryngol Head Neck Surg)

Fourteen eligible articles were analysed, which revealed predominant immunostaining pattern of S100 + /Mammaglobin + /SOX10 + /DOG1- by nearly all ETV6::NTRK3 fusion prevalent SCs alongside with other gene fusions like RET, MET and MAML3 with 98.4% sensitivity as well as 86.1% specificity. The evidence supports that S100/Mammaglobin/SOX10/DOG1 combined immunostaining can serve as a reliable diagnostic method to differentiate secretory from acinic cell carcinoma.

10 months ago

Retrospective data • Review • Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • SOX10 (SRY-Box 10) • ANO1 (Anoctamin 1)

NTRK3 fusion • ETV6-NTRK3 fusion

10ms

Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma. (PubMed, Cureus)

Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.

10 months ago

Journal • MRI

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

11ms

Efficacy of fine needle aspiration cytology in diagnosing Secretory Carcinoma of salivary gland: A systematic review and meta-analysis. (PubMed, Acta Cytol)

Recognition of subtle cytomorphological patterns, i.e., papillary formation, clusters and singly dispersed cells along with presence of fine intracytoplasmic vacuolations were the characteristic findings in majority of cases, confirmed with diagnostic molecular profiling. This may be helpful in identification of this rare entity with limited published literature and help in increasing diagnostic accuracy.

11 months ago

Retrospective data • Review • Cytology

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

11ms

Validation and interpretation of Pan-TRK immunohistochemistry: a practical approach and challenges with interpretation. (PubMed, Diagn Pathol)

Pan-TRK IHC shows some utility as a diagnostic and surrogate marker for NTRK screening however, physiologic or non-specific expression may lead to false-positive results.

11 months ago

Journal

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase) • TPM4 (Tropomyosin 4)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 positive • TPM4-NTRK3 fusion • NTRK fusion

VENTANA pan-TRK (EPR17341) Assay

12ms

ETV6::NTRK3 gene fusion in a patient with metastatic lung atypical carcinoid successfully treated with repotrectinib: A case report. (PubMed, Lung Cancer)

To the best of our knowledge, we reported the first case demonstrating anti-tumor activity of repotrectinib in a patient with AC carring an ETV6-NTRK3 gene fusion, indicating that repotrectinib may be an efficient therapeutic option for tumors with NTRK gene rearrangements.

12 months ago

Clinical • Observational data • Retrospective data • Review • Clinical Trial,Phase I • Clinical Trial,Phase II • Journal • Metastases

NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • ETV6-NTRK3 fusion

everolimus • Augtyro (repotrectinib) • VC004

1year

MASC Gets UNMASKED: Visiting a Rare Tumor with Emphasis on Cytomorphological Features. (PubMed, J Cytol)

The results of the current study highlight the cytomorphological features which may help in clinching the diagnosis SC on cytology itself. They also highlight certain cytological features which help to rule out the other differential diagnoses.

1 year ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

1year

Secretory Carcinoma with ETV6-NTRK3 Gene Fusion and Lymph Node Metastasis in Maxillary Gingiva: A Case Report with Pathological and Molecular Correlative Studies. (PubMed, Ann Clin Lab Sci)

Next-generation sequencing revealed t(12;15)(p13;q25) ETV6-NTRK3 translocation. Because SC/MASCs harbor the ETV6-NTRK3 translocation, molecular studies and immunostains are crucial to confirm the diagnosis and direct therapy.

1 year ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 translocation

1year

Salivary Gland Secretory Carcinoma; Review of 13 Years World-Wide Experience and Meta-Analysis. (PubMed, Laryngoscope)

Secretory Carcinoma is a rare and relatively newly defined entity arising in the parotid gland most commonly. Characterized as a low-grade tumor, the majority of patients are diagnosed at an early stage, without regional or distant disease, and the prognosis is relatively good.

1 year ago

Retrospective data • Review • Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

ETV6-NTRK3 fusion

1year

Secretory carcinoma of major and minor salivary glands with ETV6-NTRK3 gene fusion: overcoming misdiagnosis in the era of tumour-agnostic therapy with TRK inhibitors. (PubMed, Contemp Oncol (Pozn))

In summary, emphasizing the risk of misdiagnosis is pivotal in the context of SC of the salivary gland, which can manifest across diverse glandular sites. Accurate diagnosis, underscored by the assessment of NTRK3 gene rearrangements, assumes a critical role in guiding effective management and treatment decisions.

1 year ago

Journal • Pan tumor

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

1year

A case report and literature review on a rare subtype of triple-negative breast cancer in children. (PubMed, BMC Pediatr)

SBC is highly prevalent among the multiple pathological types of pediatric breast cancer. Almost all pediatric SBC patients are characterized by the ETV6-NTRK3 fusion gene, which has a good prognosis and a 10-year survival rate of more than 90% when compared with other TNBC subtypes. According to the patient, we performed local mass resection and a postoperative pathological diagnosis of SBC (a subtype of BL-TNBC). The TNBC case had a good prognosis and differed from basal TNBC in several aspects, including clinical presentation, treatment, and prognosis. It is necessary to exclude SBC from BL-type TNBC, enhance understanding of the disease, and individualize the treatment plan, so as to avoid medical errors.

1 year ago

Review • Journal

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

1year

The Role of Novel Immunohistochemical Markers for Special Types of Breast Carcinoma. (PubMed, Adv Anat Pathol)

Immunohistochemical antibodies have emerged that identify the underlying genetic alterations in these tumors and serve as useful diagnostic tools. This review will provide an update on the molecular features and diagnostic immunohistochemical markers that have become increasingly popular to aid in diagnosing these uncommon triple-negative breast tumors.

1 year ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • MYB (MYB Proto-Oncogene, Transcription Factor) • NFIB (Nuclear Factor I B)

NTRK3 fusion • HER-2 expression • ETV6-NTRK3 fusion • MYB-NFIB fusion

1year

Report and follow-up on two new patients with congenital mesoblastic nephroma. (PubMed, Ital J Pediatr)

The finding of a fetal abdominal mass should prompt suspicion of CMN, especially if it is associated with polyhydramnios; it should also alert obstetricians and neonatologists to the risk of preterm delivery. Although being a usually benign condition, CMN may be associated with neonatal systemic-metabolic or postoperative complications. High-level surgical expertise, careful neonatological intensive care and histopathological/cytogenetic-molecular definition are the cornerstones for the optimal management of patients. This should also include an individualized follow-up, oriented to the early detection of any possible recurrences or associated anomalies and to a better quality of life of children and their families.

1 year ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 translocation

1year

PAPILLARY THYROID CANCERS WITH NTRK FUSION MUTATIONS: BENIGN CYTOLOGIC APPEARANCE AND CLINICALLY AGGRESSIVE DISEASE (ATA 2023)

Although rare, NTRK fusion mutations are now recognized in 5‐6% of adults with PTC. Tumors with this mutation had a high likelihood of multifocality, extrathyroidal extension, vascular invasion, lymph node metastases, and distant metastases.

1 year ago

Clinical

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK3 fusion • ETV6-NTRK3 fusion • ETV6 mutation • NTRK fusion

1year

MAMMARY ANALOG SECRETORY CARCINOMA: A CASE REPORT OF A RARE THYROID CANCER (ATA 2023)

After discussion of the case in tumor board, larotrectinib and external beam radiation therapy were initiated...Successful treatments involve immunotherapy and radiation. It is critical to be aware of this pathology, and to identify it expediently so as to avoid inappropriate treatment in these patients.

1 year ago

Clinical

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

ETV6-NTRK3 fusion

Vitrakvi (larotrectinib)

over1year

Nuclear staining for pan-Trk by immunohistochemistry is highly specific for secretory carcinoma of breast: pan-Trk in various subtypes of breast carcinoma. (PubMed, J Clin Pathol)

Our results indicate that pan-Trk nuclear staining is highly specific for SCB. In low-grade to intermediate-grade IBCs that share histological features with SCB, adding pan-Trk to a routing panel of estrogen receptor/progesterone receptor/HER2 is highly diagnostic. Our results also support using pan-Trk IHC to differentiate SCB from its triple-negative histological mimickers, such as adenoid cystic carcinoma, matrix-producing carcinoma, apocrine carcinoma and acinic cell carcinoma.

over 1 year ago

Journal

HER-2 positive • ER positive • HER-2 negative • NTRK3 fusion • ETV6-NTRK3 fusion

over1year

GENOMIC ALTERATIONS IN ADVANCED GASTROINTESTINAL STROMAL TUMORS AS REVEALED BY COMPREHENSIVE GENOMIC PROFILING TESTS (CTOS 2023)

Fifty-four patients (38%) underwent CGP tests using specimens obtained before initiating treatment with imatinib and 90 (63%) using specimens obtained after imatinib. The present study highlights that approximately 25% and 50% of patients in each KIT/PDGFRA and wild-type group exhibit targetable GAs, thereby illustrating the clinical utility of CGP tests in identifying therapeutic targets in advanced GISTs.

over 1 year ago

Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • Stroma • Metastases

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

TP53 mutation • BRAF V600E • TMB-H • MSI-H/dMMR • HER-2 amplification • BRAF V600 • NTRK3 fusion • STK11 mutation • ETV6-NTRK3 fusion • PDGFRA D842V • PDGFRA mutation • TSC1 mutation • PDGFR wild-type

FoundationOne® CDx • OncoGuide™ NCC Oncopanel System

Keytruda (pembrolizumab) • Vitrakvi (larotrectinib) • Rozlytrek (entrectinib) • imatinib

over1year

LONGITUDINAL FOLLOW UP OF GASTROINTESTINAL STROMAL TUMORS:DATA FROM THE LIFE RAFT GROUP INTERANTIONAL PATIENT REGISTRY (CTOS 2023)

LRG patient registry enables a deeper comprehension of the disease's natural progression, encompassing treatment records and patient survival data. Further studies investigating the negative prognosis of male patients are needed to identify any factors contributing to poorer outcomes in this specific population. The median RFS time may not always be a reliable indicator to assess the effectiveness of adjuvant treatment.

over 1 year ago

Clinical • Stroma

BRAF (B-raf proto-oncogene) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • PTCH1 (Patched 1)

NTRK3 fusion • KIT mutation • ETV6-NTRK3 fusion • PTCH1 mutation

over1year

CLINICO-GENOMIC ANALYSIS OF KIT/PDGFRA/SDH WILD-TYPE GASTROINTESTINAL STROMAL TUMORS IDENTIFIES POTENTIAL DRIVER MUTATIONS (CTOS 2023)

The patient with ETV6-NTRK3 fusion was treated with larotrectinib for 28.7 months prior to progression, likely due to acquired NTRK3 gatekeeper mutation (F617L) rendering resistance to larotrectinib, then was on a second generation NTRK inhibitor, selitrectinib, for 16.5 months prior to progression. Triple negative GISTs comprise a diverse cohort with different driver mutations. Compared to KIT/PDGFRA mutant GIST, limited benefit was observed with imatinib in triple negative GIST. In depth molecular profiling can be helpful in identifying driver mutations and guiding therapy.

over 1 year ago

Genomic analysis • Stroma • Omic analysis

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • AURKA (Aurora kinase A) • NTRK (Neurotrophic receptor tyrosine kinase) • SDHC (Succinate Dehydrogenase Complex Subunit C) • SDHD (Succinate Dehydrogenase Complex Subunit D) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

BRAF V600E • PIK3CA mutation • BRAF V600 • NTRK3 fusion • PTEN deletion • PTEN mutation • NF1 mutation • ETV6-NTRK3 fusion • CHEK2 mutation • PDGFRA mutation • FGFR1 fusion • PIK3CA I391M • PDGFR wild-type

Vitrakvi (larotrectinib) • imatinib • selitrectinib (BAY 2731954)

over1year

A registry-based analysis of the projected genomic landscape among unclassified KIT/PDGFRA wildtype mutations in patients with gastrointestinal stromal tumors (ESMO 2023)

Table: 1977P Known and projected mutation distribution Conclusions By using the methods described, we were able to project the frequency of mutations in LRG registry patients and identified a higher frequency of unclassified mutations. A well-defined mutation can provide important information to optimize clinical decision-making, including diagnosis, prognosis, treatment selection, and monitoring treatment response.

over 1 year ago

Clinical • Stroma

BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ETV6 (ETS Variant Transcription Factor 6) • PTCH1 (Patched 1) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK3 fusion • KIT mutation • ETV6-NTRK3 fusion • PDGFRA mutation • KIT wild-type • PDGFR wild-type

over1year

Secretory breast cancer in a boy: A case report with genetic analysis using next-generation sequencing and literature review. (PubMed, Medicine (Baltimore))

The genomic profile of male pediatric SCB is relatively simple, no other known driver genes have been found except for the ETV6-NTRK3 fusion. Our report will improve our understanding of secretory breast cancer.

over 1 year ago

Review • Journal • Next-generation sequencing • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)

NTRK3 fusion • ETV6-NTRK3 fusion • RAD51C mutation • RAD51D mutation • NTRK3 translocation • PDGFRB mutation • RAD51 mutation

over1year

Targeted therapy using larotrectinib and venetoclax for the relapsed/refractory T-cell acute lymphoblastic leukemia harboring a cryptic ETV6-NTRK3 fusion. (PubMed, Mol Carcinog)

The leukemic clonal evolution might be revealed through transcriptome sequencing and overcome by drugs with universal targets. Our case demonstrated that both comprehensive profiling techniques (such as transcriptome sequencing, multiparameter flow cytometry, and digital droplet polymerase chain reaction) and a multimodality treatment strategy were critical for anticipating an early relapse and personalized therapy of R/R T-cell leukemia.

over 1 year ago

Journal • IO biomarker

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • EP300 (E1A binding protein p300) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK3 fusion • ETV6-NTRK3 fusion • EP300 mutation • NTRK3 positive • NTRK positive

Venclexta (venetoclax) • Vitrakvi (larotrectinib)

over1year

Elaboration of NTRK-rearranged colorectal cancer: Integration of immunoreactivity pattern, cytogenetic identity, and rearrangement variant. (PubMed, Dig Liver Dis)

Regarding break-apart FISH, NTRK detection is difficult because of the diversity of signal patterns. Further research is warranted to identify the characteristics of NTRK-fusion CRCs.

over 1 year 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) • TPM3 (Tropomyosin 3) • LMNA (Lamin A/C) • NTRK (Neurotrophic receptor tyrosine kinase)

MSI-H/dMMR • NTRK1 fusion • NTRK3 fusion • ETV6-NTRK3 fusion • TPM3-NTRK1 fusion • LMNA-NTRK1 fusion • NTRK1 positive • NTRK positive • NTRK fusion

over1year

Our experience with Larotrectinib in ETV6-NTRK3 fusion positive salivary gland cancer cases (JSMO 2023)

No abstract available

over 1 year ago

Clinical

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 positive

Vitrakvi (larotrectinib)

almost2years

Liquid biopsy-based comprehensive genomic proﬁling reveal mutational landscape in real-world patients with unresectable NSCLC (AACR 2023)

"This study revealed the comprehensive mutational landscape of advanced NSCLC through liquid biopsy, providing novel biomarkers for clinical diagnosis and targeted therapy mechanism studies."

almost 2 years ago

Real-world evidence • Clinical • Liquid biopsy

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RET (Ret Proto-Oncogene) • PTEN (Phosphatase and tensin homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NRG1 (Neuregulin 1) • KIF5B (Kinesin Family Member 5B) • CD74 (CD74 Molecule) • ETV6 (ETS Variant Transcription Factor 6) • NCOA4 (Nuclear Receptor Coactivator 4) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • RET fusion • EML4-ALK fusion • ALK fusion • KIF5B-RET fusion • ETV6-NTRK3 fusion • NRG1 fusion • NCOA4-RET fusion • CD74-NRG1 fusion • NRG1 fusion • NTRK fusion

PredicineCARE™

almost2years

GISTs with NTRK Gene Fusions: A Clinicopathological, Immunophenotypic, and Molecular Study. (PubMed, Cancers (Basel))

Compared with FISH and IHC, NGS is preferred for screening WT GISTs, including NTRK rearrangements. However, since GISTs with NTRK fusions are rare, further studies including more samples and mechanistic investigations should be conducted in the future.

almost 2 years ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK1 fusion • NTRK3 fusion • ETV6-NTRK3 fusion • PDGFRA mutation • NTRK positive • NTRK fusion

almost2years

Precision oncology using organoids of a secretory carcinoma of the salivary gland treated with TRK-inhibitors. (PubMed, Oral Oncol)

Here we describe and characterize in depth a case of ETV6-NTRK3 gene fusion-positive secretory carcinoma of the salivary glands and corresponding organoid cultures that responded and subsequently acquired resistance to TRK targeting therapy with larotrectinib. This case-culture-characterization illustrates the advances made in precision oncology, but also exposes important caveats in using organoids to predict treatment response.

almost 2 years ago

Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 positive

Vitrakvi (larotrectinib)

almost2years

Clinicopathological features and genomic profiles of a group of secretory breast carcinomas in which progressive cases have more complex genomic features. (PubMed, Diagn Pathol)

Immunohistochemical staining of a biomarker panel, including ER, PR, HER2, Ki-67, S-100 and pan-TRK, can be used as an auxiliary diagnostic tool, and FISH detection can be used as a diagnostic tool. ETV6-NTRK3 gene fusion involving multiple sites may drive tumorigenesis, while mutations in the TERT promoter region may be a factor driving tumor progression.

almost 2 years ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • TERT (Telomerase Reverse Transcriptase) • ETV6 (ETS Variant Transcription Factor 6)

HER-2 overexpression • NTRK3 fusion • ETV6-NTRK3 fusion • TERT mutation • ER expression • TERT promoter mutation • PGR expression

almost2years

Utility of Pan-TRK Immunohistochemistry in Triple Negative Breast Cancers (USCAP 2023)

While low expression with Pan-TRK is common in TNBC, intermediate to high expression is rare (<5%). Carcinomas with no special type morphology and intermediate to high Pan-TRK expression should be tested for fusion transcript for potential therapeutic value.

almost 2 years ago

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK expression • NTRK fusion

VENTANA pan-TRK (EPR17341) Assay

almost2years

BRAF-altered Spindle Cell Neoplasms: An Emerging Subset of Fibroblastic/Myofibroblastic Tumors with Histomorphologic and Genetic Heterogeneity (USCAP 2023)

BRAF-altered spindle cell neoplasms are an emerging subset of tumors within the spectrum of fibroblastic/myofibroblastic tumors that appears to show a predilection for the pediatric population. They have exhibited similar features to NTRK- rearranged spindle cell tumors, however, due to their rarity, long term follow-up is needed to better elucidate their clinical behavior.

almost 2 years ago

BRAF (B-raf proto-oncogene) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • CD34 (CD34 molecule) • NTRK (Neurotrophic receptor tyrosine kinase)

BRAF V600E • BRAF V600 • NTRK3 fusion • ETV6-NTRK3 fusion

almost2years

Nuclear Staining for Pan-Trk by Immunohistochemistry Is Highly Specific for Secretory Carcinoma: Pan-Trk in Various Subtypes of Breast Carcinoma (USCAP 2023)

Our results indicate that positive nuclear staining for pan-Trk is highly specific for secretory carcinoma. In low to intermediate grade invasive breast carcinomas that share histologic features with secretory carcinomas, the addition of pan-Trk to a routing panel of ER/PR/HER2 is highly diagnostic. Our results also support that pan-Trk can differentiate secretory carcinoma from its triple-negative histological mimics such as adenoid cystic carcinoma, matrix-producing carcinoma and apocrine carcinoma, although this finding needs to be validated in larger studies.

almost 2 years ago

HER-2 positive • ER positive • HER-2 negative • NTRK3 fusion • ETV6-NTRK3 fusion • ER positive + HER-2 negative

VENTANA pan-TRK (EPR17341) Assay

2years

Next-generation sequencing (NGS) of circulating cell-free DNA (cfDNA) in advanced pancreatic neuroendocrine neoplasms (PanNENs). (ASCO-GI 2023)

One patient who was treated with larotrectinib for an ETV6:NTRK3 fusion detected on tumor sequencing ultimately developed resistance with a NRTK3 G623R alteration identified through sequencing of cfDNA at radiographic disease progression. NGS of cfDNA in metastatic PanNENs, across the spectrum of WHO-defined tumor grade/differentiation, revealed tumor-associated genetic alterations in 66% of plasma samples. Clonal evolution, actionable alterations, and resistance mechanisms can be detected through circulating cfDNA genotyping and may serve as a powerful tool to better understand disease biology of a disease that often changes over time and through therapy.

2 years ago

BRCA Biomarker • Next-generation sequencing • Metastases

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • ETV6 (ETS Variant Transcription Factor 6) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • ARID1B (AT-Rich Interaction Domain 1B) • DAXX (Death-domain associated protein)

TP53 mutation • KRAS mutation • NTRK3 fusion • ATM mutation • ARID1A mutation • ETV6-NTRK3 fusion • TSC2 mutation • ETV6-NTRK3 G623R

MSK-IMPACT

Vitrakvi (larotrectinib)

2years

Advancement of secretory breast carcinoma: a narrative review. (PubMed, Ann Transl Med)

The development of histopathology and molecular genetics has promoted the progress of the clinical diagnosis of SBC. The purpose of this review is to serve as a guide for the better clinical treatment of SBC, particularly in the areas of disease identification and prognosis classification for patients.

2 years ago

Review • Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

HR positive • NTRK3 fusion • ETV6-NTRK3 fusion

2years

Congenital mesoblastic nephroma: review of current management and outcomes in a single centre. (PubMed, ANZ J Surg)

CMN overall has a very good prognosis, but a subgroup does exist that will have poor outcomes. It is difficult to accurately identify this group to target adjuvant therapy.

2 years ago

Review • Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6)

NTRK3 fusion • ETV6-NTRK3 fusion

2years

Clinicopathological observation of 10 cases of salivary secretory carcinoma (PubMed, Zhonghua Kou Qiang Yi Xue Za Zhi)

In certain cases, morphology is atypical and mammaglobin is immunohistochemically positive in only individual tumor cells. Therefore, the diagnosis should be supported with morphology, immunohistochemical staining, and molecular feature preferably.

2 years ago

Retrospective data • Journal

NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • SOX10 (SRY-Box 10) • VIM (Vimentin) • TP63 (Tumor protein 63) • ANO1 (Anoctamin 1)

NTRK3 fusion • ETV6-NTRK3 fusion • NTRK3 positive