Elaboration of NTRK-rearranged colorectal cancer: Integration of immunoreactivity pattern, cytogenetic identity, and rearrangement variant

Wu, Shafei; Liu, Yuanyuan; Shi, Xiaohua; Zhou, Weixun; Zhang, Xuan

doi:10.1016/j.dld.2023.04.019

Cited by 9 publications

(3 citation statements)

References 29 publications

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“…The fusions detected were all ETV6-NTRK3 fusion. This fusion has been reported in colorectal cancer patients (53)(54)(55). The additional fusion was detected only in RNA data, showing the RNA could complement the DNA on the detection of fusion.…”

Section: Detection Of Etv6-ntrk3 Fusions In Colorectal Cancer Samples...supporting

confidence: 67%

Molecular characterization of colorectal adenoma and colorectal cancer via integrated genomic transcriptomic analysis

Pan,

Li,

Wang

et al. 2023

Front. Oncol.

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IntroductionColorectal adenoma can develop into colorectal cancer. Determining the risk of tumorigenesis in colorectal adenoma would be critical for avoiding the development of colorectal cancer; however, genomic features that could help predict the risk of tumorigenesis remain uncertain.MethodsIn this work, DNA and RNA parallel capture sequencing data covering 519 genes from colorectal adenoma and colorectal cancer samples were collected. The somatic mutation profiles were obtained from DNA sequencing data, and the expression profiles were obtained from RNA sequencing data.ResultsDespite some similarities between the adenoma samples and the cancer samples, different mutation frequencies, co-occurrences, and mutually exclusive patterns were detected in the mutation profiles of patients with colorectal adenoma and colorectal cancer. Differentially expressed genes were also detected between the two patient groups using RNA sequencing. Finally, two random forest classification models were built, one based on mutation profiles and one based on expression profiles. The models distinguished adenoma and cancer samples with accuracy levels of 81.48% and 100.00%, respectively, showing the potential of the 519-gene panel for monitoring adenoma patients in clinical practice.ConclusionThis study revealed molecular characteristics and correlations between colorectal adenoma and colorectal cancer, and it demonstrated that the 519-gene panel may be used for early monitoring of the progression of colorectal adenoma to cancer.

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Section: Detection Of Etv6-ntrk3 Fusions In Colorectal Cancer Samples...supporting

confidence: 67%

Molecular characterization of colorectal adenoma and colorectal cancer via integrated genomic transcriptomic analysis

Pan,

Li,

Wang

et al. 2023

Front. Oncol.

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“…NTRK1 rearrangement has not been reported in cellular CMN in the literature, indicating that this might be a newly discovered molecular subtype of CMN with NTRK1 rearrangement. The TPM3::NTRK1 fusion gene has been frequently reported in adult cancers ( 25 - 30 ), where it is associated with a poor prognosis ( 30 ). Our literature review located few reports of pediatric tumors with TPM3::NTRK1 fusion gene and no reports on CMNs with TPM3::NTRK1 fusion gene ( 21 - 23 ).…”

Section: International Multidisciplinary Team (Imdt) Discussionmentioning

confidence: 99%

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

Sun,

Chen,

Xue

et al. 2024

Transl Pediatr

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“…The rate of NTRK gene rearrangement in CRC ranges from 0.2% to 2.4%, and involves primarily TPM3-NTRK1, EML4-NTRK1, and LMNA-NTRK1 72 . The rearrangement of TPM3-NTRK1 was first discovered in colon cancer 30 years ago but has not received widespread attention.…”

Section: Fusion Genes Produced By Kinase Rearrangementmentioning

confidence: 99%

Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants

Chen,

Gu,

et al. 2024

Cancer Biol Med

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Targeted therapy is crucial for advanced colorectal cancer (CRC) positive for genetic drivers. With advances in deep sequencing technology and new targeted drugs, existing standard molecular pathological detection systems and therapeutic strategies can no longer meet the requirements for careful management of patients with advanced CRC. Thus, rare genetic variations require diagnosis and targeted therapy in clinical practice. Rare gene mutations, amplifications, and rearrangements are usually associated with poor prognosis and poor response to conventional therapy. This review summarizes the clinical diagnosis and treatment of rare genetic variations, in genes including erb-b2 receptor tyrosine kinase 2 (ERBB2), B-Raf proto-oncogene, serine/threonine kinase (BRAF), ALK receptor tyrosine kinase/ROS proto-oncogene 1, receptor tyrosine kinase (ALK/ROS1), neurotrophic receptor tyrosine kinases (NTRKs), ret proto-oncogene (RET), fibroblast growth factor receptor 2 (FGFR2), and epidermal growth factor receptor (EGFR), to enhance understanding and identify more accurate personalized treatments for patients with rare genetic variations.

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Elaboration of NTRK-rearranged colorectal cancer: Integration of immunoreactivity pattern, cytogenetic identity, and rearrangement variant

Cited by 9 publications

References 29 publications

Molecular characterization of colorectal adenoma and colorectal cancer via integrated genomic transcriptomic analysis

Molecular characterization of colorectal adenoma and colorectal cancer via integrated genomic transcriptomic analysis

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants

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