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[NTRK gene fusion and molecular pathological characteristics of mismatch repair deficient colorectal cancer].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, People's Hospital of Zhengzhou University/People's Hospital of Henan University, Zhengzhou 450043, China.
To investigate the expression pattern of pan-TRK protein in colorectal cancers with NTRK gene fusion and mismatch repair deficient (dMMR) and to analyze its molecular pathological characteristics. A total of 117 dMMR colorectal cancers diagnosed in the Department of Pathology of Henan Provincial People's Hospital, Zhengzhou, China from 2020 to 2023 were collected. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and DNA/RNA-based next-generation sequencing (NGS) were used to detect pan-TRK protein expression and fusion partner genes in tumors, and to further explore the correlation between pan-TRK staining patterns and partner genes.
View Article and Find Full Text PDFActionable Gene Alterations Identified in Patients With Malignant Melanoma by Targeted Sequencing in Japan.
JCO Precis Oncol
January 2025
Department of Medical Oncology, Hokkaido University Hospital, Sapporo, Hokkaido, Japan.
Purpose: Precision medicine plays an important role in the treatment of patients with advanced melanoma. Despite its high incidence in White patients, advanced melanoma is rare in Asian countries, hampering prospective clinical trials targeting the Asian population. This retrospective study aimed to elucidate the real-world molecular diagnoses and outcomes of Japanese patients with melanoma using comprehensive genome profiling (CGP).
View Article and Find Full Text PDFReal-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.
Mol Diagn Ther
December 2024
Comprehensive Cancer Center, University of Maastricht, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands.
Introduction: Anorectal melanoma is a rare neoplasm with an aggressive behavior and poor prognosis. Recently, recurrent gene mutations related to anorectal melanoma have been identified in a small series of cases, and this holds promise for targeted therapies, analogous to cutaneous melanoma. The purpose of this study was to analyze testing rates and prevalence of mutations in anorectal melanoma in the Dutch population.
View Article and Find Full Text PDFA practice-oriented genome-profiling study for acute myeloid leukemia using the novel HANDLE system: HM-screen-JAPAN02.
Int J Hematol
December 2024
Department of Hematology, National Cancer Center Hospital East, Kashiwa, 277-8577, Japan.
HM-SCREEN-Japan is a multicenter collaborative project in Japan to evaluate the clinical utility of a cancer genome panel in the treatment of acute myeloid leukemia (AML). The HM-SCREEN-JAPAN02 study used the Amoy Myeloid Panel with the HANDLE system, which enables efficient and rapid sequencing, as the genomic testing kit. The Amoy Myeloid Panel targets 53 genes with established clinical significance or high prevalence.
View Article and Find Full Text PDFGenomic differences of patients with hematologic malignancies in different age groups.
Commun Biol
December 2024
Department of Hematology, Peking University First Hospital, Beijing, China.
Article Synopsis
- Hematologic malignancies significantly impact the health of children, young adults, and older adults, yet their biological causes are not well understood.
- A study revealed notable differences in clinical features and genomic mutations between children/young adults (CYAs) and older adults (OAs) in these diseases, including lower mutational burdens in CYAs for many key genes.
- The research identified specific genes with varying mutation rates and emphasized the need for age-oriented personalized treatment options based on the distinct genetic and clinical landscapes of CYAs and OAs.
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