As an emerging biomarker,tumor mutational burden(TMB)has attracted increasing attention from clinicians in predicting the efficacy of tumor immunotherapy.Currently,TMB is detected primarily by whole-exome sequencing o...As an emerging biomarker,tumor mutational burden(TMB)has attracted increasing attention from clinicians in predicting the efficacy of tumor immunotherapy.Currently,TMB is detected primarily by whole-exome sequencing or targeted panel sequencing on high-throughput sequencing platforms.However,the lack of uniformity in detection methods,threshold settings,and reporting formats,as well as the significant differences in TMB values among different cancer types,have hindered the standardized application of this biomarker in clinical practice.This consensus focuses on the definition,standardization of detection,clinical significance,and limitations of TMB,and provides consensus recommendations for the clinical application of TMB in real-world practice in China.This consensus is aimed at helping clinicians and laboratory personnel understand the clinical significance and testing standards of TMB,promoting more accurate interpretation of test results,and improving patient care.展开更多
The BRAF gene is an important signaling molecule in human cells that is involved in the regulation of cell growth,differentiation,and survival.When the BRAF gene mutates,it can lead to abnormal activation of the signa...The BRAF gene is an important signaling molecule in human cells that is involved in the regulation of cell growth,differentiation,and survival.When the BRAF gene mutates,it can lead to abnormal activation of the signaling pathway,which promotes cell proliferation,inhibits cell apoptosis,and ultimately contributes to the occurrence and development of cancer.BRAF mutations are widely present in various cancers,including malignant melanoma,thyroid cancer,colorectal cancer,non-small cell lung cancer,and hairy cell leukemia,among others.BRAF is an important target for the treatment of various solid tumors,and targeted combination therapies,represented by BRAF inhibitors,have become one of the main treatment modalities for a variety of BRAF-mutation-positive solid tumors.展开更多
1(NUTM1)gene rearrangements(15q14).In 1991,two independent research teams reported NC cases characterized by the t(15;19)translo-cation.1,2 In vitro studies by French et al.3 led to the pivotal discovery of NC in 2003...1(NUTM1)gene rearrangements(15q14).In 1991,two independent research teams reported NC cases characterized by the t(15;19)translo-cation.1,2 In vitro studies by French et al.3 led to the pivotal discovery of NC in 2003 as a distinct disease entity driven by the fusion of bromodo-main and extraterminal domain(BET)protein 4(BRD4)and NUTM1.In 2004,the World Health Organization(WHO)classified tumors with t(15;19)translocation as a thymic malignancy and designated it“NUT midline carcinoma,”due to its predominant occurrence in midline organs.4 However,subsequent reports revealed NC’s emergence in numerous nonmidline organs,leading to its reclassification as the independent entity“NUT carcinoma of the thorax”by the WHO in 2015.5 NC exhibits rapid progression and profound resistance to conventional radiotherapy and chemotherapy.展开更多
基金supported by grants from the National Natural Science Foundation of China(Grant No.82072577)from the International Medical Association(Grant No.IMA-F-2025-001).
文摘As an emerging biomarker,tumor mutational burden(TMB)has attracted increasing attention from clinicians in predicting the efficacy of tumor immunotherapy.Currently,TMB is detected primarily by whole-exome sequencing or targeted panel sequencing on high-throughput sequencing platforms.However,the lack of uniformity in detection methods,threshold settings,and reporting formats,as well as the significant differences in TMB values among different cancer types,have hindered the standardized application of this biomarker in clinical practice.This consensus focuses on the definition,standardization of detection,clinical significance,and limitations of TMB,and provides consensus recommendations for the clinical application of TMB in real-world practice in China.This consensus is aimed at helping clinicians and laboratory personnel understand the clinical significance and testing standards of TMB,promoting more accurate interpretation of test results,and improving patient care.
基金supported by the Natural Science Foundation of China(grant number 82002456)China Postdoctoral Science Foundation(grant number 2022M723207)+10 种基金the Medical Scientific Research Foundation of Zhejiang Province,China(grant number 2023KY666)Zhejiang Traditional Chinese Medicine Science Fund Project(grant number 2024ZL372)Qiantang Cross Fund Project(grant number 2023-16)National Natural Science Foundation of China of Zhejiang Cancer Hospital Cultivation Project(grant number PY2023006)the Medical Scientific Research Foundation of Zhejiang Province,China(grant number 2024KY812)the Natural Science Foundation of Zhejiang Province(grant number LQ24H160036)Beijing Health Technologies Promotion Program[grant number BHTPP2022041]Peking University Clinical Scientist Training Program and the Fundamental Research Funds for the Central Universities[grant number BMU2024PYJH010]Science Foundation of Peking University Cancer Hospital[grant number PY202333]the Beijing Natural Science Foundation[grant number 7232248]Beijing Hospitals Authority Youth Programme[grant number QML20231902].
文摘The BRAF gene is an important signaling molecule in human cells that is involved in the regulation of cell growth,differentiation,and survival.When the BRAF gene mutates,it can lead to abnormal activation of the signaling pathway,which promotes cell proliferation,inhibits cell apoptosis,and ultimately contributes to the occurrence and development of cancer.BRAF mutations are widely present in various cancers,including malignant melanoma,thyroid cancer,colorectal cancer,non-small cell lung cancer,and hairy cell leukemia,among others.BRAF is an important target for the treatment of various solid tumors,and targeted combination therapies,represented by BRAF inhibitors,have become one of the main treatment modalities for a variety of BRAF-mutation-positive solid tumors.
基金supported by the China Postdoctoral Science Foundation(grant number 2022M723207)the Medical Scientific Research Foundation of Zhejiang Province,China(grant number 2023KY666)+8 种基金Zhejiang Traditional Chinese Medicine Science Fund Project(grant number 2024ZL372)Qiantang Cross Fund Project(grant number 2023-16)the National Natural Science Foundation of China of Zhejiang Cancer Hospital Cultivation Project(grant number PY2023006)the Medical Scientific Research Foundation of Zhejiang Province,China(grant number 2024KY812)the Natural Science Foundation of Zhejiang Province(grant number Q24H160110)the National Natural Science Foundation of China(grant number NSFC82371851)the Science and Technology Foundation of Guizhou Province(Outstanding Young Scientists of Guizhou Province)(grant number Qiankeherencai-YQK(2023)021)the Science and Technology Foundation of Guizhou Province(grant number Qiankehejichu-ZK(2023)General 212)the Science and Technology Foundation of Guizhou Province(grant number Qiankehechengguo-LC(2025)General 068).
文摘1(NUTM1)gene rearrangements(15q14).In 1991,two independent research teams reported NC cases characterized by the t(15;19)translo-cation.1,2 In vitro studies by French et al.3 led to the pivotal discovery of NC in 2003 as a distinct disease entity driven by the fusion of bromodo-main and extraterminal domain(BET)protein 4(BRD4)and NUTM1.In 2004,the World Health Organization(WHO)classified tumors with t(15;19)translocation as a thymic malignancy and designated it“NUT midline carcinoma,”due to its predominant occurrence in midline organs.4 However,subsequent reports revealed NC’s emergence in numerous nonmidline organs,leading to its reclassification as the independent entity“NUT carcinoma of the thorax”by the WHO in 2015.5 NC exhibits rapid progression and profound resistance to conventional radiotherapy and chemotherapy.
