1.Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing
Meng ZHANG ; Xingfeng YAO ; Nan ZHANG ; Chao JIA ; Yaqian WU ; Baofeng YANG ; Shen YANG ; Lejian HE
Chinese Journal of Pathology 2025;54(12):1288-1296
Objective:To investigate the clinicopathological and molecular genetic characteristics of pediatric tumors with DICER1 mutations.Methods:A total of 90 patients diagnosed with various types of pediatric tumors at Beijing Children′s Hospital, Capital Medical University, Beijing, China from July 2023 to September 2025 were included in this study. PCR amplification and Sanger sequencing were performed to detect the coding-region mutations of the DICER1 gene. The clinical, histopathological, and molecular genetic features of the cases with DICER1 mutation were then analyzed.Results:Among the 90 patients, 39 were male and 51 were female, with an age of onset ranging from 1 month to 17 years [median 7.13 (2.77, 10.37) years]. DICER1 mutations were detected in 37 patients (37/90, 41.1%). Among them, 9 cases harbored one mutation [6 pleuropulmonary blastomas (PPBs), 2 sex cord stromal tumors (SCSTs), and 1 cystic nephroma (CN)], 27 cases carried two mutations [10 PPBs, 3 anaplastic sarcomas of the kidney (ASKs), 3 SCSTs, 3 thyroid adenoma, 2 nodular thyroid goiters, 2 thyroid follicular lesions, 2 CN, 1 embryonal rhabdomyosarcoma, and 1 case with multiple primary tumors], and 1 case exhibited three mutations (bilateral ASKs). Despite variations in the site of origin, DICER1-mutant tumors shared several morphological features. Grossly, they presented as multilocular cystic, cystic-solid to solid masses. Microscopically, they exhibited a subepithelial layer of mesenchymal cells, with focal rhabdomyoblastic/chondroid/chondrosarcomatous differentiation, as well as cellular anaplasia. Germline testing using peripheral blood in the 31 patients with DICER1 mutation confirmed germline origin in 61.3% (19/31) of them. Parental analysis ( n=12) demonstrated genetic inheritance in 8 cases, predominantly from families with tumor history. Germline variants scattered throughout DICER1 and consisted of loss-of-function mutations (nonsense, frameshift, and splice-site). Somatic mutations showed distinct clustering in exons 24 and 25 hotspots (codons 1705, 1709, 1809, 1810 and 1813), primarily missense variants. Notably, one multiple primary tumor case harbored a somatic mosaic p.E1705K mutation. Conclusions:DICER1 mutations are frequently detected in pediatric PPB, CN, SCST, ASK, nodular thyroid goiter, thyroid adenoma, and genitourinary rhabdomyosarcoma, which often represent as the index case of DICER1 syndrome. Performing DICER1 mutation testing in these patients not only facilitates tumor diagnosis and secondary cancer surveillance, but also enables the comprehensive genetic risk assessment and management for patient′s family members.
2.Spicy food consumption and risk of vascular disease: Evidence from a large-scale Chinese prospective cohort of 0.5 million people.
Dongfang YOU ; Dianjianyi SUN ; Ziyu ZHAO ; Mingyu SONG ; Lulu PAN ; Yaqian WU ; Yingdan TANG ; Mengyi LU ; Fang SHAO ; Sipeng SHEN ; Jianling BAI ; Honggang YI ; Ruyang ZHANG ; Yongyue WEI ; Hongxia MA ; Hongyang XU ; Canqing YU ; Jun LV ; Pei PEI ; Ling YANG ; Yiping CHEN ; Zhengming CHEN ; Hongbing SHEN ; Feng CHEN ; Yang ZHAO ; Liming LI
Chinese Medical Journal 2025;138(14):1696-1704
BACKGROUND:
Spicy food consumption has been reported to be inversely associated with mortality from multiple diseases. However, the effect of spicy food intake on the incidence of vascular diseases in the Chinese population remains unclear. This study was conducted to explore this association.
METHODS:
This study was performed using the large-scale China Kadoorie Biobank (CKB) prospective cohort of 486,335 participants. The primary outcomes were vascular disease, ischemic heart disease (IHD), major coronary events (MCEs), cerebrovascular disease, stroke, and non-stroke cerebrovascular disease. A Cox proportional hazards regression model was used to assess the association between spicy food consumption and incident vascular diseases. Subgroup analysis was also performed to evaluate the heterogeneity of the association between spicy food consumption and the risk of vascular disease stratified by several basic characteristics. In addition, the joint effects of spicy food consumption and the healthy lifestyle score on the risk of vascular disease were also evaluated, and sensitivity analyses were performed to assess the reliability of the association results.
RESULTS:
During a median follow-up time of 12.1 years, a total of 136,125 patients with vascular disease, 46,689 patients with IHD, 10,097 patients with MCEs, 80,114 patients with cerebrovascular disease, 56,726 patients with stroke, and 40,098 patients with non-stroke cerebrovascular disease were identified. Participants who consumed spicy food 1-2 days/week (hazard ratio [HR] = 0.95, 95% confidence interval [95% CI] = [0.93, 0.97], P <0.001), 3-5 days/week (HR = 0.96, 95% CI = [0.94, 0.99], P = 0.003), and 6-7 days/week (HR = 0.97, 95% CI = [0.95, 0.99], P = 0.002) had a significantly lower risk of vascular disease than those who consumed spicy food less than once a week ( Ptrend <0.001), especially in those who were younger and living in rural areas. Notably, the disease-based subgroup analysis indicated that the inverse associations remained in IHD ( Ptrend = 0.011) and MCEs ( Ptrend = 0.002) risk. Intriguingly, there was an interaction effect between spicy food consumption and the healthy lifestyle score on the risk of IHD ( Pinteraction = 0.037).
CONCLUSIONS
Our findings support an inverse association between spicy food consumption and vascular disease in the Chinese population, which may provide additional dietary guidance for the prevention of vascular diseases.
Humans
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Aged
;
Vascular Diseases/etiology*
;
Risk Factors
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China/epidemiology*
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Adult
;
Proportional Hazards Models
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Cerebrovascular Disorders/epidemiology*
;
East Asian People
3.Immunotherapy and radiotherapy: An effective combination in cancer treatment.
Xuewei LI ; Chen WANG ; Haiou YANG ; Wenhui XUE ; Yaqian DING ; Na WU ; Beibei PEI ; Xiaoyan MA ; Wenhui YANG
Chinese Medical Journal 2025;138(20):2527-2539
Immunotherapy has been widely used in cancer treatment in recent years and functions by stimulating the immune system to kill tumor cells. Radiation therapy (RT) uses radiation to induce DNA damage and kill tumor cells. However, this activates the body's immune system, promoting the release of tumor-related antigens from inactive dendritic cells, which stimulates the recurrence and metastasis of tumors in immune system tissues. The combination of RT and immunotherapy has been increasingly evaluated in recent years, with studies confirming the synergistic effect of the two antitumor therapies. Particularly, the combination of RT by dose adjustment with different immunotherapies has positive implications on antitumor immunity as well as disease prognosis compared with respective monotherapies. This review summarizes the current research status, progress, and prospects of RT combined with immunotherapy in cancer treatment. It additionally discusses the prevalent concerns regarding the dose, time window, and toxicity of this combination therapy.
Humans
;
Neoplasms/radiotherapy*
;
Immunotherapy/methods*
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Combined Modality Therapy
;
Radiotherapy/methods*
4.Research progress of occult lymph node metastasis in cN0 tongue squamous cell carcinoma
Wang SUBIN ; Wu ZHENG ; Han YAQIAN ; Wang HUI
Chinese Journal of Clinical Oncology 2025;52(4):198-201
Tongue squamous cell carcinoma is the most frequent malignant tumor in the oral cavity.The incidence of occult metastasis in early-stage tongue squamous cell carcinoma ranges from 19.81%to 61.8%.The sensitivity,specificity,and accuracy of currently employed diagnostic techniques vary among different research centers.Cervical lymph nodes in tongue squamous cell carcinoma exhibit certain regu-larities,with metastasis primarily occurring in ipsilateral levels Ⅰ,Ⅱ,and Ⅲ,and occasional occurrence of skip metastasis.Occult metastasis to cervical lymph nodes in tongue squamous cell carcinoma is influenced by various factors.The treatment approach for the neck remains controversial,with options including selective neck dissection,observation,and sentinel lymph node biopsy.This review aims to elaborate on the incidence of occult lymph node metastasis in patients with tongue squamous cell carcinoma,the distribution patterns of metastatic lymph nodes,the value of various diagnostic techniques in detecting occult metastasis,risk factors for occult metastasis,and strategies for neck management.
5.Survey on knowledge, attitude, and practice regarding fever with thrombocytopenia syndrome among medical personnel in high incidence areas of Anhui Province
Xiaoyang WU ; Yaqian LIU ; Haoxiang GENG ; Axin WANG ; Yanni DAI ; Xiuzhi CHEN ; Zhicai XIA ; Hui WANG ; Deman CHENG ; Binbin HU ; Lei GONG
Chinese Journal of Endemiology 2025;44(6):489-495
Objective:To investigate the current situation of knowledge, attitude and practice of medical personnel in areas with high incidence of fever with thrombocytopenia syndrome (SFTS) in Anhui Province, in order to provide a scientific basis for conducting systematic training for medical personnel.Methods:From July to August 2024, a multi-stage random sampling method was used to select medical personnel from village, township, county, and city level medical institutions in high incidence areas of SFTS in Anhui Province (Hefei City, Liu'an City, Chuzhou City, Xuancheng City) for an online questionnaire survey on their knowledge, attitude, and practice status. The survey included demographic data, knowledge, attitude, and practice related to SFTS, and a binary logistic regression model was used to analyze the influencing factors of SFTS knowledge qualification rate.Results:A total of 2 718 valid questionnaires were collected, with an effective response rate of 99.60% (2 718/2 729). Among them, 1 384 were males, accounting for 50.92%. The majority were medical personnel aged 41 to 50 years old, with undergraduate degrees, junior professional titles, working in township health centers or community health service centers, as clinical physicians, and with a working experience of no more than 10 years. They accounted for 31.97% (869/2 718), 50.48% (1 372/2 718), 35.54% (966/2 718), 38.52% (1 047/2 718), 62.33% (1 694/2 718), and 30.61% (832/2 718), respectively. The overall correct rates of medical personnel's relevant knowledge, attitude and practice were 77.52% (31 605/40 770), 94.53% (12 847/13 590) and 89.73% (12 194/13 590), respectively. There were statistically significant differences in the knowledge qualification of medical personnel of different genders, ages, education levels, professional titles, hospital levels, job positions, and years of work experience ( P < 0.05). The results of binary logistic regression analysis showed that professional title, hospital level, work position, and work experience were the influencing factors of knowledge qualification rate ( P < 0.05). Conclusions:Medical personnel have a relatively positive attitude and high level of practice towards SFTS, but their knowledge level still needs to be improved. It is recommended to provide targeted knowledge training for medical personnel in different positions to promote early detection, diagnosis, and treatment of SFTS.
6.Survey on knowledge, attitude, and practice regarding fever with thrombocytopenia syndrome among medical personnel in high incidence areas of Anhui Province
Xiaoyang WU ; Yaqian LIU ; Haoxiang GENG ; Axin WANG ; Yanni DAI ; Xiuzhi CHEN ; Zhicai XIA ; Hui WANG ; Deman CHENG ; Binbin HU ; Lei GONG
Chinese Journal of Endemiology 2025;44(6):489-495
Objective:To investigate the current situation of knowledge, attitude and practice of medical personnel in areas with high incidence of fever with thrombocytopenia syndrome (SFTS) in Anhui Province, in order to provide a scientific basis for conducting systematic training for medical personnel.Methods:From July to August 2024, a multi-stage random sampling method was used to select medical personnel from village, township, county, and city level medical institutions in high incidence areas of SFTS in Anhui Province (Hefei City, Liu'an City, Chuzhou City, Xuancheng City) for an online questionnaire survey on their knowledge, attitude, and practice status. The survey included demographic data, knowledge, attitude, and practice related to SFTS, and a binary logistic regression model was used to analyze the influencing factors of SFTS knowledge qualification rate.Results:A total of 2 718 valid questionnaires were collected, with an effective response rate of 99.60% (2 718/2 729). Among them, 1 384 were males, accounting for 50.92%. The majority were medical personnel aged 41 to 50 years old, with undergraduate degrees, junior professional titles, working in township health centers or community health service centers, as clinical physicians, and with a working experience of no more than 10 years. They accounted for 31.97% (869/2 718), 50.48% (1 372/2 718), 35.54% (966/2 718), 38.52% (1 047/2 718), 62.33% (1 694/2 718), and 30.61% (832/2 718), respectively. The overall correct rates of medical personnel's relevant knowledge, attitude and practice were 77.52% (31 605/40 770), 94.53% (12 847/13 590) and 89.73% (12 194/13 590), respectively. There were statistically significant differences in the knowledge qualification of medical personnel of different genders, ages, education levels, professional titles, hospital levels, job positions, and years of work experience ( P < 0.05). The results of binary logistic regression analysis showed that professional title, hospital level, work position, and work experience were the influencing factors of knowledge qualification rate ( P < 0.05). Conclusions:Medical personnel have a relatively positive attitude and high level of practice towards SFTS, but their knowledge level still needs to be improved. It is recommended to provide targeted knowledge training for medical personnel in different positions to promote early detection, diagnosis, and treatment of SFTS.
7.Research progress of occult lymph node metastasis in cN0 tongue squamous cell carcinoma
Wang SUBIN ; Wu ZHENG ; Han YAQIAN ; Wang HUI
Chinese Journal of Clinical Oncology 2025;52(4):198-201
Tongue squamous cell carcinoma is the most frequent malignant tumor in the oral cavity.The incidence of occult metastasis in early-stage tongue squamous cell carcinoma ranges from 19.81%to 61.8%.The sensitivity,specificity,and accuracy of currently employed diagnostic techniques vary among different research centers.Cervical lymph nodes in tongue squamous cell carcinoma exhibit certain regu-larities,with metastasis primarily occurring in ipsilateral levels Ⅰ,Ⅱ,and Ⅲ,and occasional occurrence of skip metastasis.Occult metastasis to cervical lymph nodes in tongue squamous cell carcinoma is influenced by various factors.The treatment approach for the neck remains controversial,with options including selective neck dissection,observation,and sentinel lymph node biopsy.This review aims to elaborate on the incidence of occult lymph node metastasis in patients with tongue squamous cell carcinoma,the distribution patterns of metastatic lymph nodes,the value of various diagnostic techniques in detecting occult metastasis,risk factors for occult metastasis,and strategies for neck management.
8.Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing
Meng ZHANG ; Xingfeng YAO ; Nan ZHANG ; Chao JIA ; Yaqian WU ; Baofeng YANG ; Shen YANG ; Lejian HE
Chinese Journal of Pathology 2025;54(12):1288-1296
Objective:To investigate the clinicopathological and molecular genetic characteristics of pediatric tumors with DICER1 mutations.Methods:A total of 90 patients diagnosed with various types of pediatric tumors at Beijing Children′s Hospital, Capital Medical University, Beijing, China from July 2023 to September 2025 were included in this study. PCR amplification and Sanger sequencing were performed to detect the coding-region mutations of the DICER1 gene. The clinical, histopathological, and molecular genetic features of the cases with DICER1 mutation were then analyzed.Results:Among the 90 patients, 39 were male and 51 were female, with an age of onset ranging from 1 month to 17 years [median 7.13 (2.77, 10.37) years]. DICER1 mutations were detected in 37 patients (37/90, 41.1%). Among them, 9 cases harbored one mutation [6 pleuropulmonary blastomas (PPBs), 2 sex cord stromal tumors (SCSTs), and 1 cystic nephroma (CN)], 27 cases carried two mutations [10 PPBs, 3 anaplastic sarcomas of the kidney (ASKs), 3 SCSTs, 3 thyroid adenoma, 2 nodular thyroid goiters, 2 thyroid follicular lesions, 2 CN, 1 embryonal rhabdomyosarcoma, and 1 case with multiple primary tumors], and 1 case exhibited three mutations (bilateral ASKs). Despite variations in the site of origin, DICER1-mutant tumors shared several morphological features. Grossly, they presented as multilocular cystic, cystic-solid to solid masses. Microscopically, they exhibited a subepithelial layer of mesenchymal cells, with focal rhabdomyoblastic/chondroid/chondrosarcomatous differentiation, as well as cellular anaplasia. Germline testing using peripheral blood in the 31 patients with DICER1 mutation confirmed germline origin in 61.3% (19/31) of them. Parental analysis ( n=12) demonstrated genetic inheritance in 8 cases, predominantly from families with tumor history. Germline variants scattered throughout DICER1 and consisted of loss-of-function mutations (nonsense, frameshift, and splice-site). Somatic mutations showed distinct clustering in exons 24 and 25 hotspots (codons 1705, 1709, 1809, 1810 and 1813), primarily missense variants. Notably, one multiple primary tumor case harbored a somatic mosaic p.E1705K mutation. Conclusions:DICER1 mutations are frequently detected in pediatric PPB, CN, SCST, ASK, nodular thyroid goiter, thyroid adenoma, and genitourinary rhabdomyosarcoma, which often represent as the index case of DICER1 syndrome. Performing DICER1 mutation testing in these patients not only facilitates tumor diagnosis and secondary cancer surveillance, but also enables the comprehensive genetic risk assessment and management for patient′s family members.
9.Survival outcome and prognostic factors of 951 cases of nasopharyngeal carcinoma treated with intensity modulated radiation therapy
Xi LUO ; Qian HE ; Yiting LI ; Ziying ZHANG ; Hui WANG ; Zheng WU ; Yaqian HAN
Chinese Journal of Radiation Oncology 2024;33(10):902-908
Objective:To analyze clinical efficacy, failure mode and prognostic factors of nasopharyngeal carcinoma (NPC) patients undergoing intensity modulated radiation therapy (IMRT).Methods:Clinical data of 951 locally advanced NPC patients who were newly-treated with IMRT in Hunan Cancer Hospital from January 2018 to January 2019 were retrospectively analyzed. The patients' general data, overall survival (OS), local recurrence-free survival (LRFS), regional recurrence-free survival (RRFS), local recurrence-free survival (LRRFS), distant metastasis-free survival (DMFS), and progression-free survival (PFS) were analyzed. Comparison among different groups was performed by one-way ANOVA. Survival rate was calculated by Kaplan-Meier method. Survival difference was compared by log-rank test. Univariate and multivariate analyses were performed by Cox regression model.Results:The median follow-up time was 62.0 months (IQR, 58.0-65.0 months). The 5-year OS, LRFS, RRFS, LRRFS, DMFS, and PFS were 85.4%, 94.0%, 97.7%, 92.6%, 85.7% and 76.9%, respectively. According to the 8th edition staging of American Joint Committee on Cancer (AJCC), there were 10 cases (1.1%) of stage I, 76 cases (8.0%) of stage II, 445 cases (46.8%) of stage III, and 420 cases (44.2%) of stage IVA, respectively. Among them, the OS rates of stage I, II, III and IVA patients were 100%, 97.2%, 88.8% and 79.2%, respectively ( P<0.001); LRRFS rates were 100%, 90.4%, 94.7% and 90.4%, respectively( P=0.104); DMFS rates were 90.0%, 95.9%, 88.0% and 81.1%, respectively ( P<0.001); PFS rates were 90.0%, 89.1%, 80.9% and 70.1% respectively ( P<0.001). There were 183 cases of treatment failure, including 52 cases (5.5%) of local failure, 19 cases (2.0%) of regional failure, 130 cases (13.7%) of distant metastasis, 16 cases of local combined with regional failure (1.7%), 16 cases (1.7%) of local failure combined with distant metastasis, 13 cases (1.4%) of regional failure combined with distant metastasis, and 9 cases (0.9%) of local regional failure combined with distant metastasis, respectively. Multivariate regression analysis suggested that EB virus DNA copy number before treatment, T stage and N stage were the independent prognostic factors affecting OS, DMFS and PFS. Conclusions:Compared with two-dimensional radiotherapy, IMRT has improved the overall therapeutic effect for NPC, especially the local control rate. Distant metastasis is still the main failure mode. Clinical staging, prognostic risk stratification and prognostic biomarkers can be combined to deliver stratified and precise treatment, which may further improve clinical efficacy and reduce treatment-related side effects.
10.Characteristics and related clinical factors of myocardial 68Ga-FAPI-04 uptake in patients treated with anti-tumor therapy
Xiaofeng YU ; Yaqian ZHOU ; Qianyun WU ; Yinyan ZHU ; Lian XU ; Lianghua LI ; Cheng WANG ; Jianjun LIU ; Yumei CHEN
Chinese Journal of Nuclear Medicine and Molecular Imaging 2024;44(11):650-654
Objective:To analyze the value of 68Ga-fibroblast activation protein inhibitor (FAPI)-04 PET/CT in the detection of myocardial injury in patients treated with anti-tumor therapy. Methods:A retrospective study was conducted on 164 patients who underwent 68Ga-FAPI-04 PET/CT to evaluate the efficacy of anti-tumor therapy in Renji Hospital, School of Medicine, Shanghai Jiao Tong University between August 2021 and March 2024. The patients were divided into 68Ga-FAPI-04-positive group ( n=63, 36 males, 27 females, age (66.7±9.6) years) and 68Ga-FAPI-04-negative group ( n=101, 42 males, 59 females, age (55.2±14.1) years) based on the uptake of left ventricular myocardium (LVM). Moreover, FAPI-04 uptake was analyzed based on different types and locations, and the corresponding SUV max differences were analyzed by Kruskal-Wallis rank sum test. The differences of SUV max between 68Ga-FAPI-04-positive group and 68Ga-FAPI-04-negative group were analyzed by Mann-Whitney U test. The clinical factors such as gender, age, body mass index (BMI), previous history of coronary heart disease, left ventricular ejection fraction (LVEF), smoking history, hypertension, diabetes, cancer types and immune checkpoint inhibitors (ICIs) treatment were collected, and their predictive values for LVM 68Ga-FAPI-04 uptake were investigated by the binary logistic regression analysis. Results:Fifty patients of the 68Ga-FAPI-04-positive group (79.4%, 50/63) showed focal uptake of LVM, 7 patients (11.1%, 7/63) showed multifocal myocardial uptake, and 6 patients (9.5%, 6/63) showed diffuse myocardial uptake. A total of 127 uptake lesions were found, and most of them were located in the septum (37.8%, 48/127). The SUV max of LVM in 68Ga-FAPI-04-positive group and 68Ga-FAPI-04-negative group were 4.00(3.10, 5.40) and 1.31(1.20, 1.40) respectively ( z=-10.82, P<0.001). Differences of the SUV max among focal uptake group, multifocal myocardial uptake group, and diffuse myocardial uptake group were not significantly different (4.00(3.00, 5.10) vs 7.60(3.60, 9.30) vs 3.95(3.05, 5.05); H=3.81, P=0.149). There is no statistically significant difference either in FAPI uptake among different sites of LVM ( H=1.51, P=0.825). Age, previous history of coronary heart disease, BMI, LVEF and ICIs treatment were independent predictive factors for positive 68Ga-FAPI-04 uptake in the LVM (odds ratio ( OR) values: 0.87-10.43, all P<0.05). Conclusion:68Ga-FAPI-04 PET/CT is a potential new imaging method for the visualization of myocardial injury in patients with anti-tumor therapy.

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