1.Expression and significance of m6A reader IGF2BP2 in pancreatic cancer
Weidong ZHU ; Wei XIANG ; An YAN ; Zhengrong OU ; Hongwei ZHU ; Xiao YU
Chinese Journal of General Surgery 2025;34(3):485-494
Background and Aims:N6-methyladenosine(m6A)epigenetic modification plays a crucial role in post-transcriptional gene expression regulation and various physiological and pathological processes,including tumorigenesis.The m6A reader IGF2BP2 significantly enhances mRNA stability and translation efficiency and is abnormally expressed in multiple cancers.However,the specific biological function of IGF2BP2 in pancreatic cancer remains unclear.Therefore,this study investigated the expression of the m6A reader IGF2BP2 in pancreatic cancer and its effects on pancreatic cancer cell functions.Methods:The expression levels of m6A-related writers,erasers,and readers were analyzed using The Cancer Genome Atlas(TCGA),the Genotype-Tissue Expression(GTEX)database,and the Gene Expression Omnibus(GEO).Kaplan-Meier survival analysis was conducted to assess the relationship between IGF2BP2 expression and the prognosis of pancreatic cancer patients.Immunohistochemistry was used to validate IGF2BP2 expression in clinical specimens of pancreatic cancer tissues and adjacent normal tissues.Functional experiments,including CCK-8 assay,flow cytometry for cell cycle analysis,colony formation assay,and Transwell migration assay,were performed to evaluate changes in cell proliferation,cell cycle distribution,colony formation ability,and migration capacity after IGF2BP2 knockdown in pancreatic cancer cells.Results:TCGA-GTEX and GEO database analyses showed that IGF2BP2 was highly expressed in pancreatic cancer tissues(both P<0.05)and that its high expression was associated with poor overall survival(both P<0.05).Immunohistochemical staining of clinical specimens confirmed that IGF2BP2 protein expression was higher in pancreatic cancer than in adjacent normal tissue.Functional experiments demonstrated that IGF2BP2 knockdown significantly reduced the proliferation ability of pancreatic cancer cells,arrested more cells in the G0-G1 phase,decreased colony formation,and impaired cell migration(all P<0.05).Conclusion:The m6A reader IGF2BP2 is highly expressed in pancreatic cancer tissues and is closely associated with poor prognosis in patients with this disease.Its mechanism of action may be related to the promotion of cancer cell growth and migration.
2.Expression and significance of m6A reader IGF2BP2 in pancreatic cancer
Weidong ZHU ; Wei XIANG ; An YAN ; Zhengrong OU ; Hongwei ZHU ; Xiao YU
Chinese Journal of General Surgery 2025;34(3):485-494
Background and Aims:N6-methyladenosine(m6A)epigenetic modification plays a crucial role in post-transcriptional gene expression regulation and various physiological and pathological processes,including tumorigenesis.The m6A reader IGF2BP2 significantly enhances mRNA stability and translation efficiency and is abnormally expressed in multiple cancers.However,the specific biological function of IGF2BP2 in pancreatic cancer remains unclear.Therefore,this study investigated the expression of the m6A reader IGF2BP2 in pancreatic cancer and its effects on pancreatic cancer cell functions.Methods:The expression levels of m6A-related writers,erasers,and readers were analyzed using The Cancer Genome Atlas(TCGA),the Genotype-Tissue Expression(GTEX)database,and the Gene Expression Omnibus(GEO).Kaplan-Meier survival analysis was conducted to assess the relationship between IGF2BP2 expression and the prognosis of pancreatic cancer patients.Immunohistochemistry was used to validate IGF2BP2 expression in clinical specimens of pancreatic cancer tissues and adjacent normal tissues.Functional experiments,including CCK-8 assay,flow cytometry for cell cycle analysis,colony formation assay,and Transwell migration assay,were performed to evaluate changes in cell proliferation,cell cycle distribution,colony formation ability,and migration capacity after IGF2BP2 knockdown in pancreatic cancer cells.Results:TCGA-GTEX and GEO database analyses showed that IGF2BP2 was highly expressed in pancreatic cancer tissues(both P<0.05)and that its high expression was associated with poor overall survival(both P<0.05).Immunohistochemical staining of clinical specimens confirmed that IGF2BP2 protein expression was higher in pancreatic cancer than in adjacent normal tissue.Functional experiments demonstrated that IGF2BP2 knockdown significantly reduced the proliferation ability of pancreatic cancer cells,arrested more cells in the G0-G1 phase,decreased colony formation,and impaired cell migration(all P<0.05).Conclusion:The m6A reader IGF2BP2 is highly expressed in pancreatic cancer tissues and is closely associated with poor prognosis in patients with this disease.Its mechanism of action may be related to the promotion of cancer cell growth and migration.
3.Clinical application effects of free transplantation of lobulated inguinal flaps
Wei ZHANG ; Weidong ZHANG ; Junhui XU ; Lan CHEN ; Xiang GONG ; Feng LIU ; Jinxiu ZHOU ; Fei YANG ; Weiguo XIE
Chinese Journal of Burns 2025;41(1):36-44
Objective:To investigate the clinical application effects of free transplantation of lobulated inguinal flaps.Methods:This study was a retrospective observational study. From July 2019 to April 2024, 34 patients with skin defect wounds whose wounds in one part met the inclusion criteria were admitted to Tongren Hospital of Wuhan University & Wuhan Third Hospital, including 28 males and 6 females, aged 26 to 59 years. The wound area in the recipient area ranged from 3.0 cm×2.0 cm to 25.0 cm×20.0 cm. The lobulated inguinal flap pedicled with the branch of the superficial circumflex iliac artery were obtained in 19 patients, and the lobulated inguinal flap pedicled with the main artery of the superficial circumflex iliac artery and the superficial inferior epigastric artery were obtained in 15 patients. The total area of the flaps ranged from 6.0 cm×2.2 cm to 27.0 cm×23.0 cm. The flaps were divided into 2 to 4 lobes, and the area of each lobe ranged from 2.0 cm×1.0 cm to 17.0 cm×12.0 cm. Each lobe of the flaps was reassembled, spliced, or directly transplanted onto the wounds, and the donor wounds were sutured in layers. The survival of each lobe of the flaps and wound healing in the recipient and donor areas were observed, and the wound recovery in the recipient and donor areas were followed up. At the last follow-up, the patient's satisfaction with the efficacy was assessed by 5-grade Likert scale.Results:A small amount of necrosis appeared in the tip of one lobe of the flaps in 4 patients after surgery, which healed after trimming. The flaps of the remaining 30 patients survived. The wounds in the recipient areas healed smoothly. There was a small amount of necrosis at the suture edge of the donor areas in 3 patients, which healed after local trimming and dressing change. The donor wounds healed well in the remaining 31 patients. During the follow-up of 6 to 42 months, all the recipient wounds were well repaired, and the shape of the donor areas was good. At the last follow-up, 15 patients were very satisfied with the efficacy, 15 were relatively satisfied, and 4 were generally satisfied.Conclusions:Through preoperative ultrasonic examination and positioning, the inguinal flap is designed according to the course of blood vessels and lobulated with the branch of the superficial circumflex iliac artery or the main artery of the superficial circumflex iliac artery and the superficial inferior epigastric artery as the pedicles. The anatomical process is reliable and the blood flow of the flap after being lobulated is rich, which can meet the repair needs of various skin defect wounds. The repair effect is good, and the damage in the donor area is small, which is worthy of promotion.
4.Efficacy of free medial sural artery perforator flap transplantation in repairing electrical burn wounds on hands and feet
Weidong ZHANG ; Wei ZHANG ; Gang YU ; Lan CHEN ; Xiang GONG ; Weiguo XIE ; Tianfeng RU
Chinese Journal of Burns 2025;41(4):386-393
Objective:To explore the efficacy of free medial sural artery perforator flap transplantation in repairing electrical burn wounds on hands and feet.Methods:This study was a retrospective observational study. From November 2017 to September 2023, 21 male patients aged 28-51 years with electrical burns on hands and feet who met the inclusion criteria were admitted to Tongren Hospital of Wuhan University & Wuhan Third Hospital. There were 23 wounds, of which 14 were on the hand and 9 on the foot; 9 were associated with exposed tendon injury, 6 were associated with bone exposure or necrosis, and 8 were associated with joint injury. The wound area after debridement was 4.0 cm×2.5 cm-14.0 cm×10.0 cm. For 2 relatively wide wounds and 2 adjacent fingers/toes wounds, the lobulated flaps centered on 2 medial sural artery perforators were designed and incised for repair. For other wounds, medial sural artery perforator flaps were designed and incised. The flap area was 5.0 cm×3.0 cm-16.0 cm×11.0 cm. The arteriovenous vessels of flap were anastomosed end-to-end with the arteriovenous vessels of the recipient area; the cutaneous nerves of 10 flaps were anastomosed with the nerves in hand wound, and the sural nerve bundle was cut to repair one digital nerve defect. The donor site wound was closed with tension-relieving sutures. Postoperative flap survival and wound healing at donor site were recorded. During follow-up, subsequent flap revision was recorded, the texture and appearance of the flap, as well as the scarring and functional recovery of the donor area of the lower leg, were observed. At the last follow-up, the recovery of hand flap sensation was observed, the satisfaction of patients with the treatment effect of each operation was investigated by using Likert scale, the hand function of the affected hand in patients with hand wounds was evaluated by using the trial standards for evaluation of partial function of upper extremity by the Hand Surgery Society of Chinese Medical Association, and the weight-bearing walking ability of the affected foot in patients with foot wounds was evaluated by Holden walking ability grading.Results:There was a slight necrosis at the distal end of one flap after surgery, which healed after dressing change. All 23 flaps survived. The sutures of the two donor areas were poorly healed due to high local tension, and the second sutures were performed after debridement and drainage, and the healing was good. The wounds of the remaining 21 donor sites healed well. Follow-up of 6-26 months after surgery showed that 3 flaps were slightly bloated, and the appearance was improved after flap reconstruction; the other flaps did not undergo subsequent revision. All flaps were soft and similar to the surrounding tissue morphology. Linear scar remained in the donor site of the lower leg, and walking function was normal. At the last follow-up, the protective sensation of the hand flap was restored; the patients were very satisfied with the results of 21 surgeries and were relatively satisfied with the results of 2 surgeries. Among the 14 patients with hand wounds, the affected hand function was rated as excellent in 10 cases, very good in 3 cases, and acceptable in one case, and the weight-bearing walking ability of the affected foot in 7 patients with foot wounds was all rated as grade Ⅴ.Conclusions:The medial sural artery perforator flap has the advantages of reliable blood supply, appropriate thickness and smoothness, and can be lobulated or cut according to the shape of the wound. The flap demonstrates superior aesthetic and functional restoration in repairing electrical burn wounds on hands and feet, achieving high patient satisfaction with the surgical treatment effect.
5.Clinical application effects of free transplantation of lobulated inguinal flaps
Wei ZHANG ; Weidong ZHANG ; Junhui XU ; Lan CHEN ; Xiang GONG ; Feng LIU ; Jinxiu ZHOU ; Fei YANG ; Weiguo XIE
Chinese Journal of Burns 2025;41(1):36-44
Objective:To investigate the clinical application effects of free transplantation of lobulated inguinal flaps.Methods:This study was a retrospective observational study. From July 2019 to April 2024, 34 patients with skin defect wounds whose wounds in one part met the inclusion criteria were admitted to Tongren Hospital of Wuhan University & Wuhan Third Hospital, including 28 males and 6 females, aged 26 to 59 years. The wound area in the recipient area ranged from 3.0 cm×2.0 cm to 25.0 cm×20.0 cm. The lobulated inguinal flap pedicled with the branch of the superficial circumflex iliac artery were obtained in 19 patients, and the lobulated inguinal flap pedicled with the main artery of the superficial circumflex iliac artery and the superficial inferior epigastric artery were obtained in 15 patients. The total area of the flaps ranged from 6.0 cm×2.2 cm to 27.0 cm×23.0 cm. The flaps were divided into 2 to 4 lobes, and the area of each lobe ranged from 2.0 cm×1.0 cm to 17.0 cm×12.0 cm. Each lobe of the flaps was reassembled, spliced, or directly transplanted onto the wounds, and the donor wounds were sutured in layers. The survival of each lobe of the flaps and wound healing in the recipient and donor areas were observed, and the wound recovery in the recipient and donor areas were followed up. At the last follow-up, the patient's satisfaction with the efficacy was assessed by 5-grade Likert scale.Results:A small amount of necrosis appeared in the tip of one lobe of the flaps in 4 patients after surgery, which healed after trimming. The flaps of the remaining 30 patients survived. The wounds in the recipient areas healed smoothly. There was a small amount of necrosis at the suture edge of the donor areas in 3 patients, which healed after local trimming and dressing change. The donor wounds healed well in the remaining 31 patients. During the follow-up of 6 to 42 months, all the recipient wounds were well repaired, and the shape of the donor areas was good. At the last follow-up, 15 patients were very satisfied with the efficacy, 15 were relatively satisfied, and 4 were generally satisfied.Conclusions:Through preoperative ultrasonic examination and positioning, the inguinal flap is designed according to the course of blood vessels and lobulated with the branch of the superficial circumflex iliac artery or the main artery of the superficial circumflex iliac artery and the superficial inferior epigastric artery as the pedicles. The anatomical process is reliable and the blood flow of the flap after being lobulated is rich, which can meet the repair needs of various skin defect wounds. The repair effect is good, and the damage in the donor area is small, which is worthy of promotion.
6.Efficacy of free medial sural artery perforator flap transplantation in repairing electrical burn wounds on hands and feet
Weidong ZHANG ; Wei ZHANG ; Gang YU ; Lan CHEN ; Xiang GONG ; Weiguo XIE ; Tianfeng RU
Chinese Journal of Burns 2025;41(4):386-393
Objective:To explore the efficacy of free medial sural artery perforator flap transplantation in repairing electrical burn wounds on hands and feet.Methods:This study was a retrospective observational study. From November 2017 to September 2023, 21 male patients aged 28-51 years with electrical burns on hands and feet who met the inclusion criteria were admitted to Tongren Hospital of Wuhan University & Wuhan Third Hospital. There were 23 wounds, of which 14 were on the hand and 9 on the foot; 9 were associated with exposed tendon injury, 6 were associated with bone exposure or necrosis, and 8 were associated with joint injury. The wound area after debridement was 4.0 cm×2.5 cm-14.0 cm×10.0 cm. For 2 relatively wide wounds and 2 adjacent fingers/toes wounds, the lobulated flaps centered on 2 medial sural artery perforators were designed and incised for repair. For other wounds, medial sural artery perforator flaps were designed and incised. The flap area was 5.0 cm×3.0 cm-16.0 cm×11.0 cm. The arteriovenous vessels of flap were anastomosed end-to-end with the arteriovenous vessels of the recipient area; the cutaneous nerves of 10 flaps were anastomosed with the nerves in hand wound, and the sural nerve bundle was cut to repair one digital nerve defect. The donor site wound was closed with tension-relieving sutures. Postoperative flap survival and wound healing at donor site were recorded. During follow-up, subsequent flap revision was recorded, the texture and appearance of the flap, as well as the scarring and functional recovery of the donor area of the lower leg, were observed. At the last follow-up, the recovery of hand flap sensation was observed, the satisfaction of patients with the treatment effect of each operation was investigated by using Likert scale, the hand function of the affected hand in patients with hand wounds was evaluated by using the trial standards for evaluation of partial function of upper extremity by the Hand Surgery Society of Chinese Medical Association, and the weight-bearing walking ability of the affected foot in patients with foot wounds was evaluated by Holden walking ability grading.Results:There was a slight necrosis at the distal end of one flap after surgery, which healed after dressing change. All 23 flaps survived. The sutures of the two donor areas were poorly healed due to high local tension, and the second sutures were performed after debridement and drainage, and the healing was good. The wounds of the remaining 21 donor sites healed well. Follow-up of 6-26 months after surgery showed that 3 flaps were slightly bloated, and the appearance was improved after flap reconstruction; the other flaps did not undergo subsequent revision. All flaps were soft and similar to the surrounding tissue morphology. Linear scar remained in the donor site of the lower leg, and walking function was normal. At the last follow-up, the protective sensation of the hand flap was restored; the patients were very satisfied with the results of 21 surgeries and were relatively satisfied with the results of 2 surgeries. Among the 14 patients with hand wounds, the affected hand function was rated as excellent in 10 cases, very good in 3 cases, and acceptable in one case, and the weight-bearing walking ability of the affected foot in 7 patients with foot wounds was all rated as grade Ⅴ.Conclusions:The medial sural artery perforator flap has the advantages of reliable blood supply, appropriate thickness and smoothness, and can be lobulated or cut according to the shape of the wound. The flap demonstrates superior aesthetic and functional restoration in repairing electrical burn wounds on hands and feet, achieving high patient satisfaction with the surgical treatment effect.
7.Lateral approach single-incision laparoscopic totally extraperitoneal inguinal hernia repair:a report of 110 cases
Yizhong ZHANG ; Rui TANG ; Tingfeng WANG ; Xianke SI ; Lebin YE ; Nan LIU ; Shijun XIANG ; Weidong WU
Journal of Surgery Concepts & Practice 2024;29(4):323-328
Objective To present the initial practice of a novel procedure for the surgical treatment of inguinal hernia-"lateral approach single-incision laparoscopic totally extraperitoneal(L-SILTEP)repair"in certain specific situations.Methods The clinical data of 110 inguinal hernia patients who underwent L-SILTEP in the First Affiliated Hospital of Ningbo University,Shanghai General Hospital affiliated to Shanghai Jiao Tong University School of Medicine,and Shanghai East Hospital affiliated to Tongji University from June 2021 to March 2024 were collected retrospectively.Patients' demographics,surgical details,length of hospital stay,and postoperative outcomes were analyzed respectively.Results All surgeries were completed successfully and there was no conversion.The median surgical time was 55(41.25,70)mins and the intraoperative blood loss was 5(2,10)mL.In surgery,inferior epigastric artery injury occurred in 5 cases(4.5%)and spermatic cord injury occurred in 1 case(0.9%).The mean visual analog scale(VAS)scores pain assessment at 6,24,and 48 h after surgery were 3.0±0.8,1.9±0.7 and 1.1±0.4,respectively.The duration of hospital stay was(3.3±0.7)days.The most common postoperative complication was seroma,which occurred in 9 cases(8.2%).Additionally,extraperitoneal hematoma occurred in 1 case(0.9%)and scrotum effusion in 1 case(0.9%).Conclusions Generally,L-SILTEP is safe,feasible and effective.However,due to its advanced technique-demand,the application of L-SILTEP should be patient-specific and surgeon-specific.The successful implementation of this surgical procedure necessitates extensive training and meticulous attention to the surgical details.
8.Analysis of family mutation type and two-hit hypothesis of a familial VHL Syndrome patient
Jun PAN ; Yuxin CHEN ; Yanwen LU ; Xiang DONG ; Haiyang YANG ; Gutian ZHANG ; Weidong GAN ; Hongqian GUO
Journal of Modern Urology 2023;28(9):799-804
【Objective】 To explore the mutation type, clinical characteristics, molecular genetics and the two-hit type of a patient with familial Von Hippel Lindau (VHL) syndrome. 【Methods】 The data of the patient were collected. DNA was extracted from the peripheral blood and renal cell carcinoma sample. The VHL gene germline mutation site was detected with high throughput sequencing next generation sequencing (NGS). The two-hit site was identified with UCSCXena database, methylation-specific PCR (MSP) and microsatellite stability detection. 【Results】 The mutation site of the embryo line was located in c.500G>A R167Q mutation. The patient had single nucleotide polymorphism, but no clear loss of heterozygosity, methylation or system mutation. 【Conclusion】 The germline mutation in exon 3 is the basis for the clinical features of this familial renal cell carcinoma proband. The identification of the two-hit site is key to the occurrence of the disease, which is significant for the diagnosis and treatment. The use of the databases can guide the screening of mutations and methylation sites in familial renal cell carcinoma.
9.Uptake characteristics of 68Ga-FAPI-04 and 18F-FDG in surgical wounds after radical surgery for gastrointestinal adenocarcinoma
Yirong WANG ; Xiang LI ; Zhiyong QUAN ; Weidong YANG ; Fei KANG ; Mingru ZHANG ; Jiajun YE ; Guiyu LI ; Jing WANG
Chinese Journal of Nuclear Medicine and Molecular Imaging 2023;43(6):349-354
Objective:To explore the uptake characteristics and temporal changes of 68Ga-fibroblast activation protein inhibitors (FAPIs) and 18F-FDG in the anastomotic site of reconstructed digestive tracts after radical surgery for gastrointestinal adenocarcinoma. Methods:A cohort of 43 patients (28 males, 15 females; age range 28-79 years) who underwent radical surgery for gastrointestinal adenocarcinoma and underwent 18F-FDG PET/CT follow-up between November 2020 and June 2022 in the First Affiliated Hospital of the Air Force Medical University was prospectively included. One week after the 18F-FDG PET/CT examination, 68Ga-FAPI-04 PET/CT imaging was performed. ROIs were drawn on the PET images at the highest uptake level of anastomotic sites of reconstructed digestive tract and abdominal wall incisions, and SUV max and target-to-background ratio (TBR) were determined. χ2 test, one-way analysis of variance, Kruskal-Wallis rank sum test (Bonferroni correction) and Wilcoxon signed-rank test were supplied. Results:There were 86 surgical wounds (13 gastric-intestinal anastomotic sites, 14 esophagus-intestinal anastomotic sites, 16 intestinal-intestinal anastomotic sites, and 43 abdominal wall incisions) included. In 68Ga-FAPI-04 PET imaging, SUV max of gastric-intestinal anastomotic sites was higher than that of abdominal wall incisions, with a statistically significant difference (adjusted P=0.014). The TBR did not show statistically significant differences among different types of surgical wounds ( H=3.88, P=0.275). In 18F-FDG PET imaging, SUV max of gastric-intestinal, esophagus-intestinal, and intestinal-intestinal anastomotic sites were all higher than that of abdominal wall incisions, with statistically significant differences (adjusted all P<0.001). There were no statistically significant differences in TBR among different types of surgical wounds ( H=3.02, P=0.388). In 68Ga-FAPI-04 PET imaging, the TBR of all types of anastomotic sites exhibited a decreasing trend with increasing postoperative time. Except for intestinal-intestinal anastomotic sites, the differences in TBR between < 0.5-year and ≥ 1.5-year groups were statistically significant for other types of surgical wounds (adjusted P<0.05). In 18F-FDG PET imaging, the TBR of abdominal wall incisions showed a decreasing trend with increasing postoperative time. However, the TBR of other types of surgical wounds did not show a decreasing trend, and the differences in TBR among different time groups were not statistically significant ( H values: 0.53-2.75, P values: 0.252-0.768). In comparing the two PET imaging agents, for all surgical wounds within the <0.5-year and 0.5-1.5-year groups, the 68Ga-FAPI-04 TBR was consistently higher than the 18F-FDG TBR ( z values: -3.17 and -2.55, P values: 0.002 and 0.011). However, in the ≥1.5-year group, the TBR values tended to be consistent, and the differences were not statistically significant ( z=-0.70, P=0.485). Conclusions:The 18F-FDG uptake in the anastomotic sites of reconstructed digestive tracts reaches a low level under half a year after surgery and does not significantly change over time, while the 68Ga-FAPIs uptake remains relatively high within the first 1.5 years after surgery but decreases over time. These patterns suggest that clinical attention should be paid to the differential diagnosis of anastomotic inflammation or fibrosis, which resulting in agent uptake and local tumor recurrence.
10.Clinical features of TFE3-rearranged renal cell carcinoma
Shuoming ZHOU ; Wenliang MA ; Xiang DONG ; Guangxiang LIU ; Changwei JI ; Gutian ZHANG ; Weidong GAN ; Hongqian GUO
Chinese Journal of Urology 2023;44(6):427-433
Objective:A single-center analysis was performed to assess the significant clinical features and prognostic factors of TFE3-rearranged renal cell carcinoma (TFE3 rRCC).Methods:The clinical data of 85 confirmed cases of TFE3 rRCC patients at the Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University from January 2007 to February 2023 were analyzed retrospectively. Among these patients, there were 39 males and 46 females, with a median age of 32 (26, 45) years. All patients underwent preoperative CT scans, 21/85 cases (24.7%) of TFE3 rRCC exhibited the characteristic feature of "circular calcification" with plain CT imaging, and enhanced CT scan showed that the tumor enhancement during the arterial phase was lower than the adjacent renal cortex. Among the 85 patients in this cohort, the median tumor diameter was 4.8(3.2, 6.5). Thirty-two patients underwent partial nephrectomy (NSS), while 51 patients underwent radical nephrectomy (RN). Two patients with distant metastasis at the time of diagnosis received only sunitinib therapy. Forty-three patients received adjuvant treatment, including 14 patients who received targeted therapy. There were 29 patients in AJCC stage Ⅲ/Ⅳ, with 10 patients presenting with venous tumor thrombus and 14 patients with lymph node metastasis. Histopathology, TFE3 immunohistochemistry, and break-apart TFE3 FISH probe detection were performed on all 85 cases, while 52 patients underwent RT-PCR and/or DNA sequencing. By combining the clinical and pathological data, we summarized the diagnostic Methods for TFE3 rRCC, evaluated the impact of surgical approaches (RN and NSS) on the survival outcomes of cT 1a/b patients, and assessed the influence of genetic subtypes (ASPL, NONO, PRCC, SFPQ, and others) on the survival outcomes of all patients. Furthermore, we analyzed the risk factors for disease progression. Results:TFE3 rRCC exhibited variable histopathological features, and the presence of acinar-like structures with psammoma bodies may be a relatively typical characteristic. All 85 patients showed positive TFE3 immunohistochemical staining. In 6 cases of TFE3 rRCC, break-apart TFE3 FISH probe yielded negative results. However, final confirmation was achieved through genetic sequence, with 5 cases diagnosed as NONO-TFE3 subtype and 1 case as RBM10-TFE3 subtype. Among the 85 patients, 52 underwent RT-PCR and/or DNA sequencing, revealing a total of 8 TFE3 fusion subtypes, including 11 cases of ASPL-TFE3, 8 cases of PRCC-TFE3, 10 cases of NONO-TFE3, 15 cases of SFPQ-TFE3, 1 case of CLTC-TFE3, 2 cases of LUC7L3-TFE3, 4 cases of MED15-TFE3, and 1 case of RBM10-TFE3. The survival analysis results revealed that among the 12 patients with cT 1b stage tumors who underwent radical nephrectomy (RN), the progression-free survival (PFS) was 35 (14, 109) months, which was significantly better than the NSS group ( P=0.041). However, for the 14 patients with cT 1a stage tumors who underwent RN, there was no statistically significant difference in overall survival (OS) and PFS compared to the NSS group, with OS being 55(27, 134) months and PFS being 71(41, 134) months. Stratifying according to TFE3 fusion subtypes, it was found that patients with ASPL-TFE3 fusion had a significantly lower PFS compared to those with non-ASPL-TFE3 fusion subtypes ( P=0.029). Survival analysis revealed that tumor diameter, surgical approach, adjuvant therapy, AJCC staging, venous tumor thrombus, and lymph node metastasis were associated with OS and PFS( P<0.05). The results of the multivariate Cox regression analysis showed that AJCC stage Ⅲ/Ⅳ( HR=2.393, 95% CI 1.418-4.039, P=0.001) and venous tumor thrombus ( HR=3.543, 95% CI 1.159-10.827, P=0.026) were independent risk factors for progression-free survival (PFS). Conclusions:During the non-enhanced phase of CT scan, TFE3 rRCC tumors can exhibit a circular calcification. TFE3 immunohistochemistry is an important screening method for TFE3 rRCC.Break-apart TFE3 FISH probe detection is considered the diagnostic gold standard, and gene sequencing, if feasible, can provide the subtype diagnosis of TFE3 rRCC. For cT 1a stage TFE3 rRCC, partial nephrectomy (NSS) is a viable option, while caution should be taken in selecting NSS for cT1b stage patients. Patients with ASPL-TFE3 fusion subtype have a worse prognosis. AJCC stage Ⅲ/Ⅳ and venous tumor thrombus indicate poor prognosis in TFE3 rRCC.

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