OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

OBJECTIVE: To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes. METHODS: The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342). RESULTS: Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months. CONCLUSION The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Female ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Adult ; Adolescent ; Chromosomes, Human, Pair 11/genetics* ; Child ; Transcriptional Elongation Factors/genetics* ; Gene Rearrangement ; Oncogene Proteins, Fusion/genetics* ; Retrospective Studies ; Young Adult ; Middle Aged ; Prognosis ; Child, Preschool ; DNA-Binding Proteins/genetics*

Objective To investigate the association of the total burden of cerebral small vessel disease （CSVD） with the level of tumor necrosis factor-α（TNF-α） and prognosis in patients with ischemic stroke （AIS）. Methods A total of 120 patients with AIS who were admitted to our hospital from January 2022 to December 2023 were enrolled as subjects， and all patients underwent cranial MRI scanning. Baseline data and TNF-α level were compared between the patients with different total burden scores of CSVD， and the correlation between TNF-α level and CSVD total burden score was analyzed. TNF-α level and CSVD total burden score were compared between the AIS patients with different prognoses to investigate the influence of TNF-α and CSVD total burden score on the short-term prognosis of AIS， as well as their value in predicting the short-term prognosis of AIS. Results There were significant differences in age， the proportion of patients with hyperlipidemia， the proportion of patients with smoking， and the levels of TNF-α and Hcy between the patients with different CSVD total burden scores （P<0.05）. The level of TNF-α was positively correlated with the number of lacunar cerebral infarcts， Fazekas score of white matter lesions， and EPV score （r=0.654， 0.775， 0.820， P<0.05）， but it had no linear correlation with the number of cerebral microbleeds （r=-0.035，P>0.05）. The logistic regression analysis showed that before correction， age， hyperlipidemia， smoking， TNF-α，and Hcy were significantly correlated with lacunar infarction， white matter lesions， EPV severity， cerebral microbleeds，and CSVD total burden score （P<0.05）， and after correction， TNF-α was still significantly correlated with lacunar infarction， white matter lesions，cerebral microbleeds， EPV severity， and CSVD total burden scores （P<0.05）. There were significant differences in CSVD total burden score and TNF-α between the patients with a good prognosis and those with a poor prognosis（P<0.05）.TNF-α combined with CSVD total burden score had the largest area under the receiver operating characteristic curve（AUC） of 0.912 in predicting the short-term prognosis of AIS，which was significantly higher than the AUC of TNF-α or CSVD total burden score used alone（P<0.05）. Conclusion The increase in TNF-α level has a certain relationship with CSVD total burden score and short-term prognosis in AIS patients， and the combination of TNF-α level and CSVD total burden score has a relatively high clinical application value in predicting the short-term prognosis of AIS patients.
Prognosis

Objective To investigate the association of blood pressure variability （BPV） with early neurological deterioration （END） and prognosis in patients with acute mild non-disabling ischemic stroke. Methods The patients with acute mild non-disabling ischemic stroke who were admitted to Stroke Center of Affiliated Hospital of Inner Mongolia University for Nationalities from January 2022 to August 2024 were enrolled， and according to the presence or absence of END， they were divided into non-END group and END group. General information， clinical data， and outcome measures were collected from all patients， and a binary logistic regression analysis was performed to determine independent risk factors for END. According to the modified Rankin Scale （mRS） score， the patients were divided into good prognosis group （mRS score ≤2 points） and poor prognosis group （mRS score >2 points）， and a univariate logistic regression analysis was performed to investigate the influence of END on the 90-day neurological function prognosis of patients. Results A total of 61 patients were enrolled， with 14 patients in the END group and 47 patients in the non-END group. There was a significant difference in the coefficient of systolic pressure variation between the END group and the non-END group （P<0.05）. The binary logistic regression analysis showed that systolic BPV（BPV>75%） was an independent risk factor for END （OR=14.000， 95%CI 1.471‒133.233，P=0.011）.Compared with the non-END group， the END group had a significantly higher proportion of patients with a poor 90-day prognosis.Of all patients， there were 11 patients with poor prognosis and 50 patients with good prognosis on day 90. The univariate logistic regression analysis showed that END （OR=19.556，95%CI 4.038‒94.696，P<0.001） was an independent risk factor for poor prognosis. Conclusion In patients with acute mild non-disabling ischemic stroke， the increase in coefficient of systolic pressure variation is an independent risk factor for END and affects the prognosis of neurological function on day 90.
Prognosis

BACKGROUND

Early-stage endometrial cancer often presents with favorable survival rates, but high-risk factors, including TP53 mutations and high-grade serous pathology, can lead to recurrence and poor prognosis. The standard primary treatment for endometrial cancer is surgical staging, and lymph node metastases significantly impact adjuvant therapy decisions. The subgroup of p53-abnormal (p53abn) indicates the worst prognosis and potential benefits from adjuvant chemotherapy. Molecular classification, while recommended, faces practical challenges due to resource constraints.

OBJECTIVES

The study aimed to assess the incidence of p53 abnormal expression in clinical stage 1 endometrial cancer cases that underwent surgery at a government tertiary hospital, and assess its relationship with clinicopathologic factors and pelvic and paraaortic lymph node metastasis (LNM).

METHODS

A cross-sectional retrospective analysis was conducted on clinical early-stage endometrial cancer cases that underwent surgical primary treatment between January 2018 and December 2022. Patient records were reviewed to gather demographics, surgical information, and pathological evaluations. Preoperative clinical staging was determined through imaging, and surgical staging involved comprehensive lymphadenectomy. Immunohistochemistry studies for p53 were carried out on formalin-fixed paraffin-embedded tissue samples.

RESULTS

A total of 233 endometrial cancer cases were included. The mean age at diagnosis was 53.7 years. Common comorbidities included hypertension (47.2%) and dyslipidemia (20.6%). Most cases were endometrioid histology (82.8%) and low-grade tumors (85.8%). Tumor grade (p=0.010), myometrial invasion (p<0.001) and lymphovascular space invasion (p<0.001) significantly correlated with lymph node metastasis. However, tumor size and p53abn were not significantly associated with lymph node metastasis. p53abn overexpression was significantly associated with non-endometrioid histology at 33% and Grade 3 tumors at 23%. Preoperative grading demonstrated moderate reliability (0.51) with postoperative grading, with an agreement of 65.4%.

CONCLUSION

Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.

Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment

Colorectal cancer (CRC) is one of the most common malignant tumors in China, ranking second in morbidity and fourth in mortality. Metastasis and recurrence are the leading causes of patient death, and the peritoneum is a frequent site of metastasis in CRC, second only to liver and lung metastases. However, the prognosis of peritoneal metastasis is much worse than hepatic and pulmonary metastasis. CRC peritoneal metastasis is challenging early diagnosis, presents with severe symptoms, and has a poor prognosis. It is crucial to emphasize standardized diagnosis and treatment for CRC peritoneal metastasis to improve patients' outcome and enhance their quality of life. This consensus, based on evidence-based medical evidence, revised the "Chinese Expert Consensus on the Diagnosis and Treatment of Colorectal Cancer Peritoneal Metastasis (2022 edition)" and reached a preliminary consensus on the definition, diagnosis, treatment, and prevention of CRC peritoneal metastasis, with the aim of guiding and standardizing the diagnosis and treatment of CRC peritoneal metastasis, developing reasonable and effective comprehensive treatment plans, prolonging survival time and improving quality of life for CRC peritoneal metastasis patients, thereby raising the overall level of diagnosis and treatment for CRC in China.
Humans ; Peritoneal Neoplasms/therapy* ; Colorectal Neoplasms/diagnosis* ; Consensus ; Quality of Life ; Prognosis ; China

OBJECTIVE: To investigate the effect of intraoperative blood salvage autotransfusion on local recurrence and long-term metastasis of patients after carotid body tumor resection. METHODS: We retrospectively reviewed a consecutive series of 61 patients undergoing elective carotid body tumor resection from August 2009 to December 2020. Among them, 14 received intraoperative blood salvage autotransfusion (autotrasfusion group) and 47 did not (non-autotransfusion). Data of general information, surgical status and postoperative follow-up results were collected. RESULTS: The proportion of Shamblin Ⅲ in the autotransfusion group was 85.7%, which was significantly higher than 31.9% in the non-autotransfusion group (P=0.003). The average operation time of the 14 patients in the autotransfusion group was (264±84) min, intraoperative blood loss was 1 200 (700, 2 700) mL, and autologous blood transfusion was 500 (250, 700) mL. Of these, 8 patients (57%) required concomitant allogeneic blood with 400 (260, 400) mL of allogeneic blood. The average operation time of the 47 patients in the non-autotransfusion group was (153±75) min, and the intraoperative blood loss was 300 (100, 400) mL. Of these, 6 (13%) required allogeneic blood transfusion, and 520 (400, 520) mL of allogeneic blood was used. Compared with the non-autotransfusion group, the average operation time in the autologous blood transfusion group was significantly longer (P < 0.001), and the intraoperative blood transfusion volume was larger (P=0.007). Of the 14 patients undergoing autotransfusion, 8 (57%) needed allogeneic blood at the same time; while in the 47 non-autologous transfusion patients, 6 (13%) needed allogeneic blood transfusion. The proportion of autotransfusion group using allogeneic blood at the same time was even higher (P=0.002). The incidence of nerve injury within 30 days after surgery was 29.5%, and there was no significant difference between the two groups. No early deaths occurred. The average follow-up was (76±37) months. One case of local recurrence occurred in the non-autotransfusion group. There was no distant metastasis. There were no tumor-related deaths. The estimated 5-year and 10-year overall survival rates were 96.4% and 83.8%, respectively. There was no significant difference in overall survival between the two groups (P=0.506). CONCLUSION The use of intraoperative blood salvage autotransfusion increased no risk of local recurrence and distant metastasis in patients with carotid body tumor, which is safe and effective in carotid body tumor resection.
Humans ; Blood Transfusion, Autologous/methods* ; Operative Blood Salvage/methods* ; Retrospective Studies ; Male ; Female ; Carotid Body Tumor/pathology* ; Middle Aged ; Prognosis ; Neoplasm Recurrence, Local ; Blood Loss, Surgical ; Aged ; Adult ; Operative Time

OBJECTIVE: To investigate the safety and prognostic factors influencing the treatment of upper urinary tract urothelial carcinoma (UTUC) combined with bladder cancer (BCa) by laparoscopic simultaneous radical cystectomy and nephroureterectomy (RCNU). METHODS: The clinical data of patients admitted to Peking University Third Hospital for laparoscopic RCNU surgery from January 2009 to September 2023 were analyzed retrospectively. Based on the same gender, age (±5 years), history of uroepithelial tumors, underlying diseases, T-stage, N-stage, M-stage, American Society of Anesthesiologists (ASA) score, Charlson comorbidity index, and body mass index (BMI) (±5), 34 patients with RCNU were matched 1 ∶1 with patients with bladder cancer who underwent laparoscopic radical cystectomy (RC) alone. Kaplan-Meier survival analysis was used to calculate patient survival, and Cox proportional regression risk model was used to analyze clinical factors affecting prognosis. RESULTS: Of the 68 patients enrolled, the follow-up rate was 100% with a median follow-up time of 27.0 (11.7, 60.2) months. Comparison of intraoperative conditions (including operation time, estimated intraoperative bleeding, intra-operative blood transfusion, etc.) between the two groups of patients showed no significant difference (P>0.05). Comparison of preoperative creatinine and postoperative creatinine between the two groups of patients showed significant differences (P < 0.05). The perioperative Clavien grade Ⅲ-Ⅳ complication rates were 2.9% (1/34) in the RC group and 5.9% (2/34) in the RCNU group. There was no significant difference in terms of perioperative complications between the two groups. Overall survival was significantly lower in the patients receiving RCNU compared with the matched group receiving RC alone (P < 0.05). Cox regression analysis suggested that two factors, high N stage and high postoperative creatinine, were independent risk factors affecting the prognosis of patients in the 2 groups (P < 0.05). CONCLUSION The overall survival prognosis of patients undergoing RCNU surgery was worse compared with laparoscopic RC surgery alone during the same period. There was no clinically significant difference between the two groups in terms of operation time, intraoperative bleeding, and perioperative complications, and there were clinically significant differences in preoperative renal function and post-operative renal function.
Humans ; Laparoscopy/methods* ; Nephroureterectomy/methods* ; Cystectomy/methods* ; Prognosis ; Male ; Retrospective Studies ; Female ; Urinary Bladder Neoplasms/mortality* ; Middle Aged ; Aged

OBJECTIVES: Ovarian cancer is a common gynecologic malignancy, with poor prognosis in advanced stages. This study aimed to identify differentially expressed long noncoding RNA (lncRNA) associated with ovarian cancer prognosis and to explore the effects of lncRNA RP11-499E18.1 on the malignant biological behavior of ovarian cancer cells. METHODS: Ovarian cancer-related lncRNA datasets were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed and prognostically relevant tumor-suppressive lncRNAs were screened using lncRNA sequencing combined with clinical data. Reverse transcription PCR (RT-PCR) was used to detect the expression of lncRNA RP11-499E18.1 in ovarian cancer tissues, adjacent normal tissues, the IOSE80 normal ovarian epithelial cell line, and various ovarian cancer cell lines. Fluorescence in situ hybridization (FISH) was performed to determine its subcellular localization. Ovarian cancer cell lines CaOV3 and SKOV3 were divided into 3 groups: a negative control (NC) group, a knockdown (si-RP11-499E18.1) group, and a overexpression (pcDNA-RP11-499E18.1) group. Methyl thiazolyl tetrazolium (MTT) and Transwell assays were used to assess the effects of lncRNA RP11-499E18.1 on cell proliferation and migration. Western blotting was used to evaluate its effect on epithelial-mesenchymal transition (EMT)-related molecules. BALB/c nude mice were injected with CaOV3 cells transfected with pcDNA-RP11-499E18.1 (experimental group) or empty vector (control group), and tumor growth was monitored. Immunohistochemistry was used to assess the expression of Caspase 3 and Ki67 in tumor tissues. RESULTS: LncRNA sequencing identified RP11-499E18.1 as a differentially expressed and associated with prognosis. GEO data analysis showed that low RP11-499E18.1 expression was correlated with shorter overall and progression-free survival (both P<0.05). Its expression was significantly lower in ovarian cancer tissues and cell lines compared to normal controls (P<0.05 or P<0.001), and it was localized in both the nucleus and cytoplasm. In CaOV3 and SKOV3 cells, proliferation rates increased significantly in the si-RP11-499E18.1 group and decreased in the pcDNA-RP11-499E18.1 group (P<0.05 or P<0.001). Cell migration was enhanced in the si-RP11-499E18.1 group and suppressed in the pcDNA-RP11-499E18.1 group. Overexpression increased E-cadherin and decreased vimentin expression, while knockdown had the opposite effect. Tumor volume in the mouse model was significantly smaller in the experimental group (P<0.001), with increased Caspase 3 and decreased Ki67 expression in tumor tissues (both P<0.05). CONCLUSIONS LncRNA RP11-499E18.1 inhibits proliferation, migration, and EMT of ovarian cancer cells, and its low expression is associated with poor prognosis.
Female ; Humans ; RNA, Long Noncoding/physiology* ; Ovarian Neoplasms/pathology* ; Cell Line, Tumor ; Animals ; Mice ; Mice, Nude ; Cell Proliferation ; Prognosis ; Mice, Inbred BALB C ; Gene Expression Regulation, Neoplastic ; Cell Movement ; Epithelial-Mesenchymal Transition

Atypical placental site nodules (APSN) are a rare form of trophoblastic disease in pregnancy. There is limited research on APSN, and treatment methods are controversial, with unclear prognosis. This study collected clinical and prognostic data of 5 patients diagnosed with APSN at Xiangya Hospital of Central South University from June 2008 to June 2023, aiming to provide a better understanding of the prognosis of APSN patients and offer scientific evidence for clinical treatment. The average age of the 5 APSN patients was 32.60 years, and all patients underwent dilation and curettage or hysteroscopic surgery or hysteroscopic surgery without hysterectomy. Except for one patient who was lost to follow-up after 30 days, the remaining 4 patients were followed up for 1.36 to 4.61 years. During the follow-up, gynecological ultrasound did not show abnormalities, and serum human chorionic gonadotropin (HCG) tests were negative, with no evidence of malignancy. A search of both English and Chinese databases yielded 8 articles reporting the diagnosis, treatment, and follow-up outcomes of APSN, with 37 cases cumulatively followed up. Among them, 2 (5.41%) cases developed epithelial trophoblastic tumors or placental site trophoblastic tumors during follow-up, but there is insufficient evidence to determine whether these tumors directly originated from APSN or were secondary to APSN. Currently, there is no direct evidence suggesting that APSN has the potential for malignant transformation. Patients with APSN who have completed their childbearing may consider preserving their uterus, but close follow-up is needed to further evaluate the prognosis.
Humans ; Female ; Pregnancy ; Adult ; Trophoblastic Tumor, Placental Site/pathology* ; Uterine Neoplasms/diagnosis* ; Prognosis ; Dilatation and Curettage ; Chorionic Gonadotropin/blood*