Volume 106 ·  Issue 17 ·  2026

To explore the relationships of interleukin-7 receptor (IL-7R) gene polymorphisms with the risk of Crohn′s disease (CD), as well as the efficacy of infliximab (IFX) in patients with CD.

The CD patients (CD group) and healthy controls (control group) at the Second Affiliated Hospital of Wenzhou Medical University between January 2020 and May 2025 were retrospectively collected. Genotypes of IL-7R gene at loci rs6897932, rs1494555, rs1494558 were examined in both groups. According to Montreal CD Classification, the disease locations were divided into terminal ileal-type, colonic-type, ileocolic-type and upper gastrointestinal-type. Among CD patients receiving IFX treatment, the clinical response was evaluated by Crohn′s Disease Activity Index (CDAI) at week 14 of follow-up. The patients were divided into the clinical response group (a decline of CDAI≥100 points compared with week 0) and the clinical non-response group. The efficacy of endoscopy was assessed by Simplified Endoscopic Score for Crohn′s Disease (SES-CD) at week 32. The patients were divided into the mucosal healing group (SES-CD≤2 points or absence of mucosal ulcerations) and the mucosal non-healing group. The distribution differences of IL-7R gene polymorphisms were compared between CD group and control group, among CD patients with different clinical phenotypes, between the clinical response group and the clinical non-response group, as well as between the mucosal healing group and the mucosal non-healing group. The genotypes or alleles with distribution differences were included into multivariate logistic regression model to investigate the relationships of IL-7R gene polymorphisms with the risk of CD, the clinical phenotypes, and the clinical efficacy of IFX in CD patients.

The CD group consisted of 303 participants [200 males and 103 females, aged 30 (23, 40) years]. The control group consisted of 514 participants [313 males and 201 females, aged 32 (26, 42) years]. The variant allele (T) [14.0% (85/606) vs 18.5% (190/1 028)] of locus rs6897932 were less frequent in the CD group than that in the control group, but the difference was not statistically significant after adjustment (adjusted P=0.054). The homozygous variant genotype (TT) of locus rs6897932 in the patients with terminal ileal-type and ileocolic-type CD group were less frequent than that with colonic-type CD [0.8% (2/261) vs 9.5% (4/42), adjusted P=0.009]. The homozygous variant genotype (TT) of locus rs6897932 (OR=0.06, 95%CI: 0.01-0.38) was the related factor influencing the terminal ileum involvement (the disease location is terminal ileal-type or ileocolic-type) in CD patients. A total of 112 CD patients were treated with IFX. There were 78 cases in the clinical response group and 34 cases in the clinical non-response group at week 14 of IFX treatment. The variant genotype (CT+TT) [38.5% (30/78) vs 11.8% (4/34), adjusted P=0.015] and variant allele (T) [20.5% (32/156) vs 5.9% (4/68), adjusted P=0.018] of locus rs6897932 in the clinical response group were more frequent than those in the clinical non-response group. The variant genotype (CT+TT) (OR=5.17, 95%CI: 1.54-17.36) of locus rs6897932 was the related factor influencing the clinical response at week 14. There were 43 cases in the mucosal healing group and 69 cases in the mucosal non-healing group at week 32 of IFX treatment. The variant genotype (TC+CC) [65.1% (28/43) vs 85.5% (59/69), adjusted P=0.036] of locus rs1494558 in the mucosal healing group was less frequent than that in the mucosal non-healing group. The variant genotype (TC+CC) (OR=0.24, 95%CI: 0.09-0.71) of locus rs1494558 was the related factor influencing the mucosal healing at week 32.

The homozygous variant genotype (TT) of locus rs6897932 in IL-7R gene may be related with a lower risk of terminal ileum involvement (the disease location is terminal ileal-type or ileocolic-type). In CD patients receiving IFX treatment, the variant genotype (CT+TT) of locus rs6897932 in IL-7R gene may be related with an increased clinical response rate at week 14, while the variant genotype (TC+CC) of locus rs1494558 may be related with a reduced mucosal healing rate at week 32.

To investigate the transcript distribution, rare transcript sequence characteristics and clinical outcomes in patients with BCR::ABL1 fusion gene-positive leukemia.

The patients with newly diagnosed and relapsed BCR::ABL1-positive leukemia who underwent leukemia fusion gene screening at Hebei Yanda Lu Daopei Hospital from April 2012 to December 2024 were retrospectively collected. The clinical data of the patients were collected. The distribution of BCR::ABL1 fusion gene transcripts and the sequences of rare transcripts were analyzed, and the clinical outcomes of patients with rare transcripts were observed.

A total of 990 patients were enrolled, including 592 males and 398 females, with a median age of 37 years (range 1-94 years). All patients were tested positive for only one type of BCR::ABL1 transcript, and no co-expression of different transcripts was observed in the same patient. Common transcripts accounted for 96.3% (953 patients), while rare transcripts accounted for 3.7% (37 patients). Among 325 patients in chronic phase chronic myeloid leukemia (CML) and 85 patients in acute phase CML, P210 was the predominant type, observed in 310 (95.4%) and 80 (94.1%) cases, respectively; rare transcripts were identified in 14 (4.3%) and 5 (5.9%) cases, respectively. Among 511 acute acute B-lymphocytic leukemia (B-ALL) patients, P190 was the predominant type (70.5%), followed by P210 (26.8%) and rare transcripts (2.8%). Two acute T-lymphocytic leukemia (T-ALL) patients exhibited P190 and e6a2 transcripts, respectively. Common transcripts were also predominant in patients with acute myeloid leukemia (AML) and acute leukemias of ambiguous lineage (ALAL), with rare transcripts accounting for 3.8% (1/26) and 4.8% (2/41), respectively. Sequence analysis of 37 rare transcripts revealed that splicing variants occurred in ABL1 exon 3 (e1a3, e14a3, e13a3) in 23 patients (62.2%), and in different exons of BCR (e6a2, e8a2, variant e13a2, e19a2) in 14 patients (37.8%). Both e8a2 and variant e13a2 were associated with intronic insertions of varying lengths. Five patients with the e13a3 transcript responded well to tyrosine kinase inhibitor (TKI) therapy and achieved complete remission; among the 10 patients with e1a3 transcript and 5 patients with e19a2 transcript, 4 and 3 patients died or failed to achieve remission, respectively.

In patients with BCR::ABL1 fusion gene positive leukemia, the transcripts are mainly of the common type, and the rare type is rare. The rare type transcripts show high heterogeneity. The splicing variations mainly occur in ABL1 exon 3 or different exons of BCR, and some are accompanied by intron sequence insertions. Patients with e13a3 type of rare transcripts respond well to TKI treatment, while patients with the e1a3 and e19a2 have poor prognosis.

Compare the preparation effects between quantitative smears of bone marrow aspirate anticoagulated with ethylene diamine tetra-acetic acid dipotassium salt dihydrat (EDTA-K₂) and traditional bedside direct smear and evaluate the clinical application value of the new dual-smear combined testing mode (combining peripheral blood smears with anticoagulated quantitative smears).

A prospective study was conducted, including 180 bone marrow aspirate specimens collected from patients who underwent bone marrow puncture examinations at Zhongshan Hospital, Fudan University, between January and June 2024. Both EDTA-K₂ anticoagulated quantitative smears and bedside direct smears were prepared for each specimen. Based on the different preparation methods, the specimens were divided into an anticoagulated quantitative smear group(n=180) and a bedside direct smear group(n=180), and the differences in bone marrow cell morphology examinations between the two groups were compared. Using the RAND function in Excel, random numbers were generated for the 180 anticoagulated bone marrow aspirate specimens. These random numbers were then sorted in ascending order, and the first 10 EDTA-K₂ anticoagulated bone marrow samples were selected. The impact of storage duration on cell morphology was evaluated after storage periods of 0, 1, 4, 8, 12, and 24 h, respectively. Additionally, the differences in clinical diagnostic concordance rates between the new dual-smear combined testing mode (combining peripheral blood smears with anticoagulated quantitative smears) and the traditional dual-smear combined testing mode (combining peripheral blood smears with bedside direct smears) were compared. Cohen′s Kappa consistency analysis was used to evaluate the diagnostic agreement between the new dual-slide combined detection model and the traditional dual-slide combined detection model.

The morphological quality score of the anticoagulated quantitative smear group was superior to that of the bedside direct smear group [(2.98±0.18) vs (2.58±0.80) points, P<0.001], but the bone marrow smear quality score was lower than that of the bedside direct smear group [(3.08±0.83) vs (3.54±0.76) points, P<0.001]. The proportions of hypercellular and markedly hypercellular smears, the percentage of granulocytic cells, the percentage of erythroid cells, and the total number of megakaryocytes per smear were lower in the anticoagulated quantitative smear group than in the bedside direct smear group, whereas the percentage of lymphocytes was higher. Preparing smears from anticoagulated bone marrow aspirate stored for≤4 h did not significantly affect cell morphology (the proportion of cells with morphological changes was<10% of the respective cell lineage). There were no statistically significant differences in diagnostic concordance rates between the new dual-smear combined testing mode and the traditional dual-smear combined testing mode for multiple myeloma and lymphoma [multiple myeloma: 72.8%(67/92) vs 68.5%(63/92), P=0.388; lymphoma: 72.1%(31/43) vs 69.8% (30/43), P=1.000]. Moreover, both modes demonstrated high diagnostic consistency for multiple myeloma and lymphoma (Kappa values of 0.686 and 0.718, respectively).

The morphological quality of anticoagulated quantitative smears is superior to that of bedside direct smears, and it is recommended to prepare the smears within 4 h of bone marrow aspirate collection. The diagnostic concordance rates between the new dual-smear combined testing mode and the traditional dual-smear combined testing mode are similar, with high diagnostic consistency observed between the two modes.

To evaluate the feasibility of thoracolaparoscopic resection for adenocarcinoma of the esophagogastric junction with left intrathoracic anastomosis performed without patient repositioning. A retrospective analysis was performed on the clinical data of patients who underwent thoracolaparoscopic resection for adenocarcinoma of the esophagogastric junction with left intrathoracic anastomosis without patient repositioning at the Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from August 2016 to January 2020. A total of 39 patients were enrolled (32 males and 7 females), with the age of (64.2±7.2) years. The patients′ surgical status, postoperative pathological stage, postoperative complications, and follow-up information were analyzed. The survival curves were plotted using the Kaplan-Meier method. All 39 procedures were completed successfully with no conversion to thoracotomy or laparotomy. The operative time was 250.0 (223.5, 289.0) min, and intraoperative blood loss was (165±79) ml. Postoperative pathological stages were stage Ⅰ in 13, stage Ⅱ in 4, stage Ⅲ in 11, and stage Ⅳ in 11 patients. R0 resection was achieved in all patients. Postoperative complications included anastomotic leakage in 3 patients (7.7%, 3/39), pulmonary infection in 3 patients (7.7%, 3/39), arrhythmia in 3 patients (7.7%, 3/39), pleural effusion in 3 patients (7.7%, 3/39), incision infection in 1 patient (2.6%, 1/39), gastroesophageal reflux in 5 patients (12.8%, 5/39), and iatrogenic injury of the right mediastinal pleura in 3 patients (7.7%, 3/39). All complications were resolved after conservative treatment. There were no cases of chylothorax, reoperation, ICU admission, or perioperative death. The patients were followed up for a median of 55 (36, 60) months postoperatively. The 1-year and 3-year disease-free survival rates were 87.2% and 69.2%, respectively. The 1-year, 3-year, and 5-year overall survival rates were 92.3%, 74.4%, and 48.1%, respectively. Thoracolaparoscopic adenocarcinoma of the esophagogastric junction resection with left intrathoracic anastomosis performed without patient repositioning appears feasible and has clinical value for broader adoption.

The clinical data of 42 consecutive patients with extracranial carotid artery aneurysms (ECAA) who underwent surgical treatment in the Department of Vascular Surgery, the Second Affiliated Hospital of Nanchang University, from January 2012 to December 2024 were retrospectively collected. Based on the Attigah classification of aneurysms, while evaluating anatomical characteristics such as bifurcation involvement, proximal and distal landing zone conditions, and parent artery tortuosity, combined with etiological risks including infection, inflammation, or trauma, individualized treatment plans were formulated. Ultimately, 36 patients underwent endovascular treatment and 6 cases underwent open surgical treatment. In the perioperative period, immediate postoperative digital subtraction angiography (DSA) or postoperative computed tomography angiography (CTA) was used to evaluate aneurysm exclusion and parent-artery patency. The patients were aged (53.3±7.3) years, including 17 females and 25 males. Among them, there were 20 true aneurysms, 19 pseudoaneurysms, and 3 dissecting aneurysms. The surgical technical success rate was 97.6% (41/42). During the perioperative period, 1 (2.2%) patient developed cranial nerve injury after open surgery. The postoperative follow-up time was (18.5±4.6) months, no deaths occurred, and 2 (4.8%) patients developed in-stent restenosis at 6 months postoperatively. Treatment of ECAA should be individualized according to etiology and anatomic characteristics, and endovascular therapy represents a relatively straightforward, safe, and effective option for ECAA.

A case of rare primary melanoma of the posterior mediastinum is reported. The patient, a 35-year-old male, went to the 988 Hospital of the Joint Logistics Support Force for "sudden right chest pain for more than 2 days". CT of the chest showed a rounded soft tissue mass in the posterior mediastinum with clear borders. MRI showed mass T₁Weighted imaging (T₁WI) showed equal and slightly higher signal, T₂Weighted imaging (T₂WI) showed confounding signals, the enhancement scan showed "fast-forward and fast-out" heterogeneous enhancement, the diffusion-weighted imaging (DWI) showed high signal, and the apparent diffusion coefficient (ADC) showed low signal. Preoperatively misdiagnosed as neurogenic tumor. Postoperative pathological and immunohistochemical staining showed that S-100 protein, melanin A (Melan-A) and human melanoma black-45 (HMB45) were positive. No other primary lesions were found by whole body positron emission computed tomography (PET-CT), and the diagnosis was confirmed as posterior mediastinal primary melanoma. Regular follow-up is recommended for patients after surgery. This case suggests that the imaging findings of posterior mediastinal primary melanoma lack specificity and are prone to misdiagnosis. MRI multi-sequence imaging (especially T₁WI signal characteristics and enhancement pattern) have important suggestive value for its diagnosis. The final diagnosis depends on pathology and immunohistochemistry, and metastasis needs to be ruled out.