Oral squamous cell carcinoma (OSCC) is a common head and neck malignancy. Approximately 50% to 60% of patients with OSCC are diagnosed at a locally advanced stage (clinical staging III-IVa). Even with comprehensive and sequential treatment primarily based on surgery, the 5-year overall survival rate remains below 50%, and patients often suffer from postoperative functional impairments such as difficulties with speaking and swallowing. Programmed death receptor-1 (PD-1) inhibitors are increasingly used in the neoadjuvant treatment of locally advanced OSCC and have shown encouraging efficacy. However, clinical practice still faces key challenges, including the definition of indications, optimization of combination regimens, and standards for efficacy evaluation. Based on the latest research advances worldwide and the clinical experience of the expert group, this expert consensus systematically evaluates the application of PD-1 inhibitors in the neoadjuvant treatment of locally advanced OSCC, covering combination strategies, treatment cycles and surgical timing, efficacy assessment, use of biomarkers, management of special populations and immune related adverse events, principles for immunotherapy rechallenge, and function preservation strategies. After multiple rounds of panel discussion and through anonymous voting using the Delphi method, the following consensus statements have been formulated: 1) Neoadjuvant therapy with PD-1 inhibitors can be used preoperatively in patients with locally advanced OSCC. The preferred regimen is a PD-1 inhibitor combined with platinum based chemotherapy, administered for 2-3 cycles. 2) During the efficacy evaluation of neoadjuvant therapy, radiographic assessment should follow the dual criteria of Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1 and immune RECIST (iRECIST). After surgery, systematic pathological evaluation of both the primary lesion and regional lymph nodes is required. For combination chemotherapy regimens, PD-L1 expression and combined positive score need not be used as mandatory inclusion or exclusion criteria. 3) For special populations such as the elderly (≥ 70 years), individuals with stable HIV viral load, and carriers of chronic HBV/HCV, PD-1 inhibitors may be used cautiously under the guidance of a multidisciplinary team (MDT), with close monitoring for adverse events. 4) For patients with a poor response to neoadjuvant therapy, continuation of the original treatment regimen is not recommended; the subsequent treatment plan should be adjusted promptly after MDT assessment. Organ transplant recipients and patients with active autoimmune diseases are not recommended to receive neoadjuvant PD-1 inhibitor therapy due to the high risk of immune related activation. Rechallenge is generally not advised for patients who have experienced high risk immune related adverse events such as immune mediated myocarditis, neurotoxicity, or pneumonitis. 5) For patients with a good pathological response, individualized de escalation surgery and function preservation strategies can be explored. This consensus aims to promote the standardized, safe, and precise application of neoadjuvant PD-1 inhibitor strategies in the management of locally advanced OSCC patients.

OBJECTIVE: To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome. METHODS: Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin. RESULTS: The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA . CONCLUSION Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
Female ; Pregnancy ; Humans ; Male ; Prenatal Diagnosis ; Genetic Testing ; Fetus ; Syndrome ; Mothers ; Fathers

Objective:To investigate the potential prognostic value of cyclin D1 expression in patients with locally advanced oral squamous cell carcinoma (OSCC) and its relationship with taxol (Docetaxel)/cisplatin plus 5-fluorouracil (TPF) induction chemothera-py. Methods:A total of 256 patients with locally advanced OSCC were selected from Shanghai Ninth People's Hospital of Shanghai Ji-ao Tong University School of Medicine between March 2008 and December 2010 as the objects of study in this prospective randomized clinical trial. The effect of TPF induction chemotherapy was investigated. Immunohistochemical staining against cyclin D1 was per-formed in the pretreatment biopsy specimen of the patients. The relationship between cyclin D1 expression and prognostic data of the TPF induction arm and control arm was analyzed. Results:Cyclin D1 expression was detected in 232 out of the 256 patients. Patients with low cyclin D1 expression showed significantly better overall survival (OS) (P=0.001), disease-free survival (DFS) (P=0.003), lo-coregional recurrence-free survival (LRFS) (P=0.004), and distant metastasis-free survival (DMFS) (P=0.001) than those with high cy-clin D1 expression. No significant differences existed in OS, DFS, LRFS, or DMFS between the patients with TPF induction chemother-apy and the control. Cyclin D1 expression levels were not predictive of the benefit from TPF induction chemotherapy in the overall pop-ulation. However, patients with nodal stage cN2 and high cyclin D1 expression, who were undergoing TPF chemotherapeutic regimen, showed significantly higher OS (P=0.024) and DMFS (P=0.024) than cN2 patients with high cyclin D1 expression but undergoing stan-dard surgical treatment. Conclusion:Cyclin D1 can be used as a prognostic biomarker for patients with locally advanced OSCC. Fur-thermore, cN2 OSCC patients with high cyclin D1 expression can receive long-term benefit from the addition of TPF induction chemo-therapy to standard surgical treatment.

Objective:To analyze survival in patients with advanced oral cancer from prospective clinical trials. Methods:From 2008 to 2010, 256 patients with oral cancer at clinical stage III/IVA were randomly categorized into two groups. Patients in the experi-mental group received neo-adjuvant chemotherapy, surgery, and post-operative radiation, and patients in the control group underwent surgery and post-operative radiation. All patients were routinely followed-up after treatments. Survival was analyzed using Kaplan–Meier method and log-rank test, and differences were considered statistically significant at P value lower than 0.05. Results: Each group was composed of 128 patients. With the median follow-up period of 60 months, the 5-year overall survival rate was 61.7%and the disease-free survival rate was 53.9%. The overall survival rate (P=0.350) and the disease-free survival rate (P=0.160) were not sig-nificantly different between the experimental and control groups. Patients with positive pathological response to neo-adjuvant chemo-therapy exhibited significantly improved overall survival (P＜0.05). Conclusion:Radical surgery should be emphasized to improve the prognosis of oral cancer. Functional reconstruction could also improve the quality of life and survival of patients. Despite that neo-adju-vant chemotherapy could not improve the survival of patients with advanced oral cancer in entirety, it could benefit patients exhibiting positive treatment responses.

OBJECTIVETo use combined comparative genome hybridization (array-CGH) and conventional karyotype analysis to study the relationship between ultrasonographic abnormalities of fetuses and chromosomal aberrations.

METHODSOne hundred twenty two fetuses with ultrasonographic abnormalities in middle and late trimesters suspected with chromosomal abnormalities were collected between March 2012 and February 2013.

RESULTSThe pregnant women had an average age of 31 yr (22-38), among whom 35 were above the age of 35. The average gestational age was 27(+5) weeks (18-37 weeks), and the most common abnormal findings have involved heart, central nervous system and bones. Multiple malformations were found in 49 cases. The success rate of the combined methods was 100%. In 24 (19.7%) of the cases, a chromosomal abnormality was detected. Among all cases, 16 (13.1%) were detected by the combined method (12.3%). Seventeen cases (13.9%) of chromosomal abnormalities and 4 cases (3.3%) of polymorphic variation were detected by karyotype analysis, and 23 cases (8.9%) of abnormalities were detected by array-CGH. Meanwhile, 7 cases (5.7%) of abnormalities were detected by array-CGH, but the results of karyotype analysis were normal. One case (0.8%) with low level of chromosome chimerism detected by the karyotype analysis was missed by array-CGH.

CONCLUSIONThe results suggested that multiple congenital deformity of the fetus has a strong correlation with chromosomal abnormalities. For fetuses with ultrasonographic abnormalities, array-CGH can improve the detection sensitivity of the chromosomal disease.

Adult ; Chromosome Aberrations ; Chromosome Banding ; methods ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; genetics ; Gestational Age ; Humans ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal ; methods ; Young Adult

Objective To study the cellular affinity of the inorganic active element bone scaffold materials. Methods The specific surface area, pore size distribution, porous ratio, permeability ratio of the inorganic active element bone scaffold materials were evaluated in vitro. Human marrow mesenchymal stem cells(MSCs) were cultured and identified by the flow cytometry, the third passage of the cells were used to culture with scaffold materials, to compare with the cells cultured with pure fetal calf serum as the control group. MTT assay was used to examine the effects of scaffold materials on MSCs viability, the growth of cells was observed by scanning electron microscope (SEM). Results The specific surface area of the inorganic active element bone scaffold materials was 210 m2/g, mean pore size was 6 nm, porous ratio was 90 %, and permeability ratio was34 %. MTT assay showed significant difference in the number of cells between the scaffold materials and the control group (P ＜ 0.05 ) on the seventh day, MSCs co-cultured with scaffold materials exhibited good growth as observed under SEM. Conclusion The inorganic active element bone scaffold materials possess preferable cellular affinity, which could be an overall-developed and high potential scaffold material of bone tissue engineering.