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

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