Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.

Genetic analysis of a pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.

Application of QF-PCR in amniotic fluid rapid prenatal diagnosis / 中国基层医药

Objective:To assess the clinical value of quantitative fluorescent polymerase chain reaction(QF-PCR) in rapid prenatal diagnosis.Methods:From May 2018 to May 2019, 1 190 amniotic fluid samples were detected by QF-PCR to check out aneuploidies of 13, 18, 21, X and Y, then the results were compared with those of traditional karyotype analysis.Results:The 33 abnormities including 20 cases with trisomy 21, 4 cases with trisomy 18 and 9 abnormities of sex chromosomes were checked out in 1190 amniotic fluid samples by rapid diagnosis.Conclusion:As a common rapid diagnostic method, QF-PCR has advantages of rapid and accurate, but still cannot completely replace the conventional karyotype analysis.

Germline mutations of TP53 gene among Chinese families with high risk for breast cancer / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.</p><p><b>METHODS</b>A total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.</p><p><b>RESULTS</b>Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.</p><p><b>CONCLUSION</b>The TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.</p>

Single-center report of 118 cases of free abdominal lfaps for breast reconstruction / 中国癌症杂志

Background and purpose:Along with the development of diagnosis and treatment technology, the disease free survival and overall survival of breast cancer have been extended. In order to improve the quality of life after mastectomy, more and more breast reconstructions were applied in breast cancer patients. We retrospectively reviewed 118 cases of free abdominal lfaps for breast reconstruction performed in Fudan University Shanghai Cancer Center. Clinical outcomes, reconstructive techniques and experiences are discussed. Methods:From November, 2006 to June, 2013, we used free abdominal lfaps to perform 118 cases of breast reconstruction on 117 female patients after mastectomy. We observed the surgery, complications and safety of this technic. Results:We performed 118 cases of lfaps based on deep inferior epigastric vessels. The average operation time was 7.72 h. The average time of ischemia was 78.74min. The average anastomosis time was 60.83min. The average number of perforators included in the lfap was 3. The internal thoracic vessels were preferred recipient vessels. Ten cases of vessel crisis occurred and 6 of them were venous thrombosis and 4 cases were venous kink. Seven of them were salvaged, and the other 3 failed, the success rate was 97.46%. Postoperative infection rate was 7.00%. Abdominal bulge occurred in 3.50%of patients. None of the patients developed abdominal hernia. The median interval between surgery and the ifrst cycle of adjuvant chemotherapy was 19 days. The median follow-up time was 12 months. One case of distant metastasis, but no local recurrence was observed. Conclusion: Although free abdominal flap breast reconstruction requires complicated microsurgical techniques, and the learning curve does exist, free abdominal lfap breast reconstruction has a high success rate with oncological safety and few complications.

The combination of navelbine and epirubicin as neoadjuvant chemotherapy in the treatment of locally advanced breast cancer / 中国癌症杂志

Purpose: To evaluate the efficacy and toxicity of Navelbine( NVB) and Epirubicin ( Epi -ADM) as the neoadjuvant chemotherapy in the treatment of locally advanced breast cancer. Methods: From September 2001 to February, 2003, 76 cases, LABC patients ( II b ~ HI b ) were treated with NE chemotherapy before operation. Neoadjuvant chemotherapy regimens containing vinorelbine( N), 25 mg/m (days 1 and 8) and epirubicin( E), 60 mg/m (days 1) were administered every 3 weeks for three cycles before local treatment. The response in the primary tumor and the regional lymph nodes and the chemotherapy toxicity were observed for each patient. Results: The response in the primary tumor: clinical objective response was 84. 2% (19.7% (15/76) CR and 64. 5% (49/76) PR) , 14. 5% (11/76) SD and 1.3% (1/76) PD. Pathological complete response was found in 11 cases( 14. 5%). 9 cases (28. 1%) who have positive FNA result in the regional lymph node before chemotherapy showed negative result in the surgery specimen. The most common toxicities are leukocytopenia, nausea/vomiting and alopecia. Leucopenia grade 3-4 was reported in 54. 2% of the patients but there were no chemotherapy related toxic deaths. Conclusions: The combination of Vinorelbine and Epirubicin is a very active and well-tolerated regimen as neoadjuvant chemotherapy for the LABC.