ABSTRACT
【Objective】 To investigate the clinical features and gene analysis of one pedigree with multiple endocrine neoplasia type 2A （MEN2A） so as to clarify the diagnosis and classification of the disease， guide treatment and prevention， and improve prognosis. 【Methods】 The clinical data of a 36-member MEN2A family， including 6 probands， with medullary thyroid carcinoma， were investigated， and the peripheral blood genomic DNA of 28 family members （blood sample of one proband was not collected） was extracted. PCR amplification was performed on exons 8， 10， 11， 13， 14， 15 and 16 of the RET gene， and the products were directly sequenced. 【Results】 Review of the medical history showed that two probands with medullary thyroid carcinoma were accompanied with hyperparathyroidism， and one family member had pheochromocytoma. The RET gene mutation test confirmed that 13 family members， consisting of 5 probands and 8 family members， had the RET proto-oncogene exon 10 missense mutation. The heterozygous missense had mutation c.1852T>A， leading to the conversion of cysteine （TGC） at position 618 to serine （AGC） （Cys618Ser）. All subjects carrying RET gene Cys618Ser mutation had abnormal thyroid ultrasound change， accompanied with elevated calcitonin levels. Subjects carrying wild type of RET gene had normal calcitonin levels. The family was finally diagnosed with MEN2A by RET gene detection. 【Conclusion】 RET gene detection plays key role in the diagnosis and treatment of patients with MEN2A family and has guiding value in the follow-up and prognosis of asymptomatic carriers. There is a positive correlation between calcitonin level and the RET protooncogene mutation Cys618Ser. Patients suspected of MEN2A should be screened in time.
ABSTRACT
Non-small cell lung cancer (NSCLC) is the most common pathological type of lung cancer. The systemic antitumor therapy of advanced NSCLC has undergone renovations of chemotherapy, targeted therapy and immunotherapy, which results in greatly improved survival for patients with advanced NSCLC. Immune checkpoint inhibitors (ICIs), especially targeting programmed cell death protein 1 (PD-1)/programmed death-ligand 1 (PD-L1), has changed the treatment paradigm of NSCLC. ICIs have become the standard treatment for advanced NSCLC without epidermal growth factor receptor(EGFR) mutation or anaplastic lymphomakinase(ALK) translocation in the first- or second-line setting, and for locally advanced NSCLC following concurrent radiotherapy and chemotherapy. ICIs are also promising in adjuvant/neoadjuvant therapy. More and more ICIs have been approved domestically for the treatment of NSCLC. Led by the NSCLC expert committee of Chinese Society of Clinical Oncology (CSCO), this consensus was developed and updated based on thoroughly reviewing domestic and foreign literatures, clinical trial data, systematic reviews, experts' discussion and the consensus(2019 version). This consensus will aid domestic clinicians in the treatment of NSCLC with ICIs. .
ABSTRACT
Genomic instability remains an enabling feature of cancer and promotes malignant transformation. Alterations of DNA damage response (DDR) pathways allow genomic instability, generate neoantigens, upregulate the expression of programmed death ligand 1 (PD-L1) and interact with signaling such as cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling. Here, we review the basic knowledge of DDR pathways, mechanisms of genomic instability induced by DDR alterations, impacts of DDR alterations on immune system, and the potential applications of DDR alterations as biomarkers and therapeutic targets in cancer immunotherapy.
ABSTRACT
Non-small cell lung cancer (NSCLC) is the most common pathological type of lung cancer, most NSCLC patients are at advanced stage at the time of diagnosis. For patients without sensitive driven-oncogene mutations, chemotherapy is still the main treatment at present, the overall prognosis is poor. Improving outcomes and obtaining long-term survival are the most urgent needs of patients with advanced NSCLC. In recent years, immunotherapy has developed rapidly. Immune checkpoint inhibitors (ICIs), especially targeting programmed death-1 (PD-1)/programmed death-ligand 1 (PD-L1), have made a breakthrough in the treatment of NSCLC, beneficial to patients' survival and changed the treatment pattern for NSCLC. It shows more and more important role in the treatment of NSCLC. Led by NSCLC expert committee of Chinese society of clinical oncology (CSCO), relevant experts in this field were organized. On the basis of referring to domestic and foreign literature, systematically evaluating the results of Chinese and foreign clinical trials, and combining the experiences of the experts, the experts group reached an agreement to develop this consensus. It will guide domestic counterparts for better application of ICIs to treat NSCLC.
ABSTRACT
Medical histories and clinical data of 54 patients with Sheehan's syndrome (SS) in endocrine department from August 2008 to August 2011 were collected and analyzed retrospectively.47 cases of SS were accompanied by pituitary crisis.19 cases had been misdiagnosed previously.The average period from the obstetric events to diagnosis of SS was ( 12.36 ± 1.28 ) years.Intravenous drip of hydrocortisone was given for rescuing pituitary crisis.The average dosages of hydrocortisone for the first 24 hours and the second 24 hours were ( 83.93 ± 7.73 ) and (42.19 ± 5.13 ) mg respectively. 12 cases of SS presented transient psychosis after the regular dosage of oral glucocorticoid replacement.
ABSTRACT
Objective To investigate the prevalence of chronic kidney disease (CKD) and associated factors in Changsha county of Hunan province. Methods Using a stratified, multistage sampling, 1950 residents (older than 20 years old) from 3 towns of Changsha county were randomly selected to be interviewed and tested for the kidney damage indicators and the associated factors with CKD. Results Eligible data of 1727 subjects were enrolled in the study. After the adjustment of age and gender compenent, the prevalence of albuminuria was 8.5%, hematuria 5.1%, and reduced eGFR 1.5%. Approximately 14.6% subjects had at least one indicator of kidney damage, and the awareness rate was 16.5%. Age, hypercholesteremia, hypertriglyceridemia, hypertension and diabetes were independently correlated with albuminuria. Female, age, hypertriglyceridemia and hyperuricemia were independently correlated with reduced renal function. Female was independently correlated with hematuria. Conclusions The prevalence of chronic kidney disease is 14.6% and the awareness rate is 16.5% in suburban adult population of the central south area of China. The spectrum and correlated factors of CKD in this county undergoing fast economic development are close to those of Guangzhou and developed countries.