2020 is really a special year. Originally thought to be a lively Chinese New Year, it changed everything because of a menacing virus. The new coronary pneumonia makes people awaken the importance of health… In the field of colorectal cancer, American clinical tumors The KEYNOTE-177 study at the annual meeting of the Society (ASCO) is a breakthrough of the routine, with gratifying results… Previously, a basic article on immunotherapy was published in the public account. Let me talk about the results of this key research today… …Progress in immunotherapy of colorectal cancer:  . . The KEYNOTE-177 study presented as LBA4 at the Plenary session of the 56th Annual Meeting of the American Society of Clinical Oncology (ASCO) proved that Pembrolizumab compared to standard chemotherapy ± target To treat first-line treatment of microsatellite highly unstable type (MSI-H)/mismatch repair defect (dMMR) metastatic colorectal cancer (mCRC), the efficacy of colorectal cancer immunotherapy has brought new breakthroughs and is expected to change Rewrite guidelines and norms in the field of treatment. Study details: KEYNOTE-177 study, in the first-line treatment of MSI-HmCRC patients, head-to-head comparison of Pembrolizumab and the standard treatment selected by the investigator (mFOLFOX6 or FOLFIRI chemotherapy ± targeted bevacizumab or cetuximab )Efficacy. In the treatment group chosen by the investigators, less than 20% of patients received chemotherapy, about 70% of patients received chemotherapy combined with bevacizumab, and 10% of patients received chemotherapy combined with cetuximab. The Pembrolizumab treatment group significantly prolonged the patient’s median progression-free survival (mPFS, 16.5 months to 8.2 months, HR 0.60, 95% CI 0.45-0.80, P = 0.0002). The mPFS was The latter is twice. The objective response rate (ORR) data showed that the pabolizumab treatment group was 43.8%, which was significantly higher than the researcher’s choice of the treatment group 33.1%. I believe that the US NCCN colorectal cancer guidelines will be updated soon, and China’s CSCO guidelines should also be changed. We will expect the guidelines to bring us new basis and bring new gratifying results for this part of the income group…Now can consult Specialist, my friend in Yunnan can consult me if I need advice, I wish you health!
Recently, in two research reports published in the international journal Nature Communications, scientists from institutions such as the Walter and Eliza Institute in Australia discovered through research that two new gene mutations may induce a rare epilepsy. Research has made great contributions to the efforts of scientists all over the world for decades. At the same time, the researchers also tracked the origin of a genetic mutation, a gene that has been spontaneously mutated for more than 5,000 years ago, and the researchers have developed a new technology that can target samples (even small sample groups). ) To detect special mutations called “repetitive expansion”, while also being able to trace the origin of these mutant ancestors. Repetitive problems Familial adult myoclonic epilepsy (FAME, Familialadultmyoclonicepilepsy) is a rare form of epilepsy that has a family hereditary and usually begins when the individual is 20 or 30 years old, usually by a major Gene mutation, which means that even if it is rare in the general population, the children of sick parents have a 50/50 probability of inheriting the disease. FAME has many subtypes, namely FAME1, FAME2, FAME3 and FAME4. Researchers have carried out more than 20 years of global efforts to find the genetic cause of these epilepsy. Now researchers have discovered that mutations in the genes STARD7 and MARCH6 will induce FAME2 and FAME3, respectively. Gene mutations are an unusual type called repeat expansion, which is usually directly related to the occurrence of neurological diseases, including Huntington’s disease, ataxia, autism, and FAME. Researcher Rafehi said that elucidating the genetic causes of these disorders may help researchers diagnose FAME patients and other neurological diseases through repetitive expansion. Genetic diagnosis is very important for patients, because it can give patients diagnostic results and can help develop potential treatments. The researchers said that for the first time, families suspected of having FAME can be referred for testing and have a high chance of obtaining a life-changing and definitive genetic diagnosis. The mystery for decades now researchers have developed highly specific bioinformatics tools to identify this repetitive expansion, which may make them a pioneer in the study of this rare disease; researcher Bennett said that global The research took more than 20 years to find genetic mutations that induce FAME in Australian and global families. In past studies, researchers have determined the genetic cause of FAME, and also found that the disease is caused by repetitive expansion; detection The repetitive expansion in DNA is very difficult. For this reason, the researchers developed a tool called exSTRa (expanded short tandem repeat algorithm, expandedshorttandemrepeatalgorithm) to find reproducible expansion in the entire genome, even for small databases. Applicable, this is very important, because the standard analysis method can not detect the repetitive expansion in DNA, so as a cause of disease, it is often overlooked. Researchers can use the exSTRa tool to identify genes that are mutated in familial FAME patients. Researcher Bennett said that many patients often wait many years to know their cause, even if they have offspring. Identifying genes related to FAME may be very important for in-depth understanding of the pathogenesis of the disease. Based on the results of this study, researchers may eventually be able to develop diagnostic and treatment methods for FAME patients. A veteran researcher Rafehi said that the software we developed can help researchers track the genetic family tree of the MARCH6 mutation. By comparing the DNA sequence around the mutation, we found that all patients with FAME3 subtypes carry the same MARCH6 mutation. This indicates that they may all be distant relatives, and now researchers can infer the age of the MARCH6 mutation, and FAME3 may start from a single spontaneous mutation in the European population before 253 generations, that is, large