Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by the mutations in the NF1 gene, with an incidence of approximately 1/3 000. Affecting multiple organs and systems throughout the body, NF1 caused a wide variety of clinical symptoms. A comprehensive multidisciplinary diagnostic and treatment model is needed to meet the diverse needs of NF1 patients and improve their quality of life. In recent years, the emergence of targeted therapies has further benefited NF1 patients, and the number of clinical consultations has increased dramatically. However, due to the rarity of the disease itself and insufficient attention previously, the standardized, systematic, and precise diagnosis and treatment model of NF1 still needs to be further improved. In this paper, we reviewed the current status of comprehensive diagnosis and treatment of NF1 in China, combine with our long-term experiences in diagnosis and treatment of this disease. Meanwhile, we propose future directions and several suggestions for the comprehensive diagnosis and treatment model for Chinese NF1 patients.
Non-small cell lung cancer is one of the cancers with the highest incidence and mortality rate in the world, and precise prognostic models can guide clinical treatment plans. With the continuous upgrading of computer technology, deep learning as a breakthrough technology of artificial intelligence has shown good performance and great potential in the application of non-small cell lung cancer prognosis model. The research on the application of deep learning in survival and recurrence prediction, efficacy prediction, distant metastasis prediction, and complication prediction of non-small cell lung cancer has made some progress, and it shows a trend of multi-omics and multi-modal joint, but there are still shortcomings, which should be further explored in the future to strengthen model verification and solve practical problems in clinical practice.
Cardiovascular disease and cancer are the two leading chronic conditions contributing to global mortality. With the rising incidence of cancer, the prevalence of cancer therapy-related cardiovascular complications has also increased, driving the development of the emerging field of cardio-oncology. The advancement of precision medicine offers new opportunities for the individualized and targeted management of cardiovascular toxicities associated with cancer treatment. Artificial intelligence (AI) has the potential to overcome traditional limitations in medical data integration, dynamic monitoring, and interdisciplinary collaboration, thereby accelerating the application of precision medicine in cardio-oncology. By enabling personalized treatment and reducing cardiovascular complications in cancer patients, AI serves as a critical tool in this domain. This article provides an in-depth interpretation of the “Artificial intelligence to enhance precision medicine in cardio-oncology: a scientific statement from the American Heart Association” aiming to inform the integration of AI into precision medicine in China. The goal is to promote its application in the management of cardiovascular diseases related to cancer therapy and to achieve precision management in this context.
ObjectiveTo summarize the application of radiomics in colorectal cancer.MethodsRelevant literatures about the therapeutic decision-making, therapeutic, and prognostic evaluation of colorectal cancer using radiomics were collected to make an review.ResultsRadiomics is of great value in preoperative stages, therapeutic, and prognostic evaluation in colorectal cancer.ConclusionRadiomics is an important part of precision medical imaging for colorectal cancer.
Liddle syndrome and Gordon syndrome are two rare single-gene inherited hypertension diseases. In patients≤40 years, the prevalence of Liddle syndrome is about 1% and Gordon syndrome is uncertain all over the word, for which is often misdiagnosed and mistreated. The therapies of those diseases are targeted at gene mutation sites, as well as combined with modified lifestyle, and can achieve satisfactory diseases control. This paper reports a patient who is diagnosed with Liddle syndrome and Gordon syndrome at the same time. We aimed to consolidate and improve the diagnosis and accurate treatment of those two diseases by sharing, studying and discussing together with clinical doctors.
ObjectiveTo explore the value of multidisciplinary team (MDT) discussion in the comprehensive treatment of HER-2 positive breast cancer.MethodThe clinical data of 2 patients with HER-2 positive breast cancer admitted to the Affiliated Hospital of Southwest Medical University after MDT discussions were analyzed retrospectively.ResultsCase 1 was a 32-year-old woman diagnosed with left breast non-special type invasive carcinoma at admission, cT2N1M0, stage ⅡB, WHO grade 2, ER (–), PR (–), HER-2 (+++), Ki-67 (+, 20%). After MDT discussion, the patient was treated with neoadjuvant chemotherapy for 6 cycles, and the efficacy evaluation was partial response, received left breast conserving surgery and axillary lymph node dissection (ALND), postoperative staging ypT1aN1ycM0, stage ⅡA, Miller-Payne grade 4, the patient was satisfied with the shape of breast, received radiotherapy and anti-HER-2 therapy after surgery. At present, there was no recurrence and metastasis during anti-HER-2 therapy. Case 2 was diagnosed with right breast non-special type invasive carcinoma at admission, cT3N0M0, stage ⅡB, WHO grade 3, ER (–), PR (–), HER-2 (+++), Ki-67 (+, 40%), local advanced breast cancer. After MDT discussion, the patient was treated with neoadjuvant chemotherapy for 2 cycles, and the efficacy evaluation was progressive disease. After the replacement of two neoadjuvant chemotherapy regimen, the efficacy evaluation was still progressive disease. Finally after MDT discussion, the patient received right breast mastectomy and ALND, postoperative staging ypT4bN1ycM0, stage ⅢB, Miller-Payne grade 1, received radiotherapy, adjuvant treatment with pyrotinib and capecitabine after surgery. The patient was followed up for 3 months by telephone, the patient did not follow the doctor’ instructions, no recurrence and metastasis was found in the review.ConclusionUnder the precision medical system, comprehensive treatment of breast cancer based on the MDT model could target patients’ disease characteristics, physical conditions, previous diagnosis and treatment, family situation, and other individual factors, formulate the best personal treatment plan for patients, and bring greater benefits to patients.
ObjectiveTo review the progress of radiomics in the field of colorectal cancer in recent years and summarize its value in the imaging diagnosis of colorectal cancer.MethodsEighty English and seven Chinese articles were retrieved through PUBMED, OVID, CNKI, Weipu and Wanfang. The structure and content of these literatures were classified and analyzed.ResultsIn five studies predicting the preoperative stages of colorectal cancer based on CT radiomics, the area under curve (AUC) ranged from 0.736 to 0.817; in two studies predicting the preoperative stages of colorectal cancer based on MRI radiomics, the AUC were 0.87 and 0.827 respectively. In two studies about radiomics analysis for evaluation of pathological complete response to neoadjuvant chemoradiotherapy based on CT, the AUC were 0.79 and 0.72 respectively; in four studies about radiomics analysis for evaluation of pathological complete response to neoadjuvant chemoradiotherapy based on MRI, the AUC ranged from 0.84 to 0.979. In one study evaluating the sensitivity of neoadjuvant chemotherapy based on MRI radiomics, the AUC was 0.79. In one study predicting the postoperative survival rate based on MRI radiomics, the AUC value of the final model was 0.827. In one study, the accuracy of the model based on PET/CT radiomics in 4-year disease-free survival (DSS), progression-free survival (DFS) and overall survival (OS) were 0.87, 0.79 and 0.79 respectively.ConclusionAt present, radiomics has a valuable impact on preoperative staging, neoadjuvant therapy evaluation, and survival analysis of colorectal cancer.
With the advancement of thyroid tumor treatment concepts and the progress of standardized treatment processes nationwide, the 5-year survival rate of thyroid tumors in China has risen from 67.5% in 2003 to 84.3% in 2015. As China has been continuously enriching its treatment options for advanced thyroid cancer in recent years, gradually improving the standardized treatment system for early and intermediate thyroid cancer, enhancing multidisciplinary collaboration methods and concepts, and regularizing scientific statistics, the survival rate of thyroid tumors continues to improve. We still need to consider the future development direction and core driving force of China’s thyroid discipline, correctly view the “prosperous” stage of domestic thyroid discipline development, and actively review the future development direction of China’s thyroid discipline.
Along with the popularity of low-dose computed tomography lung cancer screening, an increasing number of early-stage lung cancers are detected. Radical lobectomy with systematic nodal dissection (SND) remains the standard-of-care for operable lung cancer patients. However, whether SND should be performed on non-metastatic lymph nodes remains controversy. Unnecessary lymph node dissection can increase the difficulty of surgery while also causing additional surgical damage. In addition, non-metastatic lymph nodes have been recently reported to play a key role in immunotherapy. How to reduce the surgical damage of mediastinal lymph node dissection for early-stage lung cancer patients is pivotal for modern concept of "minimally invasive surgery for lung cancer 3.0". The selective mediastinal lymph node dissection strategy aims to dissect lymph nodes with tumor metastasis while preserving normal mediastinal lymph nodes. Previous studies have shown that combination of specific tumor segment site, radiology and intraoperative frozen pathology characteristics can accurately predict the pattern of mediastinal lymph node metastasis. The personalized selective mediastinal lymph node dissection strategy formed from this has been successfully validated in a recent prospective clinical trial, providing an important basis for early-stage lung cancer patients to receive more personalized selective lymph node dissection with "precision surgery" strategies.
ObjectiveTo summarize the application of circulating free DNA (cfDNA) in the diagnosis and treatment of hepatocellular carcinoma (HCC). MethodThe relevant literature on the application of cfDNA in the diagnosis and treatment of HCC both domestic and international was reviewed and summarized. ResultsThe cfDNA is an emerging biomarker in recent years. At present, the different detection methods had been reported in a large number of studies to detect abnormal methylation, hot spot mutation, gene copy number variation, quantitative detection of cfDNA concentration, etc. It was found that the cfDNA could be used in the management process of early diagnosis, treatment guidance, and efficacy evaluation of HCC patients. ConclusionscfDNA detection is a good tool in the diagnosis and treatment of HCC, which can help clinicians make-decisions and bring more possibilities for the diagnosis and treatment of HCC, which is of great significance for changing the current diagnosis and treatment of HCC. However, there are still many challenges in cost control, technology optimization, and standardization of evaluation indicators. With the continuous progress of molecular biology technology and artificial intelligence, the application of cfDNA in diagnosis and treatment of HCC will be further expanded, its advantages will be better played, and the related shortcomings will be gradually solved.