Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
AbstractApproximately 27 –36 million patients in Europe have one of the ~ 5.000–8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to im prove the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly , and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g.PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer.
The interleukin 3 receptor (CD123) is a transmembrane protein that is absent or hardly expressed on normal hematopoietic stem cells, but highly expressed on the surface of cancer cells in several hematologic malignancies. In this issue of the JCI, Togami et al. investigated the mechanism of resistance to the recently approved anti-CD123 agent tagraxofusp, which consists of interleukin 3 fused to a truncated diphtheria toxin (DT) molecule. The authors demonstrated that loss of the intracellular target for DT, diphthamide, a conservative modification of histidine 715 in eukaryotic elongation factor 2, resulted in tagraxofusp...
Tumor-resident lymphocytes can mount a response against neoantigens expressed in microsatellite-stable gastrointestinal (GI) cancers, and adoptive transfer of neoantigen-specific lymphocytes has demonstrated antitumor activity in selected patients. However, whether peripheral blood could be used as an alternative minimally invasive source to identify lymphocytes targeting neoantigens in patients with GI cancer with relatively low mutation burden is unclear. We used a personalized high-throughput screening strategy to investigate whether PD-1 expression in peripheral blood could be used to identify CD8+ or CD4+ lymphocytes ...
ABSTRACT Objective: Preoperative functional evaluation is central to optimizing the identification of patients with non-small cell lung cancer (NSCLC) who are candidates for surgery. The minute ventilation/carbon dioxide output (VE/VCO2) slope has proven to be a predictor of surgical complications and mortality. Pulmonary rehabilitation programs (PRPs) could influence short-term outcomes in patients with COPD undergoing lung resection. Our objective was to evaluate the effects of a PRP on the VE/VCO2 slope in a cohort of patients with COPD undergoing lung resection for NSCLC. Methods: We retrospectively evaluated 25 consec...
To demonstrate techniques to regulate and improve the safety and completeness of laparoscopic and robotic radical hysterectomy/radical trachelectomy (L-RH/RT+R-RH/RT=MI-RH/RT) for early invasive cervical cancer. We will present our techniques and skills as well as data on our long-term outcomes for MI-RH/RT patients.
To investigate the long term oncological follow up results and the relevant clinicopathologic prognostic factors for early stage (St IB1) cervical carcinoma patients who were surgically treated with Robot Assisted Radical Hysterectomy (RARH) or Open Radical Hysterectomy (ORH) from 2005 to 2012 at The Norwegian Radium Hospital.
To compare the CareMe-Plus methylation and colposcopy biopsy to triage patients who test HPV-positive or abnormal LBC results for further treatment.
This video is intended for any gynecologic surgeon who is performing risk-reducing surgery in their practice. We intend to review the “best practices” recommended by ACOG when performing a risk-reducing bilateral salpingo-oophorectomy (RR-BSO) in patients with Hereditary Breast and Ovarian Cancer Syndrome.
Robotic assistance may facilitate completion of minimally invasive hysterectomy, which is the standard of care for the treatment of early-stage endometrial cancer, in patients for whom conventional laparoscopy is challenging. The aim of this systematic review was to assess conversion to laparotomy and perioperative complications after laparoscopic (LH) and robotic hysterectomy (RH) in endometrial cancer patients with obesity.
We present our experience performing single port access total laparoscopic hysterectomy and bilateral salpingo-oophorectomy (SPA-TLH BSO) on a woman after TRAM surgery.
Ovarian cancer arising from benign endometriotic has been widely reported. cystic adenomyoma is a rare form of adenomyosis. And clear cell carcinoma arising from cystic adenomyosis is even more unusual. Here we report a case of clear cell carcinoma arising from cystic adenomyosis treated with laparoscopic surgery.