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Primary and secondary brain tumors, the leading cause of death from cancer before the age of 35, represent a complex and heterogeneous group of pathologies with a generally poor prognosis. Knowledge of these tumors has made enormous strides thanks to access to biological samples, leading to a much more robust, reliable and precise histo-pronostic classification, but also, increasingly, to the identification of theranostic targets. Despite these advances, there is a real need to refine diagnostic and prognostic classification, identify the biological mechanisms involved in the formation and progression of these pathologies, develop new targeted strategies, and devise...
Primary malignant central nervous system (CNS) tumors are the second most common childhood malignancies. Amongst, medulloblastomas are the most common malignant brain tumor of childhood and occur primarily in the cerebellum. According to molecular characteristics, medulloblastomas were classified into four subtypes: WNT, SHH, Group3 and Group4 and different prognosis were noticed between subgroups. Several genetic predispositions related to clinical outcome were also discovered and might influence the treatment of medulloblastomas as novel pharmaceutical targets. This study aims to investigate genetic and cellular profiles of pediatric brain malignancies, mostly medulloblastomas,...
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment....
Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome associated with activating mutations in the RET proto-oncogene, combining medullary thyroid cancer in approximately 100% of cases and pheochromocytoma in 10-80% of cases. While it is accepted that the RET mutation causes variable penetrance of pheochromocytoma in the MEN2A patient population, there is no pathophysiological explanation for the phenotypic variability among patients with the same mutation, including within the same family. The aim of this study is to better characterise the genetic factors that may explain the variable penetrance of pheochromocytoma in MEN2. To this end, the investigatoes plan to perform...
This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)
The GAP Study is a prospective cohort study designed to comprehensively investigate genetic variations that may contribute to cancer development among individuals diagnosed with appendix/appendiceal cancer who are ages 18+ years.
Cerebral and medullary arteriovenous malformations (AVMs) lead to arterial and venous networks to communicate pathologically, creating an arteriovenous shunt. The occurrence of intracranial haemorrhage is the most important prognostic factor of AVMs because it is associated with a significant morbidity and mortality. The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known and the influence of genetic damage on the prognosis of AVMs is poorly known.
The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours (prolactinomas), but we wish to extend work to other pituitary tumour cases/families. The recruitment process will be as follows. 1. We will recruit patients from our own Endocrine outpatient clinics and inpatient wards. In addition we will ask colleagues in other Endocrinology Departments (or other specialties such as Clinical Genetics,Pathology, General Medicine ) to identify potentially suitable patients with endocrine & pituitary...
This phase II trial studies how well genetic testing works in guiding treatment for patients with solid tumors that have spread to the brain. Several genes have been found to be altered or mutated in brain metastases such as NTRK, ROS1, CDK, PI3K, or KRAS G12C. Medications that target these genes such as abemaciclib, paxalisib, entrectinib and adagrasib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Genetic testing may help doctors tailor treatment for each mutation.
Studies have shown that tumors from the same patient may respond very differently to the same therapeutic agents. This study aims to investigate the genetic basis of tumors that respond abnormally well or poorly to therapeutic agents in an effort to understand the fundamental genetic basis of this response. The present protocol seeks to retrospectively perform Exome, next-generation (DNA) sequencing and/or other molecular techniques on tumor samples to identify the genetic basis of a patient's exceptional response to chemotherapy.
