araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Biomarkers for Diagnosis and Prognosis of Endometrial Carcinoma

Summary: Endometrial cancer (EC) is the most frequent gynecological malignancy but there is currently lack of both non-invasive diagnostic tools and novel markers to stratify patients based on their risk of future recurrence. Patient care could be improved by advances in these two aspects.
  In the present study, the investigators aim to identify diagnostic serum metabolite and protein biomarker signatures for early detection of cancer in asymptomatic high-risk population and prognostic biomarkers for selection of patients with poor prognosis.

Detailed description: Rationale: Endometrial cancer (EC) is the most frequent gynaecological malignancy in the developed world. Optimal treatment of EC depends on early diagnostics and pre-operative stratification to appropriately select the extent of surgery and to plan further therapeutic approach. Currently, invasive endometrial histology is the gold standard for diagnosis, as there are no valid non-invasive methods available, and patient stratification is based on histopathology and surgical findings. There is a great need for efficient and reliable screening test for asymptomatic women with high risk of EC including Lynch syndrome patients and tamoxifen treated patients. In addition, a prognostic test is needed to stratify pre-operatively EC patients with high risk of progression in need of radical surgery together with adjuvant chemo/ratio therapy from EC patients with good prognosis. In this project the investigators are addressing this lack of non-invasive diagnostic and prognostic biomarkers of EC.
  Objective: the investigators aim to identify diagnostic serum metabolite and protein biomarker signatures for early detection of cancer in asymptomatic high-risk population and (secondary objective) prognostic biomarkers for selection of patients with poor prognosis.

Eligibility: Inclusion Criteria Cases:
  -  endometrioid, serous, clear cell or mucinous endometrial cancer
  -  dedifferentiated endometrial cancer
  -  high grade or low grade endometrial cancer
  Inclusion Criteria Controls:
  -  benign uterine diseases, e.g. myoma uteri, prolapsed uterus
  -  prophylactic hysterectomy for Lynch syndrome
  Exclusion Criteria Cases:
  -  atypical hyperplasia
  -  other types of cancer
  -  sarcoma uteri
  -  previous diagnosis of endometrial cancer
  Exclusion Criteria Controls:
  -  any cancer
  -  benign ovarian diseases
  -  previous EC
  -  pregnancy at the time of enrollment

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Comparison of the Effectiveness Metformin for Deceasing Proliferative Marker in Endometrial Cancer Cells

Summary: Comparison of the effectiveness metformin versus placebo for deceasing proliferative marker Ki-67 expression in endometrial tumours when given for 4 weeks before hysterectomy in endometrial cancer cells.

Detailed description: Endometrial cancer is one of the most common gynecological cancers. Preclinical studies in endometrial cancer (EC) show that metformin reduces cellular proliferation by PI3K-AKT-mTOR inhibition. The investigators tested the hypothesis that short-term presurgical metformin reduces cellular proliferation in endometrial cancer. However, no good quality of evidence base supports the effectiveness of metformin for deceasing proliferative marker in endometrial cancer.

Eligibility: Inclusion Criteria:
  -  Women with endometrial cancer who undergoing complete surgical staging and agrees to participate in this study
  Exclusion Criteria:
  -  Women without diabetes type 1 and 2
  -  Women who have allergy Biguanide
  -  Women who have hypoglycemic medication
  -  Women who have GFR <45 ml/min/1.73 m2
  -  Women who have evidence of stage 3 or 4 of endometrial cancer

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: PROMOTE Study: Prediction of Response Of HorMOnal Treatment in Advanced and Recurrent Endometrial Cancer

Summary: The PROMOTE study aims at optimising use of hormonal therapy in advanced stage and recurrent endometrial cancer analysing tumor tissue taken before start of hormonal therapy

Detailed description: There is limited consensus about the position of hormonal treatment in advanced and metastatic endometrial carcinoma (EC). This is due to lack of good quality data on patient selection, and predictive biomarkers. Consequently, consideration of hormonal therapy is subjected to personal experience of the treating physician, rather than on refined clinical and up-to-date molecular criteria. Hormonal therapy has limited side-effects, and is better tolerated than systematic chemotherapy. Since EC patients are often elderly women with comorbidities, more effective and less aggressive treatment options are needed, underlining the urgency of an explorative study on this topic.
  Endometrial cancer is the most common malignancy of the female genital tract in developed countries, with increasing incidence due to obesity and increased life expectancy. Most patients are diagnosed at an early stage, and have a favourable prognosis with surgery alone. Yet, 20% of the patients present with advanced or metastatic EC and have a poor outcome even with systemic treatment. Response rate of chemotherapy in advanced or metastatic EC is 30-60%, dependent of previous chemotherapy, with a progression free survival (PFS) of 3-14 months and 40% treatment related morbidity. In comparison, response to hormonal therapy is 20%-40%, with side effects in less than 5%. The overall PFS is 3 months, yet for those who respond the PFS can be up to several years.
  To improve selective use of hormonal therapy in EC by evaluating applied hormonal therapy in advanced and metastatic EC and correlate response to molecular tumour analysis and translate this knowledge after validation into clinical practice

Eligibility: Inclusion Criteria:
  -  Advanced stage (FIGO stage III and IV) and recurrent endometrial cancer
  -  All histologic types of endometrial carcinoma
  -  Planned treatment with any type of hormonal therapy
  -  Biopsy taken within 120 days prior to start of hormonal therapy with no intercurrent therapy between biopsy and start of hormonal therapy.
  Exclusion Criteria:
  -  Adjuvant hormonal therapy started following complete resection of endometrial carcinoma
  -  Synchronous use of hormonal therapy for other indications
  -  Endometrial sarcoma or endometrial stroma cell sarcoma

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: MSI in Circulatory DNA of Endometrial Cancer

Summary: This study aims to analyze the microsatellite instability (MSI) in the circulatory tumor DNA and in the tumor tissue in the patients diagnosed with uterine endometrial cancer. These data will be used for the study of "Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer" (NCT03291106, clinicaltrials.gov).


Eligibility: Inclusion Criteria:
  -  Confirmed primary endometrial cancer before any surgical or chemotherapy treatment
  -  Signed an approved informed consents
  -  Feasible for sampling
  Exclusion Criteria:
  -  Not meeting all of the inclusion criteria

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Secondary Cancers in Myeloproliferative Neoplasms (MPN-K Study)

Summary: The incidence of secondary cancer (SC) in patients with myeloproliferative neoplasms (MPN) is high and comparable to that of thrombosis. However, the identification of patient subgroups that might be at increased susceptibility of developing SC has not been systematically addressed. This international case-control study (MPN-K) is aimed to elucidate the prognostic role of JAK2V617F mutation in predicting the occurrence of SC in patients with classical MPN, polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF)

Detailed description: For each recruited case with concomitant diagnosis of myeloproliferative neoplasms (MPN) and secondary cancer each participating center will provide up 3 control patients (1 control for each case could be accepted but the optimal number is 3). Controls are patients with myeloproliferative neoplasms and no history of cancer. Each control will be matched to the paired case for sex, age (+/- 3 years), date of MPN diagnosis (+/- 5 years), and MPN disease duration (+/- 3 years).
  Each control is censored at the date of the secondary cancer occurrence in his matched case (index date).
  Data will be collected retrospectively from pre-existing medical records and reported by each center on a web-based and validated eCRF developed to record y all study data. In order to maintain patient privacy, all data records will be treated anonymously and no personal data to identify patient will be recorded: patients will be identified in the study by an alphanumeric code.

Eligibility: Inclusion Criteria:
  -  Diagnosis of Philadelphia-negative Myeloproliferative Neoplasms (MPN) according to PVSG, 2008 and 2016 WHO criteria, including:
  -  Polycythemia Vera (PV)
  -  Essential Thrombocythemia (ET)
  -  Myelofibrosis (MF), including both primary and secondary MF
  -  Diagnosis performed between 1st January 2000 to 31 December 2016
  -  Diagnosis of secondary cancer(s) performed concurrently or subsequently the diagnosis of MPN
  Exclusion Criteria:
  - Diagnosis of cancer occurred before the diagnosis of MPN (PV, ET, MF)

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Aprepitant Versus Hydroxyzine in Persistent Aquagenic Pruritus for Patients With Myeloproliferative Neoplasms

Summary: Phase 3, randomized prospective study, double blind-double placebo, testing oral therapies APREPITANT versus HYDROXYZINE in patients followed for myeloproliferative neoplasms and suffering of persistent aquagenic pruritus.

Detailed description: Identification of patients with myeloproliferative neoplasms and aquagenic pruritus. Evaluation of the intensity of the aquagenic pruritus. Patients with value >5/10 on the VAS (Visual Analogue Scale ) are proposed to participate to the protocole. Randomization between the two treatments. Duration of the treatment : 14 days. Regular evaluation of efficacity of the drugs (questionnaires). Evaluations will stop 2 months after the last intake. Blood samples will be collected before and after the intakes to study cytokine and neuropeptide levels.

Eligibility: Inclusion Criteria:
  -  Major patients with myeloproliferative neoplasms (polycythemia vera, essential thrombocythaemia or myelofibrosis)
  -  and treated with hydroxyurea, pipobroman, anagrelide, α2a pegylated interferon, ruxolitinib or bled for more than 6 months
  -  and suffering of persistent aquagenic pruritus
  -  and with a pruritus intensity on Analogic Visual Scale >5/10
  -  patients who gave their written consent for participation in the study
  Exclusion Criteria:
  -  patients with a physical or psychological disability to sign the consent form
  -  patients with myeloproliferative neoplasms and suffering of aquagenic pruritus but only treated by aspirin
  -  patients already included in another therapeutic protocol
  -  patients with diffuse dermatological disease where pruritus may be present (psoriasis, atopic dermatitis, prurigo
  -  patients already on anti-anxiety and / or anti-depressant treatment
  -  patients with absolute contraindications to the use of Aprepitant or Hydroxyzine
  -  hypersensitivity to Aprepitant and / or Hydroxyzine or to any of their excipients
  -  lactose intolerance
  -  pregnant or lactating women

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Urinary miRNA in Endometrial Cancer Study

Summary: This study is a prospective feasibility study with the addition of a retrospective cohort study on the the expression of microRNA in urine in endometrial cancer patients.


Eligibility: Inclusion Criteria:
  -  Confirmed diagnosis of endometrial cancer
  -  Age: 18 years or older
  Exclusion Criteria:
  -  Prior or coexisting other malignancies
  -  Autoimmune disorders (other than diabetes mellitus)

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Cervical and Endometrial Injection for Sentinel Lymph Node Detection in Endometrial Cancer

Summary: The investigators think that trans-cervical endometrial tracer injection will cause more paraaortic sentinel lymph node detection. Also, this application is easy, cost-effective and safer than hysteroscopic method. Transtubal tumor spearing will not occur with this method.

Detailed description: Endometrial tracer injection will be performed by cervical or transcervical endometrial methods. Pelvic and para-aortic sentinel lymph node detection capacity will be assessed in this study.

Eligibility: Inclusion Criteria:
  -  Endometrial Cancer Patients
  -  Suitable patients for surgical staging
  Exclusion Criteria:
  -  Patients who cannot undergo cervical or transcervical endometrial injection
  -  Pathology did not confirm endometrial cancer
  -  Sarcoma of the uterine corpus
  -  If a 90-day follow-up was not feasible

Relevance to patient case: not relevant
Patient case: 58-year-old female with endometrial cancer; genetic feature: PIK3R1

Clinical trial: Ketohexokinase Isoforms in Endometrial Cancer.

Summary: Our preliminary analysis with clinical database suggested that, in patients with type I endometrial cancer, high ketohexokinase-expressing group have lower survival probabilities than low ketohexokinase-expressing group. To understand the importance of ketohexokinase expression and isoform switch during the development of type I endometrial cancer, we propose a series of in vitro experiments and clinical examinations in this project.


Eligibility: Inclusion Criteria:
  -  >20 years
  -  Women with endometrial cancer who are about to be admitted to hospital for gynecological staging.
  -  Women who have undergone gynecological staging surgery for endometrial cancer in the past.
  Exclusion Criteria:
  -  Women with endometrial cancer who receive preoperative chemotherapy or radiation therapy.

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Genetic Predictors of Incident Cardiovascular Disease

Summary: To evaluate how current genetic information about cardiovascular disease susceptibility genes contributes to the prediction of future cardiovascular disease outcomes.

Detailed description: BACKGROUND:
  During the 1980s and 1990s, genetic research in cardiovascular disease (CVD), as well as other common chronic diseases, has been dominated by single gene linkage and association studies focused on understanding of the genetics of prevalent disease. Rarely have there been studies of the longitudinal predictive value of these genetic variations. Furthermore, few studies have attempted to address the complex and high-dimensional genetic reality that underlies an individual's risk of disease. A crucial next step in CVD genetic research is the evaluation of the contribution of variations in many genes simultaneously, and their interactions with traditional risk factors, to the longitudinal prediction of CVD in individuals and families.
  DESIGN NARRATIVE:
  The study uses participants from the Rochester Family Heart Study (RFHS) which provides one of the richest genetic epidemiological resources for this type of study. The RFHS represents 3941 individuals distributed among 552 three- generation pedigrees ascertained without regard to health status during two phases of collection. Phase I was from 1984 - 1988 and Phase II was from 1988 - 1991. These participants have extensive demographic, physiological, genetic, and clinical information measured at baseline. This study builds upon this already established resource by conducting a longitudinal follow-up of the RFHS participants to address two central questions: 1) Do measured genetic variations in known susceptibility genes provide additional predictive information about risk of future CVD outcomes beyond the information provided by more traditional risk factors? and 2) Do these measured genetic variations explain patterns of disease aggregation in families and can these patterns be used to predict disease in future generations?

Eligibility: No eligibility criteria

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Safety and Tolerability Study of FG-3019 in Patients With Idiopathic Pulmonary Fibrosis

Summary: The purpose of this study is to evaluate the safety and tolerability of FG-3019, a therapeutic antibody designed to block the pro-fibrotic activity of connective tissue growth factor (CTGF). CTGF triggers the production of collagen and fibronectin, which cause scarring and thickening of the lungs. Approximately 18 to 27 males and females, 21 to 80 years of age with a diagnosis of idiopathic pulmonary fibrosis (IPF) will be enrolled in this study. The duration of the study is approximately one month, during which patients will receive a single infusion of FG-3019. In addition, there will be two follow-up visits 6 and 12 months after receiving the study drug.


Eligibility: Inclusion Criteria:
  -  are 21 to 80 years of age
  -  have a diagnosis of IPF by surgical lung biopsy or according to the American Thoracic Society criteria
  Exclusion Criteria:
  -  have a history of significant exposure to organic or inorganic dust or drugs known to cause IPF
  -  have interstitial lung disease other than IPF
  -  have pulmonary fibrosis associated with connective tissue disease
  -  have other forms of idiopathic interstitial pneumonia, such as desquamative interstitial pneumonia, acute interstitial pneumonia, nonspecific interstitial pneumonia, or cryptogenic organizing pneumonia
  -  have end-stage IPF (total lung capacity of less than 45% of predicted value)
  -  are listed for lung transplantation at the time of study enrollment
  -  have significant heart problems
  -  are pregnant or lactating (if female)

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: The Use of Nesiritide in Thoracic Aneurysm Repair to Prevent Acute Renal Failure

Summary: The purpose of this trial is to study the use of nesiritide in thoracic aneurysm repair to prevent acute renal failure.
  The study hypothesis: Nesiritide, given prophylactically prior to surgery may prevent acute renal failure requiring dialysis and/or decrease mortality.

Detailed description: Acute renal failure is a major and serious complication of more than 200,000 cardiovascular surgeries performed on adult Americans annually (www.sts.org). The incidence of acute renal failure (ARF) after cardiac surgery (depending on criteria used to define ARF) is 1-5%, in the absence of preexisting renal dysfunction. The subset of patients with thoracic aortic aneurysm surgery have a higher risk for the development of postoperative ARF (25-40% - ARF defined as doubling of serum creatinine; 13% - ARF defined as requirement for dialysis). This risk is further increased by various peri-operative factors, especially cardiopulmonary bypass time.
  The overall postoperative mortality rate for cardiovascular surgery is 2.2%, but is much higher for thoracic aortic aneurysm surgery (8-10% for elective repair, 25-50% for ruptured thoracic aorta aneurysm repair). The major risk factor for thoracic aortic aneurysm surgery related mortality is post-operative ARF requiring dialysis. When thoracic aortic aneurysm surgery is complicated by acute renal failure, the mortality rate worsens to 50%. Thus, identifying ways to prevent acute renal failure may have a major impact on the outcome of cardiovascular surgery. A retrospective study of the use of nesiritide in cardiovascular surgery patients by our group has demonstrated a tendency towards a decreased incidence of renal failure and mortality, when the medication is used prophylactically.

Eligibility: Inclusion Criteria:
  -  Age 18 years or older
  -  Undergoing thoracic aortic aneurysm surgery
  -  Impaired renal function
  Exclusion Criteria:
  -  Prior history of allergy/adverse reaction to Nesiritide
  -  History of any organ transplant
  -  Preoperative intra-aortic balloon pump (IABP)
  -  Decompensated congestive heart failure (CHF)

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: STARZ-TX2 Clinical Study: Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft

Summary: The STARZ-TX2 trial (Study of Thoracic Aortic Aneurysm Repair with the Zenith TX2(R) TAA [Thoracic Aortic Aneurysm] Endovascular Graft) is a clinical trial approved by the United States Food and Drug Administration (FDA) to study the safety and effectiveness of the Zenith TX2 TAA Endovascular Graft in the treatment of thoracic aortic aneurysms / ulcers.

Detailed description: The STARZ-TX2 trial (Study of Thoracic Aortic Aneurysm Repair with the Zenith TX2(R) TAA Endovascular Graft) is a clinical trial approved by the FDA to study the safety and effectiveness of the Zenith TX2(R) TAA Endovascular Graft in the treatment of thoracic aortic aneurysms / ulcers. Instead of making a large incision in the chest, the physician makes a small incision near the groin to insert and guide the graft into place in the aorta, relieving pressure on the aneurysm and helping to reduce the risk of rupture.
  The Zenith TX2 TAA Endovascular Graft is a reinforced fabric tube that is sized to the length of the aorta that needs to be covered to seal off the aneurysm / ulcer. The graft is made of a polyester material like that used in open surgical repair. Standard surgical suture is used to sew the graft material to a frame of self-expanding stainless steel stents, which provide support. The materials used in the Zenith TX2 system have a long history of use in medical implants.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed with aneurysms / ulcers of the descending thoracic aorta
  -  Patients who are candidates for either surgery or endovascular repair
  -  Patients at least 18 years old
  Exclusion Criteria:
  -  Age < 18 years
  -  Patients with other medical condition (e.g., cancer, congestive heart failure) that may cause non-compliance with the protocol, confound the results, or with limited life expectancy (i.e., less than 2 years)
  -  Patients pregnant, breast-feeding, or planning on becoming pregnant within 24 months
  -  Patients unwilling or unable to comply with the follow-up schedule
  -  Patients unable or who refuse to give informed consent
  -  Patients simultaneously participating in another investigative device or drug study. (The patient must have completed the primary endpoint of any previous study at least 30 days prior to enrollment in this study.)

Relevance to patient case: not relevant