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

Clinical trial: Cardiac Changes in Myeloproliferative Neoplasms

Summary: Myeloproliferative neoplasms are heterogeneous group of clonal hematopoietic stem cell neoplasms with excessive proliferation of one or more of the erythroid, megakaryocytic, or myeloid lineages and relatively normal maturation resulting in increased numbers of red cells, platelets, and/or granulocytes in the peripheral blood. Constitutive tyrosine kinase activation appears to be a common pathogenetic mechanism.

Detailed description: According to worldwide study of prevalence of myeloproliferative neoplasms revealed:
  Incidence of polycythemia vera ranged 0.01 to 2.61 per 100.000 population and the prevalence ranging from 0.49 to 46.88 per 100.000 population. Incidence of essential thrombocythemia is 0.21 to 2.27 per 100.000 population, prevalence ranging between 11.00 - 42.51 per 100.000 population.
  Primary myelofibrosis incidence is 1.15 -4.99 per 100.000 population and prevalence ranging between 1.76 - 4.05 per 100.000 population.In previous studies, cardiac involvement including coronary arterial thrombosis, myocardial infarction, pulmonary hypertension, asymptomatic pericardial effusion, cardiac tamponade, intractable cardiac failure due to intraventricular stenosis and valvular stenosis that occur in myeloproliferative neoplasms. There is a few number of studies in which cardiac lesions were evaluated in myeloproliferative neoplasms by using transthoracic echocardiography but still inadequate, so we need to understand more about cardiovascular complications in myeloproliferative neoplasms.

Eligibility: Inclusion Criteria:
  -  Diagnostic criteria of myeloproliferative neoplasms.
  Exclusion Criteria:
  -  Extreme body weight e.g., morbid obesity.
  -  Cardiac disease.
  -  Cerebrovascular disorders.
  -  Diabetes mellitus.
  -  Dyslipidemia.

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

Clinical trial: Can 3D Ultrasound be Used as an Alternative to MRI to Assess Myometrial Invasion in Endometrial Cancer?

Summary: Aim: Assess the diagnostic accuracy of 3D Ultrasound, compared to MRI and final histology with respect to myometrial invasion of endometrial cancer.
  This study will assess whether 3D ultrasound is accurate at predicting myometrial invasion aqnd lymph node metastasis of endometrial cancer. All patients will receive routine standard of care (MRI). The results of the 3D ultrasound will be compared to the MRI report and final histology.

Detailed description: Aim:
  Assess the diagnostic accuracy of 3D Ultrasound, compared to MRI and final histology with respect to myometrial invasion of endometrial cancer.
  Background:
  When a diagnosis of endometrial cancer is confirmed on biopsy, women get staged to assess the level of spread. Current gold standard is an MRI. A proportion of women, are unable to undergo or complete an MRI scan due to their morbid obesity or claustrophobia. To this end, many have assessed the role of ultrasound in staging endometrial cancer as a cheaper and easier alternative to an MRI. In the last 20 years there has been a rise in the use of 3D ultrasound as it has become commercially available. There is, however a paucity of data on the role of 3D ultrasound in the assessment of myometrial invasion and lymph node metastasis. This research project will assess whether 3D ultrasound is a safe, effective alternative to MRI to assess the depth of spread of womb cancer.
  The study:
  All women with suspected endometrial cancer will receive a pelvic (internal) ultrasound as per routine care. In addition to the normal 2D ultrasound, women will receive a 3D ultasound and images will be saved. This adds an additional 1-2 minutes scan time.
  In those women with confirmed cancer on histology an MRI is performed to assess stage of cancer (current routine standard of care). This will include T1, T2, DWI and contrast enhanced sequences. Patients referred to Hammersmith Hospital from other trusts will also be able to undergo a 3D ultrasound if this was not already performed. Definitive management of endometrial cancer includes a hysterectomy and the surgical specimen will be examined for depth of myometrial invasion and lymph node involved (if removed). In the meantime, the saved 3D ultrasound images will be analysed and rendered to predict the stage of the endometrial cancer and lymph node involvement. The results of 3D ultrasound, and MRI will be compared against the stage found on the gold standard test (on histological examination).

Eligibility: Inclusion Criteria:
  All women presenting to rapid access gynaecology clinic with postmenopausal bleeding or intermenstrual bleeding or referred with a confirmed diagnosis of endometrial cancer.
  Exclusion criteria:
  Anyone lacking capacity. <18years old. Pregnant.

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

Clinical trial: Study of Diagnosis of Color Power Doppler Combined Minimally Invasive Sampling for Endometrial Diseases

Summary: The postmenopausal women with vaginal bleeding were selected in this cross-sectional study. The basic characteristics information and endometrial blood flow energy index of endometrium were detected by color power Doppler ultrasound, and the energy histogram of endometrium was obtained. The specimen of uterine cytology and endometrial tissue were obtained through minimally invasive endometrium sampler, which were diagnosed by pathology. The statistical data were used to detect endometrial and precancerous lesions to observe the endpoint, and to provide the energy histogram model of the early warning endothelial diseases.

Detailed description: The postmenopausal women with vaginal bleeding are selected in this cross-sectional study. The uterine bleeding in patients with blood system diseases, reproductive organ outside the uterus, other organs cancer metastasis to the uterus are excluded. The objects are divided into two groups(patients with endometrial benign diseases and patients with endometrial cancer and precancerous diseases) according to endometrial cytological and histological pathology. The endometrial thickness, basic characteristics information and endometrial blood flow energy index, endometrial vascularization index, blood flow index are detected by color power Doppler and the energy histogram of endometrium is obtained using a Voluson E8 (GE Medical Systems, USA) ultrasound system. Moreover,The specimen of uterine cytology and endometrial tissue are obtained through minimally invasive endometrium sampler, which were diagnosed by pathology.

Eligibility: Inclusion Criteria:
  -  Postmenopausal women with vaginal bleeding
  Exclusion Criteria:
  -  Vaginal bleeding caused by hematological system diseases or genitals outside the uterus
  -  Uterine bleeding caused by other organ cancers metastasize to the uterus

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

Clinical trial: VIrtual REality Glasses for the Enhancement of Acute BRACHYtherapy Tolerance for Endometrial Cancer Patients.

Summary: This randomized phase III multicenter trial aims to evaluate the impact of virtual reality helmets (visual and audio) during VCB in patients treated for endometrial cancer, in terms of pain and anxiety.

Detailed description: Endometrial cancer is one of the most common gynaecological cancers among women in the developed countries. After a curative surgical treatment, many relapses occur in the vaginal cuff. The PORTEC-2 trial has demonstrated a similar reduction in local relapses of intermediate- to high-risk endometrial cancer with vaginal cuff brachytherapy (VCB) than with external beam radiotherapy (EBRT). However, VCB induced less late toxicities. VCB is therefore indicated after surgery for intermediate- to high-risk endometrial cancer. VCB is also recommended after radiation therapy, for patients with stage II or III type 1 endometrial cancers according to the International Federation of Gynaecology and Obstetrics classification (FIGO), and for all patients with histological type 2 endometrial cancers.
  If the late tolerance of VCB is correct, the acute tolerance remains limited, and is mainly characterized by local pain and anxiety) Virtual reality appears to be a promising tool to enhance treatment cancer tolerance, offering a safe and entertaining environment. By the way, the use of virtual reality could limit physical and psychical discomfort induced by VCB.
  This randomized phase III multicenter trial aims to assess the impact of virtual reality helmets (visual and audio) during VCB in patients treated for endometrial cancer, in terms of pain (primary endpoint), and in terms of anxiety (secondary endpoint). Randomization will define which patient will wear a virtual reality helmet. Stratification will be performed according to the following criteria: vaginal molded applicator versus cylinder, two applications versus four; <70 years versus> 70 years.

Eligibility: Inclusion Criteria:
  -  Patients over 18 years old.
  -  Patients with endometrial cancer, with histological type I and II, regardless of the degree of differentiation.
  -  Patients with stage I, II or III endometrial cancer according to the FIGO classification.
  -  Patients treated with high-dose-rate vaginal cuff brachytherapy, with curative intent.
  -  Patients affiliated or entitled to a social security scheme.
  -  Patients who received information about the study and co-signed with the investigator the consent to participate at the study.
  Exclusion Criteria:
  -  Patients with stage IV endometrial cancer according to FIGO classification.
  -  Patients presenting recurrence of endometrial cancer.
  -  Pregnant or nursing women.
  -  Patients under protection of justice or unable to give consent.

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

Clinical trial: Role of Senescence in the Development of Endometrial Cancer

Summary: Several molecular studies showed chromosomal alterations in patients with endometrial cancer, with gains in 1q, 19p, 19q, 8q, 10q and 10p and loss of 4q, 16q and 18q. Several genes of interest have been identified (P53, PTEN, PIK3CA, ß-catenin, K-ras ...).
  A study has already been carried out at the Reims University Hospital with inclusion of patients with endometrial cancer and patients with endometrial hyperplasia. It identified specific alterations of nosologic continuum of pathology and characterize areas of interest on the genome.

Detailed description: make a pangenomic investigation of genetic abnormalities in atypical endometrial hyperplasia and endometrial cancers.

Eligibility: Inclusion Criteria:
  -  patient with endometrial hyperplasia or endometrial cancer
  -  patient consenting to participate to the study
  -  patient enrolled in the national healthcare insurance program
  -  patient older than 18 years
  Exclusion Criteria:
  - patient with neoadjuvant chemotherapy or radiotherapy prior to surgery

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

Clinical trial: Short Course Vaginal Cuff Brachytherapy in Treating Patients With Stage I-II Endometrial Cancer

Summary: This randomized phase III trial studies short course vaginal cuff brachytherapy to see how well it works compared with standard of care vaginal cuff brachytherapy in treating patients with stage I-II endometrial cancer. Short course vaginal cuff brachytherapy, also known as internal radiation therapy, uses (over a shorter period) radioactive material placed directly into or near a tumor in the upper portion of the vagina to kill tumor cells.

Detailed description: PRIMARY OBJECTIVES:
  I. Evaluate the non-inferiority of patient health related quality of life (HRQOL) using the Global Health Score from the Quality of Life Questionnaire Core 30 (QLQ-C30) in the 2 arms one month after treatment.
  SECONDARY OBJECTIVES:
  I. Compare treatment-related symptoms on HRQOL using European Organization for Research and Treatment of Cancer Endometrial Cancer Module (EORTC EN24), question 48 between the two treatment arms.
  II. Compare cost effectiveness between the two treatment arms.
  TERTIARY OBJECTIVES:
  I. Report vaginal, bowel, and bladder symptoms on HRQOL using the EORTC EN24 the two treatment arms.
  II. Evaluate toxicities between the two treatment arms. III. Compare local recurrence and document patterns of recurrence between the two treatment arms.
  OUTLINE: Patients are randomized to 1 of 2 arms.
  ARM I: Patients undergo short course vaginal cuff brachytherapy for 2 fractions with 1 week apart.
  ARM II: Patients undergo standard of care vaginal cuff brachytherapy for 3-5 fractions over no more than 3 weeks.
  After completion of study treatment, patients are followed up at 1, 6, and 12 months.

Eligibility: Inclusion Criteria:
  -  Histologically confirmed endometrial carcinoma: endometrioid type, serous, and clear cell, to include tumors originating in the cervix, but are primarily located in the uterus, and for whom vaginal cuff brachytherapy is indicated. Carcinosarcoma and other sarcomas are permitted; Federation of Gynecology and Obstetrics (FIGO) stage I, with one of the following combinations of stage and grade:
  -  Stage IA, grade 2, 3
  -  Stage IB, grades 1-3
  -  Stage II, grades 1-3
  -  Patients post hysterectomy and free from residual disease
  -  World Health Organization (WHO)/Eastern Cooperative Oncology Group (ECOG)-performance status 0-2
  -  Able to provide informed consent and willing to sign an approved consent form that conforms to federal and institutional guidelines
  Exclusion Criteria:
  -  Stages of endometrial carcinoma other than described
  -  Previous malignancy (except for non-melanomatous skin cancer) < 5 years
  -  Previous pelvic radiotherapy
  -  Interval between the hysterectomy and planned start of radiotherapy exceeding 16 weeks

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

Clinical trial: CPI-006 Alone and in Combination With CPI-444 and With Pembrolizumab for Patients With Advanced Cancers

Summary: This is a phase 1/1b open label, multicenter, dose-selection study of CPI-006, a Type 2 humanized IgG1 antibody inhibiting enzymatic activity of CD73 and adenosine production. This trial will study the safety, tolerability, and anti-tumor activity of CPI-006 as a single agent, in combination with CPI-444, a small molecule targeting the adenosine-A2A receptor on immune cells, and in combination with pembrolizumab, an anti-PD1 antibody against various solid tumors and Non-Hodgkin lymphoma.

Detailed description: This is a phase 1/1b open label, multicenter, dose-selection study of CPI-006, a Type 2 humanized IgG1 antibody inhibiting enzymatic activity of CD73 and adenosine production. This trial will study the safety, tolerability, and anti-tumor activity of CPI-006 as a single agent, in combination with CPI-444, a small molecule targeting the adenosine-A2A receptor on immune cells, and in combination with pembrolizumab, an anti-PD1 antibody against various solid tumors and Non-Hodgkin lymphoma. This trial is composed of dose escalation and dose expansion cohorts.

Eligibility: Inclusion Criteria:
  1. Eastern Cooperative Oncology Group (ECOG) Performance Status 0-1.
  2. Documented incurable cancer with one of the following histologies: nonsmall cell lung cancer, renal cell cancer, triple negative breast cancer, colorectal cancer with microsatellite instability(MSI), bladder cancer, cervical cancer, uterine cancer, sarcoma, endometrial cancer, and metastatic castration resistant prostate cancer.
  3. At least 1 measurable lesion per Response Evaluation Criteria in Solid Tumors (RECIST 1.1).
  4. At least 1 but not more than 5 prior systemic therapies for advanced/ recurrent or progressing disease.
  5. Willingness to provide tumor biopsies.
  Exclusion Criteria
  1. History of severe hypersensitivity reaction to monoclonal antibodies.
  2. Subjects who have received prior therapy with regimens containing cytotoxicT-lymphocyte antigen-4 (CTLA-4), programmed cell death ligand 1 (PDL1), or PD1 antagonists are NOT permitted to enroll unless all adverse events (AEs) while receiving prior immunotherapy have resolved to Grade 1 or baseline prior to screening.
  3. History of (non-infectious) pneumonitis that required steroids or subject has current pneumonitis.
  4. The use of any investigational medication or device in the 30 days prior to screening and throughout the study is prohibited.
  5. Symptomatic, untreated, or actively progressing central nervous system (CNS) metastases.

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

Clinical trial: PORTEC-4a: Molecular Profile-based Versus Standard Adjuvant Radiotherapy in Endometrial Cancer

Summary: This is prospective, multicenter, randomised phase III trial among women with endometrial cancer with high-intermediate risk features to investigate the role of an integrated clinicopathological and molecular risk profile to determine if participants should receive no adjuvant therapy, vaginal brachytherapy or external beam radiotherapy based on a favourable, intermediate or unfavourable profile as compared to standard adjuvant vaginal brachytherapy.

Detailed description: Adjuvant therapy for women with endometrial cancer has increasingly been tailored to prognostic factors to prevent overtreatment and select those women for adjuvant treatment who will have a clinically relevant reduction of the risk of relapse by the adjuvant treatment. Risk profiles have traditionally been based on clinicopathological factors such as age, stage, grade, LVSI and depth of invasion. Newer, both molecular-genetic (the cancer genome atlas subgroups) or immunohistochemistry-based (L1-CAM) risk factors have become available which are strongly related to outcomes and risk of cancer spread. In a comprehensive analysis of the PORTEC-1 and-2 biobank an integrated clinicopathological and molecular risk profile was determined which separated the current high-intermediate risk group of endometrial cancer in 3 separate groups (favourable, intermediate or unfavourable) with clearly separated outcomes, which is now prospectively tested in the clinic to determine adjuvant treatment. This is the first randomised trial using the molecular risk factors to assign adjuvant treatment for women with stage I-II high-intermediate risk endometrial cancer.

Eligibility: Inclusion Criteria:
  -  Histologically confirmed endometrioid type endometrial carcinoma, International Federation of Gynecology and Obstetrics (FIGO) 2009 stage I, with one of the following combinations of stage, grade, age, and lymph-vascular space invasion (LVSI):
  1. Stage IA, grade 3 (any age, with or without LVSI)
  2. Stage IB, grade 1 or 2 and age >60 years
  3. Stage IB, grade 1-2 with documented LVSI
  4. Stage IB, grade 3 without LVSI
  5. Stage II (microscopic), grade 1
  -  World Health Organization (WHO)-performance status 0-2
  -  Written informed consent
  Exclusion Criteria:
  -  Any other stage and type of endometrial carcinoma
  -  Histological types serous carcinoma or clear cell carcinoma (at least 10% if mixed type), or undifferentiated or neuroendocrine carcinoma
  -  Uterine sarcoma (including carcinosarcoma)
  -  Previous malignancy (except for non-melanomatous skin cancer) < 5 yrs
  -  Previous pelvic radiotherapy
  -  Interval between the operation and start of radiotherapy exceeding 8 weeks

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

Clinical trial: Detection of Plasmatic Cell-free BRAF and NRAS Mutations : a New Tool for Monitoring Patients With Metastatic Malignant Melanoma Treated With Targeted Therapies or Immunotherapy ( MALT )

Summary: The main objective of this project is to perform a longitudinal monitoring of BRAF and NRAS cell-free DNA in a large cohort of metastatic melanomas patients before treatment and during the follow-up. Results will be compared with clinical data as imaging (based on RECIST criteria) and the activity of lactate dehydrogenase in serum (LDH).

Detailed description: During a consultation of follow-up for an advanced malignant melanoma (stage IIIb or IIIC or IV), an investigator presents the study to the patient and give him the note of information and the informed consent.
  The patient can benefit from a reflexion period of of 7 days.
  In case of agreement, a first blood draw will take place before initiation of any treatment. Between D15 and D30 a second blood draw will be taken. Then a blood draw will be necessary every two months until recurrence or progression of the disease for a maximum of 22 months.

Eligibility: Inclusion Criteria:
  -  Patients in metastatic situation for a malignant melanoma inoperable stage IIIB or IIIC or stage IV
  -  In first line of treatment by a targeted therapy (only or in association) or immunotherapy
  -  Every histological types of cutaneous or mucous malignant melanoma (excepted choroid melanomas)
  -  The tumor must be mutates for BRAF or NRAS
  -  The mutation status must have been realized in the Laboratory Pathology Clinical and Experimental (LPCE) of the CHU de Nice analysis of the status on-site metastatic mutational and/or primitive tumor must
  -  Membership or beneficiary of the national insurance scheme
  Exclusion Criteria:
  -  Histories of cancer or other synchronous cancer
  -  Pregnant, breast-feeding Women. A pregnancy test will be practiced to the women old enough to procreate.
  -  Vulnerable People: adults under guardianship, patients deprived of freedom, minor

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

Clinical trial: Assessment of Memory in Children With Kabuki Syndrom

Summary: Mnesic function has not, at present, been evaluated in patients with Kabuki Syndrome. Some data from the neuroimagery suggest an impairment of memory function. The objective of our study is to assess the mnesic function of children with Kabuki Syndrom.

Detailed description: Kabuki Syndrome (SK - OMIM 147920 and 300867 ORPHA: 2322) is a rare genetic disease with a prevalence of approximately 1/32 000 and responsible for a malformation syndrome with mild to moderate intellectual impairment. SK is due to mutations in the KMT2D and KDM6A genes. As part of a national PHRC (AOM 07-090, clinicaltrial NCT01314534, The investigators were able to perform psychometric tests type WISC4 and MRI type VBM). Disability in SK is characterized by a heterogeneous cognitive profile with strengths and weaknesses when calculating IQ. Brain MRI reveals small hippocampi compared to controls. These 2 data are partly contradictory because the strengths of the patients with SK are a working memory and a verbal comprehension index high compared to the other indices of the tests WISC-IV.
  The objective of the research is to better understand the mnesic function of children with SK.
  25 children aged 6 to 16 will be recruited. The diagnosis of SK will have been authenticated by the demonstration of a mutation in the KMT2D or KDM6A gene.
  The memory assessments will be conducted in one visit for each child, who will perform a memory assessment with a neuropsychologist, using the CMS scale.

Eligibility: Inclusion Criteria:
  -  Child from 6 to 16 years old
  -  Presents an already established diagnosis of Kabuki syndrome.
  -  Free, informed and written consent signed by the participant's parents, and the investigator (at the latest inclusion day and before any research required by the research).
  Exclusion Criteria:
  -  Be under 6 years old or over 16 years old
  -  Do not master the French language
  -  Not having access to language
  -  Deafness not paired
  -  Blindness.

Relevance to patient case: not relevant