araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Gut Microbiome & Gastrointestinal Toxicities as Determinants of Response to Neoadjuvant Chemo for Advanced Breast Cancer

Summary: The purpose of this research is to test whether bacteria that normally live in the intestines play a role in fighting cancer. It is believed that the development and behavior of these immune cells may be influenced by bacteria and other microorganisms living in the gut. In turn, the activities of these immune cells could work with anti-cancer therapies to make them more, or less, effective.

Detailed description: Many chemotherapeutic agents compromise the integrity of the mucosal barrier in the gut, allowing translocation of gram-positive bacteria in secondary lymphoid organs. While this has, until recently, been considered an undesirable side-effect, it may also represent one mechanism by which chemotherapy stimulates an effective anti-cancer immune response. The purpose of this research is to test whether bacteria that normally live in the intestines play a role in fighting cancer. It is believed that the development and behavior of these immune cells may be influenced by bacteria and other microorganisms living in the gut. In turn, the activities of these immune cells could work with anti-cancer therapies to make them more, or less, effective. The hypothesis is that gut microbial composition can influence immune response to the tumor, resulting in inter-individual differences in the response to anti-cancer therapies.

Eligibility: Inclusion Criteria:
  -  Diagnosed with invasive breast cancer and prescribed a regimen that includes neo-adjuvant therapy prior to breast surgery.
  -  Able to provide informed consent.
  Exclusion Criteria:
  -  History of previous malignancy, other than non-melanoma skin cancers
  -  Inability to tolerate phlebotomy
  -  Immunosuppressive therapy for any other condition
  -  Fever or active uncontrolled infection in the last 4 weeks
  -  Inflammatory bowel disease
  -  Surgery of the stomach, small or large intestines, appendectomy, gastric bypass or gastric banding in the past 6 months.
  -  Active autoimmune disease, including, but not limited to, Systemic lupus erythematosus (SLE), Multiple sclerosis (MS), ankylosing spondylitis

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Evaluation of a Kit for the Prediction of the Risk of Graft Versus Host Disease

Summary: This study is a proof of concept that will assess the Predictor's kit performances. The test will be performed by several technicians, in immunological laboratories of several sites in France.
  In this study, "couples" of donor / recipient in the frame of a graft of CSH will be included.

Detailed description: The Hematopoietic Stem Cell (HSC) graft is the only curative treatment for lots of hematologic diseases, malignant or not, particularly leukemias.
  The acute Graft versus Host (aGvH) reaction is the most frequent complication, and could concern until 50% of recipients. It is mainly linked to immune characteristics of the donor which will act versus the graft recipient.
  There is a huge need of a technology that could predict the risk of aGvH, especially in order to select a donor in case of several possibilities, in order to reduce morbidity and mortality of graft.
  The Predictor' kit allows to predict acute and severe forms of Graft versus Host disease before the graft of peripheral hematological stem cells, by the assesment of iNKT cells expansion.

Eligibility: Main inclusion Criteria for Donors :
  -  Being a relative of the recipient patient, OR being registered on the National Registry of the volunteers for bone marrow donation
  -  Being candidate for a donation of Hematologic Stem Cells with a HLA compatibility 10/10
  Main inclusion Criteria for Recipient :
  -  Being candidate for a donation of Hematologic Stem Cells with the following criteria:
  -  HLA compatibility 10/10 with the donor
  -  Suffering from malignant or non-malignant hemopathy in first remission
  -  Myeloablative or reducted intensity conditioning
  -  Classic scheme of immunosuppression decreasing
  Main exclusion Criteria:
  -  Participation to a therapeutical protocol in the 30 last days

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: A Study to Evaluate the Efficacy of Venetoclax in Relapsed/Refractory Participants With Chronic Lymphocytic Leukemia (CLL) Including Those With 17p Deletion or TP53 Mutation or Those Who Have Received a Prior B-cell Receptor Inhibitor.

Summary: The purpose of this open-label, single-arm study is to evaluate the efficacy of venetoclax monotherapy in approximately 250 participants with relapsed/refractory CLL including those with the 17p deletion or TP53 mutation (assessed by local lab) OR those who have received prior treatment with a B-cell receptor inhibitor. The starting dose of venetoclax is 20 mg once daily. The dose must be gradually increased over a period of 5 weeks up to the daily dose of 400 mg. Participants may continue receiving venetoclax for up to 2 years. After the treatment period, participants may continue on into a 2-year follow-up period.


Eligibility: Inclusion Criteria:
  -  Participant has Eastern Cooperative Oncology Group (ECOG) performance score of less than or equal to 2
  -  Participant has relapsed/refractory disease (received at least 1 prior therapy)
  -  Participant has diagnosis of CLL that meets published 2008 Modified IWCLL NCI-WG Guidelines and:
  -  has an indication for treatment according to the 2008 Modified IWCLL NCI-WG criteria
  -  has clinically measurable disease (lymphocytosis greater than 5 × 109/L and/or palpable and measurable nodes by physical exam and/or organomegaly assessed by physical exam)
  -  In addition, participants:
  -  with or without 17p deletion or TP53 mutation, assessed by a local laboratory in bone marrow or peripheral blood AND/OR
  -  may have been previously treated with a prior B-cell receptor inhibitor
  -  Participant must have adequate bone marrow function, coagulation profile, renal, and hepatic function, per laboratory reference range at Screening
  Exclusion Criteria:
  -  Participant has developed Richter's transformation or Prolymphocytic leukemia
  -  Participant has previously received venetoclax
  -  History of active malignancies other than CLL within the past 2 years prior to first dose of venetoclax, with the exception of:
  -  adequately treated in situ carcinoma of the cervix uteri
  -  adequately treated basal cell carcinoma or localized squamous cell carcinoma of the skin
  -  previous malignancy confined and surgically resected (or treated with other modalities) with curative intent
  -  Participant has active and uncontrolled autoimmune cytopenias (for 2 weeks prior to Screening), including autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura despite low dose corticosteroids
  -  Participant has undergone an allogeneic stem cell transplant grade 2:
  -  Any anti-cancer therapy including chemotherapy, or radiotherapy;
  -  Investigational therapy, including targeted small molecule agents
  -  Participant is human immunodeficiency virus (HIV) positive
  -  Participant has known allergy to both xanthine oxidase inhibitors and rasburicase

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: A Clinical Trial Evaluating the Efficacy and Safety of Dasatinib in Refractory Metastatic GIST

Summary: The purpose of this study is to determine whether dasatinib is effective and safe in the treatment of refractory metastatic gastrointestinal stromal tumor


Eligibility: Inclusion Criteria:
  -  Histologically confirmed recurrent/metastatic gastrointestinal stromal tumor (GIST). Immunohistochemically, the detection KIT and/or DOG-1 are/is positive
  -  Patients must have measurable disease meeting the requirement of RECIST 1.1
  -  Received the gene mutation detection of c - kit/PDGFRA
  -  Subjects with mutation in exon 11, in exon 9 and wild type c-kit/PDGFRA have failed to imatinib and sunitinib
  -  Subjects with primary mutation in exon 17 or 18 have failed to imatinib
  -  Subjects with primary mutation in exon 11 and secondary mutation in exon 17 or 18 have failed to imatinib
  -  Subjects with mutation in exon 18 of PDGFRA,have received TKI or not
  -  Eastern Cooperative Oncology Group (ECOG) performance status = 0-2
  -  Expected OS ≥3 months
  -  Ability to understand and the willingness to sign a written informed consent document
  -  Subject will comply with the study procedures and therapy
  Exclusion Criteria:
  -  Local or metastatic GIST is resectable
  -  Unable to receive the gene mutation detection of c-kit (c-kitproto-oncogeneprotein)/PDGFRA
  -  AST and/or ALT > 2.5 times ULN, or Bilirubin >1.5 times upper limit of normal (ULN)
  -  Neutrophil count < 1.5 x 10^9/L, or Platelet count <75 x 10^9/L, or Hemoglobin<90g/L
  -  Cr >1.5×ULN
  -  Other malignancy within the past 5 years except for adequately treated carcinoma in situ of the cervix or cutaneous basal cell carcinoma
  -  Known brain metastasis, spinal cord compression, carcinomatous meningitis, or cerebral or soft meningeal disease through CT or MRI during screening stage
  -  Within the past 5 years, subjects have one of the following disease: myocardial infarction, serious/instable angina pectoris, symptomatic congestive heart failure or cerebrovascular accident from coronary/peripheral artery bypass grafting
  -  Known human immunodeficiency virus positivity
  -  Joining in other trail
  -  Women who are pregnant or lactating; No contraception for subject during childbearing period
  -  Subject with other serious acute and chronic physical or mental problems, or laboratory abnormality, will increase the risks associated with trail or drug. It will also interference the judgment of the results. In the judgment of the investigator, subject is inadequate to participant the study

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: SEAL Registry - European Registry for the Effectiveness of LifeSeal® Kit

Summary: This study will assess the effectiveness of commercially available LifeSeal® Kit as measured by the incidence of post-operative clinical anastomotic leak rates in subjects undergoing low and ultralow anterior resection with an anastomosis. All patients treated with LifeSeal® will be offered to participate

Detailed description: The LifeSeal® Kit is a novel surgical sealant intended to be used as an adjunct to suture or staple line during standard surgical repair of the GI tract (anastomosis or linear) to provide re-inforcement and help reduce leaks. The LifeSeal™ Kit has recently been CE certified on March 2016 for marketing in the European Union.

Eligibility: Inclusion Criteria:
  1. ≥ 18 years of age at screening visit
  2. Written informed consent obtained
  3. Subject is scheduled to have or already underwent elective open, laparoscopic or robot assisted surgery involving the creation of a coloanal or colorectal anastomosis* created within 15 cm from the anal verge.
  4. Subject was already treated or is scheduled to be treated with LifeSeal® Kit, applied according to the IFU
  Exclusion Criteria:
  1. Subject with American Society of Anesthesiology (ASA) status > 3.

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: A Study of PLX3397 in Patients With Unresectable or Metastatic KIT-mutated Melanoma

Summary: The purpose of this Phase I/II study is to evaluate safety, pharmacokinetics, and preliminary efficacy of the investigational drug PLX3397 in subjects with unresectable or metastatic KIT-mutated melanoma.


Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years
  -  Unresectable stage III or stage IV melanoma which is histologically confirmed at the treating institution with KIT mutation(s) not known to be resistant to PLX3397
  -  Presence of measurable lesions by Response Evaluation Criteria in Solid Tumors
  -  Eastern Cooperative Oncology Group (ECOG) performance Status (PS) 0-2
  -  Life expectancy ≥ 3 months
  -  Adequate organ and bone marrow function
  -  Women of child-bearing potential must have a negative serum pregnancy test at Screening and must agree to use an effective form of contraception from the time of the negative pregnancy test up to 3 months after the last dose of study drug. Women of non-child-bearing potential must have been postmenopausal for ≥ 1 year or surgically sterile.
  -  Fertile men must agree to use an effective method of birth control during the study and for up to 3 months after the last dose of study drug.
  -  Willingness and ability to provide written informed consent prior to any study-related procedures and to comply with all study requirements
  Exclusion Criteria:
  -  Prior treatment with a KIT inhibitor for melanoma
  -  Presence of NRAS or BRAF mutation
  -  Exposure to any investigational drug within 28 days or unresolved adverse effects from previous therapy
  -  Symptomatic brain metastases.
  -  Active secondary malignancy unless the malignancy is not expected to interfere with the evaluation of safety and is approved by the Sponsor
  -  Concomitant treatment with other anti-neoplastic agents (hormonal therapy acceptable)
  -  Uncontrolled intercurrent or infectious illness
  -  Major surgical procedure or significant traumatic injury within 14 days of initiating study drug or anticipation of the need for major surgery during the study
  -  Previous radiotherapy to 25% or more of the bone marrow and/or radiation therapy within 28 days prior to study entry
  -  Inability to swallow capsules, or refractory nausea and vomiting, malabsorption, an external biliary shunt, or significant bowel resection that would preclude adequate absorption
  -  Congestive heart failure (CHF) New York (NY) Heart Association class III or IV; unstable coronary artery disease [myocardial infarction (MI) more than 6 months prior to study entry is permitted] or serious cardiac arrhythmia
  -  Baseline QT interval corrected using Fredericia equation (QTcF) ≥ 450 msec (for males) or ≥ 470 msec (for females) at Screening
  -  Active or chronic infection with human immunodeficiency virus (HIV), hepatitis C virus (HCV), or hepatitis B virus (HBV)
  -  Known chronic liver disease
  -  Women who are breast-feeding or pregnant

Relevance to patient case: possibly relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: A Clinical Trial Evaluating the Efficacy of Resultz Lice and Egg Elimination Kit on Pediatric and Adult Subjects

Summary: A one day study to demonstrate that Resultz Lice and Egg Elimination Kit is statistically superior to a sham control with one hour of combing.

Detailed description: Resultz Lice and Egg Elimination Kit will be efficacious in the removal of human head lice infestations in children and adult subjects under simulated real world conditions.

Eligibility: Inclusion Criteria:
  -  Must have active head lice infestations (at least 1 live louse and eggs)
  -  Good general health based on medical history
  -  Each subject has to be consented
  Exclusion Criteria:
  -  Subjects with any condition that would compromise the study
  -  History of irritation or sensitivity to pediculicides or hair care products
  -  Subjects with cranial or facial implants
  -  Subjects who have received radiation within the last 6 months
  -  Subjects with history of heart disease
  -  Subjects with history of epilepsy or seizure disorders
  -  Subjects with neuro-stimulator or pacemaker
  -  Subject with hair that staff cannot comb
  -  Subject previously treated in study in last 30 days
  -  Use of lice treatment in past 2 weeks
  -  Subject unable to sense pain
  -  Subject unable to communicate pain

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Epidemiology and Acute Oral Effects Electronic Cigarette

Summary: Electronic cigarettes are battery-powered vaporizers which have a similar feel to tobacco smoking. They do not produce cigarette smoke but rather an aerosol, which is frequently referred to as vapor. E-cigarettes are marketed as less harmful alternatives to smoking. Use and awareness of these devices has grown exponentially in recent years, with millions of people currently using them.
  The benefits and risks of electronic cigarette use are uncertain. There is no research on the acute oral effects of electronic cigarette in the scientific literature and no hungarian epidemiological survey has been performed in this topic.
  Regulation of electronic cigarettes varies across countries in the European Union, ranging from no regulation to banning them entirely.
  The investigators research could help to integrate the regulation of this device in Hungary and in the EU as well.
  The measurement of acute oral effects of e-cigarette and a hungarian epidemiological survey would be novel in this topic.

Detailed description: The epidemiological survey is performed with online questionnaires, which are published on e-cigarette-selling websites and on other forums dealing with this topic.
  The main outcome of interest was whether or not e-cigarette use helped people to quit smoking or reduce the number of conventional cigarettes. Participants were also asked about the reason for starting e-cigarette use. Nationality, habitation, citizenship status were included as demographic predictors in analyses.
  Measurements of acute oral effects before and after using electronic cigarette with nicotine, without nicotine, conventional cigarette and placebo device:
  -  measurement of exhaled CO changes by Smokerlyzer piCO
  -  measurement of saliva MMP-8 by PerioSafe Home
  -  measurement of saliva pH, buffering capacity, and flow rate changes by Saliva Check Buffer Kit (GC)
  -  measurement of oral mucosal blood flow changes by Perilam PSI System High Resolution (LASCA method)

Eligibility: Inclusion Criteria:
  -  age: 19-49 years
  -  signed consent form
  -  smoking regularly e-cigarette and/or conventional cigarette for > half year
  Exclusion Criteria:
  -  not pregnant and not planning pregnancy in the next 6 month
  -  BMI index < 30
  -  no severe parodontal disease
  -  no acute illness in the last 2 weeks
  -  no chronic disease (eg.: diabetes)
  -  no diet which can influence the oral pH

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: The p53 Colorectal Cancer Trial

Summary: Single center, open labeled, phase 2 clinical trial, where patients with metastatic colorectal cancer are selected for treatment with dose dense Cyclophosphamide every second week based on TP53 mutation status; i.e. only patients with TP53 mutated tumors may be included in the treatment arm.


Eligibility: Inclusion Criteria:
  -  Metastatic colorectal cancer patients for whom conventional therapy has failed; defined as 2 lines of chemotherapy including oxaliplatin or irinotecan- containing regimens as well as an EGFR inhibitor if applicable.
  -  Tumor lesion suitable for biopsy
  -  Age >18 years
  -  Clinically or radiologically measurable tumor deposits according to the RECIST criteria
  -  WHO performance status 0-1
  -  Radiology studies (CT thorax/abdomen/pelvis) and echo cor and ECG must be performed within 28 days prior to registration.
  -  Before patient registration in the trial, written informed consent must be given according to national and local regulations.
  -  Blood test requirements:
  Neutrophils > 1.0 e9/L Platelets > 75 e9/L Bilirubin < 20 µmol / L. Serum creatinine < 1.5 x ULN
  Exclusion Criteria:
  -  Co-morbidity including, but not limited to, impaired renal-, liver or bone marrow function, that based on the assessment of the treating physician, may preclude the use of cyclophosphamide at actual doses.
  -  Known hypersensitivity to the study drug, its metabolites or any excipients in the infusion solution.
  -  Psychological, familial, sociological or geographical condition(s) potentially hampering compliance with the study protocol and follow-up schedule; those conditions should be discussed with the patient before registration in the trial
  -  Pregnant or lactating patients cannot be included.
  -  Clinical evidence of serious coagulopathy. Prior arterial/venous thrombosis or embolism does not exclude patients from inclusion, unless patient is considered unfit by study oncologist.
  -  Patient not able to give an informed consent or comply with study regulations as deemed by study investigator.

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Molecular Characterization of Primary Mucosal Melanoma

Summary: Primary mucosal melanomas (MPM) are rarer than cutaneous melanomas, but also more severe. They are usually refractory to conventional approaches, regularly excluded from major therapeutic programs and not sensitive to new targeted therapies orphans. " The identification of therapeutic targets and accessibility to existing, developing or future targeted therapies improves the survival of patients with MPM.
  The principal goal is to describe, using a large panel of genes, the prevalence of major mutations in a cohort of MPMs based on the population of a French region.


Eligibility: Inclusion criteria:
  -  Incident Mucosal melanoma in the Champagne-Ardenne region 2004-2014
  Exclusion criteria:
  -  Cutaneous melanoma
  -  Uveal melanoma

Relevance to patient case: not relevant