araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Determination of RAS Mutation Status in Liquid Biopsies in Subjects With RAS Wild-type.PERSEIDA Study

Summary: Analysis of freely circulating DNA in liquid biopsies using the BEAMing method

Detailed description: Analysis of freely circulating DNA in liquid biopsies using the BEAMing method is proposed as a technique that may be useful for analysing the RAS mutation status in different types of cancer. However, first it is necessary to evaluate the concordance between the results obtained in tumour samples and liquid biopsies.
  Primary objective
  • To evaluate the RAS mutation status at baseline in liquid biopsies in subjects with RAS wild-type metastatic colorectal cancer.
  Secondary objectives
  -  To evaluate the appearance of new RAS mutations using liquid biopsies at the moment of disease progression.
  -  To evaluate the appearance of new RAS mutations using liquid biopsies prior to radiological documentation of disease progression.

Eligibility: Inclusion criteria:
  -  Subjects who give their informed consent in writing
  -  Subjects with metastatic colorectal cancer, measurable by RECIST, who start first-line treatment
  -  Male and female subjects, at least 18 years of age and of any ethnicity
  -  Subjects with a histologically-confirmed diagnosis of colorectal carcinoma with metastatic disease and wild-type RAS.
  Exclusion criteria:
  -  Pregnant or breastfeeding women
  -  Subjects who have previously received monoclonal antibodies against EGFR (cetuximab or panitumumab), small-molecule EGFR inhibitors (such as erlotinib) or other biological cancer treatments
  -  History of another solid or haematological tumour in the previous 5 years, except a history of basal cell carcinoma of the skin or pre-invasive cervical cancer
  -  Subjects who are participating or have participated in a clinical trial in the 30 days prior to inclusion.

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Molecular Characterization of Advanced Stage Melanoma by Blood Sampling

Summary: Analysis of somatic mutations in tumors is currently indicated for daily practice in all metastatic melanoma. Actually, this research is limited to the mutation of three biomarkers validated by the l'Institut National du CAncer (INCA): BRAF, NRAS and CKIT. Moreover, in some cases it requires invasive biopsies.
  In this context, molecular characterization of a tumor material flowing (circulating tumor DNA and / or circulating tumor cells) could afford to benefit patients in the best conditions of current targeted therapies and future.

Detailed description: The main objective of this study will be to define the diagnostic sensitivity of a panel of biomarker on the circulating tumor DNA from peripheral blood.
  The secondary objectives of this study will be:
  -  Study the concordance between mutations in circulating tumor DNA and mutations in tumor tissue - Study the associations between mutational profiles and clinical and histological features of melanoma.
  -  Study the prognostic impact on survival of the identified genetic profile from the circulating tumor DNA

Eligibility: Inclusion Criteria:
  -  patient with melanoma confirmed histologically
  -  patient with metastatic melanoma (stage III unresectable or stage IV)
  -  patient consenting to participate to the study
  -  patient enrolled in the national healthcare insurance program
  -  patient older than 18 years
  Exclusion Criteria:
  - Metastatic tumor whose origin is doubtful (uncertain melanoma)

Relevance to patient case: definitely relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Clinical and Histological Features of Head and Neck Melanoma

Summary: The worldwide incidence of cutaneous melanoma has been increasing for the last 30 years in western populations. Among all melanomas, those located on the head and neck are more frequent than expected regarding the surface of this anatomical area, occur in older subjects than melanomas at other sites and have a worse prognosis than melanomas at other sites. The question whether head and neck melanomas could be a distinct entity has been debated.

Detailed description: Aim of the study was to compare clinical and histological characteristics between head and neck melanomas and melanomas at other sites.

Eligibility: Inclusion Criteria:
  -  patients with melanoma
  -  melanoma diagnosed between January 2004 and December 2011
  -  patients living in Champagne-Ardenne

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: A Phase Ib Study of LXH254-centric Combinations in NSCLC or Melanoma

Summary: To characterize safety and tolerability and identify a recommended dose and regimen for the LXH254 in combination with LTT462 or trametinib or ribociclib.


Eligibility: Inclusion Criteria:
  -  Patients must have advanced or metastatic NSCLC or melanoma
  -  Presence of KRAS or BRAF mutation (NSCLC) or NRAS mutation (melanoma) in tumor tissue
  -  All patients participating in this clinical trial must have progressed following standard therapy or, in the opinion of the Investigator, no effective standard therapy exists, is tolerated, appropriate or is considered equivalent to study treatment.
  -  ECOG (Eastern Cooperative Oncology Group) performance status ≤ 2
  Exclusion Criteria:
  -  Dose expansion - KRAS or NRAS mutant patients groups: Prior treatment with a RAFi (including any BRAFi and pan-RAFi), MEKi and/or ERKi. BRAF mutant patients group: Prior treatment with an ERKi and/or a pan-RAFi.
  -  History or current evidence of retinal vein occlusion (RVO) or current risk factors for RVO.
  -  Any medical condition that would, in the investigator's judgment, prevent the patient's participation in the clinical study due to safety concerns or compliance with clinical study procedures.
  -  Patients receiving proton pump inhibitors (PPI) which cannot be discontinued 3 days prior to the start study treatment and for the duration of the study.
  -  Patients with Gilbert's syndrome or other heritable diseases of bile processing.
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: definitely relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

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: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Study in Subjects With Small Primary Choroidal Melanoma

Summary: The primary objective is to assess the safety, immunogenicity and efficacy of one of three dose levels and repeat dose regimens of Light-activated AU-011 and one or two laser applications for the treatment of subjects with primary choroidal melanoma.

Detailed description: This is a phase 1B/2 open-label, ascending single and repeat dose clinical trial designed to evaluate the safety and efficacy of Light-activated AU-011 for the treatment of subjects with small primary choroidal melanoma.
  Throughout the study, subjects will be monitored through medical and ophthalmic assessments. Subjects will be followed for a total of 2 years.

Eligibility: Inclusion Criteria:
  -  Diagnosis of choroidal melanoma
  Exclusion Criteria:
  -  Have known contraindications or sensitivities to the study drug

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: DUSA: Cyclic PDT for the Prevention of AK & NMSC in Solid Organ Transplant Recipients

Summary: This is a pilot, phase 2, prospective, comparative study to evaluate the safety and efficacy of the combination of Levulan® Kerastick® for Topical Solution and blue light illumination using the BLU-U® Blue Light Photodynamic Therapy Illuminator (LevulanPDT).
  The study hypothesis is that post solid organ transplantation patients, highly susceptible to non-melanoma skin cancer, can be treated safely and effectively through clinical cyclic application of PDT, lessening morbidity and possible mortality for this immunosuppressed patient population.


Eligibility: Inclusion Criteria:
  -  Received solid organ transplant
  -  3-24 months post-transplant (any number of transplant)
  -  Time interval of at least 6 days duration where complications such as rejection episodes, viral infections, surgical interventions and therapies with mono or polyclonal antibodies are ruled out by the transplant team.
  -  No prior history of NMSC in the treatment fields
  -  No AK/Bowen's disease in the treatment fields within the last 3 months.
  -  Moderate to severe sun damage
  -  Be willing to forego other interventions in the treatment fields than the ones approved by the investigator that would interfere with the protocol or evaluation of the study medication
  Exclusion Criteria:
  -  Patients with Fitzpatrick's scale skin type IV-VI
  -  Cutaneous photosensitivity to wavelengths of 400-450 nm, porphyria or known allergies to porphyrins
  -  Known sensitivity to any of the components of the Levulan® Kerastick® for Topical Solution
  -  Prior use of topical or systemic therapies that might interfere with the evaluation of the study medication during the study, within a 3 month washout period from the time of the screening visit
  -  Unable to return for follow-up visits and tests
  -  Any condition or situation which in the Investigator's opinion may put the subject at significant risk, could confound the study results, or could interfere significantly with the subject's participation in the study

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: A Study of Adult Participants With BRAF V600 Mutation-Positive Advanced Melanoma Treated With Cobimetinib (Cotellic®) During the French Early Access Program (Temporary Authorization for Use [TAU])

Summary: This is a multicentre, ambispective (both retrospective and prospective), and non-interventional study conducted in France in adult participants with BRAF V600 mutation-positive unresectable or metastatic melanoma treated with cobimetinib in combination with vemurafenib (Zelboraf®).

Detailed description: Concomitantly to the marketing authorization applications for cobimetinib and vemurafenib to European Medicines Agency (EMA) and United States Food and Drug Administration (USFDA) in 2014, a French TAU program was initiated in February 2015. This study will enroll participants under this program.

Eligibility: Inclusion Criteria:
  -  Participants included in the TAU from 26 February 2015
  -  Participants with BRAF V600 mutation-positive unresectable or metastatic melanoma treated with cobimetinib in combination with vemurafenib
  -  For alive participants: participants who have been informed verbally and in writing about this study who do not object to their data being electronically processed or subjected to data quality control
  -  For participants who died before the inclusion period: participants who did not express their opposition when they were alive
  Exclusion Criteria:
  - Alive participants unable to give informed consent

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Optimization of Individualized Therapy for CRCs With Secondary RESISTance Towards Anti-EGFR Targeted Therapy Using an Avatar Model

Summary: In this exploratory phase II trial, the possibility of a personalized treatment after resistance to cetuximab will be evaluated. Therefore, tumor material of all patients shall be obtained, transferred into avatars and treated the same way as in the patient until resistance arises. These resistant tumor cells are subsequently treated by different targeted treatment combinations in the mouse avatar model to find the most active drug or combination of drugs. This drug or combination of drugs may then be offered to the patient after cetuximab resistance has occurred. Multiple liquid biopsies shall be obtained in patients during first‐line treatment with cetuximab as well as during second line experimental treatment to monitor mutations that may be associated with cetuximab resistance. Furthermore at the time of resistance a biopsy should be taken and analyzed to ensure that the mechanism of resistance seen in the avatar model matches with the mechanism of resistance in the individual patient.


Eligibility: Inclusion Criteria:
  -  Male and female patients age ≥ 18 years
  -  Written declaration of consent
  -  ECOG Performance Status 0-1
  -  Life expectancy> 3 months
  -  Histologically confirmed adenocarcinoma of the colon or rectum at stage UICC III or UICC IV
  -  Histologically confirmed adenocarcinoma of the colon or rectum in stage UICC II with one of the following risk factors: CEA> 200; T4 tumor, emergency surgery, <12 distant lymph nodes, surgery due to intestinal obstruction (ileus)
  -  Patient agrees to the preservation of tumor material for the purpose of molecular analyzes including the determination of the genetic profile of the tumor (participation in the project "RESIST")
  Exclusion Criteria:
  -  Preoperative Radiotherapy
  -  Preoperative chemotherapy
  -  Heart failure> Grade II (functional NYHA classification)
  -  Existing concomitant disease or condition that would make the patient unsuitable for a study participation or interfere with the safety of the subject
  -  Any psychological, familial, sociological or geographical event which does not allow observance of the study protocol
  -  Additional carcinoma therapy (chemotherapy, radiation, biological therapy, immunotherapy or hormonal therapy) during the study
  -  Known malignant second neoplasia within the last 5 years (except for a basal cell carcinoma or a carcinoma in situ of the uterine cervix).

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: The Impact of Melanoma and Drug Treatment in the Real World

Summary: An observational, non-interventional registry study to collect real-world data from people living with melanoma and its treatment, which will be available to researchers to further the knowledge of melanoma and improve patient care.

Detailed description: The registry uses Vitaccess' MyRealWorld(tm) digital real-world evidence platform, and has been developed in collaboration with the patient advocacy group Melanoma UK.
  Eligible participants install a study app on their smartphone or tablet. Researchers access aggregated, anonymised data via a cloud-based research portal.
  The platform provides benefits to participants, which it is hoped will encourage persistence with data submission; these include options to upload electronic documents such as scans, and access an online melanoma community.
  The aggregated data are available in close to real time via "dashboards" and can be analysed according to a number of pre-set criteria (e.g. disease stage, age, geographic location).
  State-of-the-art technologies and security policies are used in the platform to ensure industry-standard data storage and privacy for all users. Participants' personally identifiable information will remain confidential at all times, and researchers will not be able to identify individuals.

Eligibility: Inclusion Criteria:
  -  adults with melanoma of any stage, resident in the UK with National Health Service (NHS) or Community Health Index (CHI) number, aged 18 and over, current or previous diagnosis of melanoma, willing to use their own smartphone or tablet.
  Exclusion Criteria:
  -  no specific exclusion criteria

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

Clinical trial: Melanoma Accuracy Study; Phase 2

Summary: The purpose of this study is to evaluate the process, accuracy and patient outcomes of pre-screening dermatology referrals in a clinical setting by a qualified nurse. The long-range goal of the proposed program is to improve referral wait times for patients to see a dermatologist for lesions suspicious for melanoma in comparison to normal standards of care in NS. If effective, this screening program would decrease wait times for those patients with lesions suspicious for melanoma providing earlier diagnosis and expedited treatment, and potentially reducing mortality rates.

Detailed description: The purpose of this study is to evaluate the process, accuracy and patient outcomes of pre-screening dermatology referrals in a clinical setting by a qualified nurse using a dermatoscope, triaging suspicious lesions vs. benign lesions. The long-range goal of the proposed program is to improve referral wait times for patients to see a dermatologist for lesions suspicious for melanoma in comparison to normal standards of care in NS. If effective, this screening program would decrease wait times for those patients with lesions suspicious for melanoma providing earlier diagnosis and expedited treatment, and potentially reducing mortality rates.

Eligibility: Inclusion Criteria:
  -  New referral from a general practitioner to a dermatologist
  -  Males and females, over the age of 18 are eligible to participate
  -  Written informed consent from the patient
  -  Lesion or mole is new, changing color, growing rapidly or has a change in sensation
  -  Willing to have the lesion excised if necessary per standard of care
  -  Ability to complete the imaging procedure and willing to complete a basic history
  -  Pigmented lesion considered low, moderate or high risk for melanoma by a general practitioner
  Exclusion Criteria
  -  Lesions which are not amenable
  -  Participant unable to read, understand or sign consent
  -  Participant under active care by a dermatologist
  -  Lesion <2 mm or >15mm in diameter
  -  Lesion located on areas of scars, crusts, psoriasis, eczema or similar skin conditions
  -  Lesion on hair covered areas (e.g. scalp, beard, mustache) where hair cannot be removed
  -  Lesions located on genitalia not accessible to equipment
  -  Lesions located in an area that has previously biopsied or subjected to any kind of surgical or ablative procedure
  -  Lesion with foreign matter, e.g. tattoo or splinter
  -  Lesion and/or reference located on acute sunburn
  -  Skin surface not measurable, e.g. lesion on a stalk
  -  Skin surface not accessible, e.g. inside ears, ears, under nails
  -  Skin not intact (measurement area), e.g. bleeding or with clinically noticeable ulceration
  -  Lesions located within 1cm of the eye
  -  Lesions light in pigment or thick and nodular
  -  Participants not willing to have the lesion excised

Relevance to patient case: not relevant
Patient case: 32-year-old male with melanoma; genetic feature: NRAS (Q61H)

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: definitely relevant