araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: A Study of Vemurafenib in Metastatic Melanoma Participants With Brain Metastases

Summary: This open-label, single-arm, multicenter study will evaluate the efficacy and safety in participants with metastatic melanoma who developed brain metastases. Participants may or may not have received prior systemic treatment for metastatic melanoma [except treatment with v-raf murine sarcoma viral oncogene homolog B (BRAF) or mitogen-activated protein kinase (MEK) inhibitors]. Participants will receive oral doses of 960 mg vemurafenib twice daily until disease progression, unacceptable toxicity or consent withdrawal.


Eligibility: Inclusion Criteria:
  -  Adult participants, >/= 18 years of age
  -  Histologically confirmed metastatic melanoma (Stage IV, American Joint Committee on Cancer) with BRAF V600 mutation (cobas 4800 BRAF V600 Mutation Test)
  -  Measurable brain metastases, defined as lesions that were accurately measured in at least one dimension (longest diameter to be recorded) as ≥0.5 cm in the brain MRI with contrast, treated or untreated
  -  Participants may or may not have received prior systemic therapy for metastatic melanoma and either a) have received no prior treatment for brain metastases or b) have received prior treatment for brain metastases and have progressed
  -  Participants may or may not have symptoms related to their brain metastases
  -  Eastern Cooperative Oncology Group (ECOG) performance status 0-1
  -  Participants must have recovered from all side effects of their most recent systemic or local treatment for metastatic melanoma
  Exclusion Criteria:
  -  Increasing corticosteroid dose during the 7 days prior to first dose of study drug
  -  Leptomeningeal involvement in participants with no prior treatment for brain metastases
  -  Previous malignancy requiring active treatment within the past 2 years, except for treated and controlled basal or squamous cell carcinoma of the skin, or carcinoma in-situ of the cervix
  -  Concurrent administration of any anticancer therapies other than those administered in the study
  -  Treatment with any cytotoxic, investigational drug or targeted therapy 4 weeks prior to first dose of study drug. Radiation therapy ≤1 week prior to first administration of vemurafenib; and stereotactic radiotherapy ≤1 day prior to prior to first administration of vemurafenib
  -  Prior treatment with BRAF or MEK inhibitors
  -  Clinically significant cardiovascular disease or event within the 6 months prior to first dose of study drug

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Neurofibromatosis Type 1 Patient Registry

Summary: The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social problems experienced by children and adults with NF1. The information gained from your participation may one day help doctors develop personalized treatments for individuals living with NF1.
  We are currently enrolling individuals with NF1 who either (1) HAVE previously been diagnosed with a brain tumor younger than 18 years or (2) HAVE NEVER had a brain tumor. Please note: there is no therapy associated with this study. Individuals may participate in the registry by going to https://nf1registry.wustl.edu/


Eligibility: Inclusion Criteria:
  -  Individuals diagnosed by a healthcare provider with Neurofibromatosis Type 1
  Exclusion Criteria:
  -  Individuals without a healthcare provider diagnosis of Neurofibromatosis Type 1

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: A Phase I Study of Oral LGX818 in Adult Patients With Advanced or Metastatic BRAF Mutant Melanoma

Summary: CLGX818X2101 is a first-time in-human, phase I study to establish the maximum tolerated dose (MTD) and/or recommended phase 2 dose (RP2D) of daily administered LGX818 (daily, twice daily and/or every-other-day), a RAF kinase inhibitor. Patients with locally advanced or metastatic melanoma harboring the BRAF V600 mutation (during dose escalation phase and expansion phase) and patients with metastatic colorectal cancer harboring the BRAF V600 mutation (during the expansion phase) will be enrolled. The study consists of a dose escalation part were cohorts of patients will receive escalating oral doses of LGX818, followed by a safety dose expansion part were patients will be treated with oral dose of LGX818 given at the MTD or RP2D.


Eligibility: Inclusion Criteria:
  For the dose escalation phase:
  1. Histologically confirmed diagnosis of locally advanced or metastatic melanoma (stage IIIB to IV per American Joint Committee on Cancer [AJCC]). For the dose expansion phase: (i) Histologically confirmed diagnosis of locally advanced or metastatic melanoma (stage IIIB to IV per American Joint Committee on Cancer [AJCC]), or (ii) confirmed diagnosis and non-resectable advanced metastatic colorectal cancer (mCRC) for which no further effective standard therapy exists.
  2. Written documentation of BRAF V600E mutation, or any other BRAF V600 mutation.
  3. Evidence of measurable disease
  Exclusion Criteria:
  1. Previous therapy with a MEK inhibitor.
  2. Symptomatic or untreated leptomeningeal disease.
  3. Symptomatic or untreated brain metastasis.Patients previously treated for these conditions that are asymptomatic in the absence of corticosteroid therapy are allowed to enroll. Brain metastasis must be stable with verification by imaging.
  4. Known acute or chronic pancreatitis.
  5. Clinically significant cardiac disease
  6. Impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of oral LGX818
  7. Previous or concurrent malignancy. Exceptions to this exclusion criteria include: adequately treated basal cell or squamous cell skin cancer; in situ carcinoma of the cervix, treated curatively and without evidence of recurrence for at least 3 years prior to study entry; or other solid tumor treated curatively, and without evidence of recurrence for at least 3 years prior to study entry.
  8. Pregnant or nursing (lactating) women, where pregnancy is defined as the state of a female after conception and until the termination of gestation, confirmed by a positive hCG laboratory test (> 5 mIU/mL).
  9. History of thromboembolic or cerebrovascular events within the last 6 months
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: miRNA Machinery in Melanoma, Melanoma Metastases and Benign Melanocytic Naevi

Summary: MicroRNAs (miRNAs) are very small endogenous RNA molecules about 22-25 nucleotides in length, capable of post-transcriptional gene regulation. miRNAs bind to their target messenger RNAs (mRNAs), leading to cleavage or suppression of target mRNA translation based on the degree of complementarity. miRNAs have recently been shown to play pivotal roles in diverse developmental and cellular processes and linked to a variety of skin diseases and cancers. In the present study, the investigators examines the expression profiles of miRNA machinery components such as miRNA maturation and transport factors, microprocessor complex and RISC subunits in cutaneous melanoma, cutaneous melanoma metastases and benign melanocytic nevi.

Detailed description: Patients with cutaneous melanoma, cutaneous melanoma metastases and benign melanocytic nevi were included in the study. Punch biopsies were harvested from the center of the tumors. The miRNA machinery components were detected by quantitative real-time reverse transcriptase polymerase chain reaction.

Eligibility: Inclusion Criteria:
  -  cutaneous melanoma
  -  cutaneous melanoma metastases
  -  benign melanocytic nevi
  Exclusion Criteria:
  -  other forms of malignancy

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Comparative Microarray Analysis in Primary Cutaneous Malignant Melanoma

Summary: Perturbations in microRNA (miRNA) expression profiles has been reported for cutaneous malignant melanoma (CMM). This study will be an exploratory analysis by miRNA expression profiling using microarrays.

Detailed description: Perturbations in microRNA (miRNA) expression profiles has been reported for cutaneous malignant melanoma (CMM). With regards to a rapidly growing number of newly discovered miRNA sequences, the availability of up-to-date miRNA expression profiles for primary cutaneous malignant melanoma (PCMM), cutaneous malignant melanoma metastases (CMMM) and benign melanocytic naevi (BMN) is limited. Patients with PCMM, CMMM and BMN are included in the study to perform an exploratory analysis by miRNA expression profiling using microarrays. Expression levels of miRNA candidates will be validated by TaqMan real-time quantitative polymerase chain reaction (RT-PCR).

Eligibility: Inclusion Criteria:
  -  Primary Cutaneous Malignant Melanoma
  -  Cutaneous Malignant Melanoma Metastases
  -  Benign Melanocytic Naevi
  Exclusion Criteria:
  - Other Skin Cancer than Primary Cutaneous Malignant Melanoma

Relevance to patient case: possibly relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Tissue and Blood Biomarkers From Patients With Stage III or Stage IV Melanoma Treated With Ipilimumab With or Without Sargramostim

Summary: RATIONALE: Studying samples of tissue and blood in the laboratory from patients treated with ipilimumab with or without sargramostim may help doctors learn more about the effects of ipilimumab and sargramostim on cells. It may also help doctors understand how well patients respond to treatment.
  PURPOSE: This research trial studies tissue and blood biomarkers in patients with stage III melanoma or stage IV melanoma treated with ipilimumab with or without sargramostim.

Detailed description: OBJECTIVES:
  -  To compare the pathology of primary melanomas, melanoma metastases, and post-treatment melanoma metastases in relation to clinical outcomes for patients receiving ipilimumab plus sargramostim (GM-CSF) and patients receiving ipilimumab alone.
  -  To determine the effects of the addition of systemic GM-CSF to ipilimumab on effector immune function in patients with metastatic melanoma.
  -  To determine the effects of the addition of systemic GM-CSF to ipilimumab on regulatory immune function in patients with metastatic melanoma.
  -  To determine the effects of the addition of systemic GM-CSF to ipilimumab on anti-tumor humoral immunity in patients with metastatic melanoma.
  OUTLINE: Serum, peripheral blood mononuclear cells, and tumor tissue (from primary tumor and post-treatment biopsies) samples are analyzed for biomarkers predictive of clinical outcomes, immune function, and anti-tumor humoral immunity by IHC, RT-PCR, flow cytometry, ELISPOT assays, and ELISA.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of measurable unresectable stage III or stage IV melanoma
  -  Treated with ipilimumab with or without sargramostim on clinical trial ECOG-E1608
  -  Primary tumor tissue and optional post-treatment biopsies of tumors from easily accessible tissues
  PATIENT CHARACTERISTICS:
  -  ECOG performance status 0 or 1
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Sensitivity/Specificity Study of Non-invasive Imaging for Melanoma Diagnosis

Summary: The purpose of this study is to show how well a new device, confocal microscope, works to detect malignant melanoma, a type of skin cancer.


Eligibility: Inclusion Criteria:
  -  Age 12 or older
  -  Patient who has already been selected by their dermatologist for biopsy of a suspicious pigmented lesion and who consents to participate in the study
  -  Signed informed consent
  Exclusion Criteria:
  -  Age < 12 years

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: A Pilot Study Evaluating Safety of Sitagliptin Combined With Peg-IFN Alfa-2a + Ribavirin in Chronic Hepatitis C Patients

Summary: Hepatitis C infection is a major public health problem with nearly 175 million infected individuals worldwide. Although cure is possible, only 20-40% of patients spontaneously resolve infection and 40-80% of chronically infected patients (numbers vary depending on viral genotype) that receive pegylated-interferon-alfa2a/ribavirin therapy clear the virus and are sustained virologic responders (SVR). Still for many, the virus manages to circumvent natural immunity and current therapeutic strategies, resulting in significant morbidity and mortality.
  To better define the distinct clinical outcomes of HCV infection many investigators have performed candidate molecules screens or transcriptional profiling in order to identify correlates of viral clearance. One molecule that has gained significant attention is CXCL10 (also known as interferon-gamma induced protein-10 or IP-10) as an important negative prognostic biomarker. Given that CXCL10 is produced by hepatocytes and mediates chemo-attraction of activated lymphocytes expressing the CXCL10-receptor, CXCR3, it is counter-intuitive as to why this chemokine correlates with therapeutic non-responsiveness.
  The investigators hypothesized and have now demonstrated that CXCL10 is being cleaved in situ, resulting in the generation of an antagonist form of the chemokine. Based on the use of specific inhibitors, the investigators now propose to test whether protection of the agonist form of CXCL10 will increase responsiveness to peg-IFN-alfa2 / ribavirin therapy. This can be achieved using DPPIV inhibitors, targeting the enzyme responsible for N-terminal truncation of CXCL10. If safety is confirmed, the efficacy of DPPIV-inhibition in HCV patients will be tested in future trials that examine potential clearance benefits.


Eligibility: Inclusion Criteria:
  -  Age between 18 and 70 years
  -  For women, effective contraception during the trial and a negative pregnancy test (urine) before enrollment
  -  Patients naïve to prior hepatitis C treatment
  -  Confirmed HCV infection, based on the presence of HCV antibodies and plasma viremia allowing a measure of the circulating viral load
  -  Infection with HCV genotype 1 or 4
  -  Intent of treatment Alfa2 pegylated IFN-/ ribavirin
  Exclusion Criteria:
  -  HBV Infection
  -  HIV Infection
  -  Severe anemia (Hb <7-8 g / dl)
  -  Renal failure (creatinine clearance <60 ml / min)
  -  Taking digoxin within 6 months of starting treatment.
  -  Taking immunosuppressants within 6 months of starting treatment
  -  History of serious hypersensitivity reaction (such as anaphylactic shock or angioedema) to sitagliptin
  -  Patients with type I and II diabetes
  -  Pregnancy or absence of effective contraception
  -  A person deprived of liberty by judicial or administrative decision
  -  Living conditions-suggesting an inability to track all scheduled visits by the protocol

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Proton Radiation Therapy for Spinal Tumors

Summary: The purpose of this study is to determine if Proton Therapy can provide effective and safe treatment for Malignant Peripheral Nerve Sheath Tumors of the spine and Neurofibromas of the spine.

Detailed description: Proton therapy may provide the benefits of local control or palliation, while reducing the risk associated with photon radiation, by delivering therapeutic doses to a well-defined target area with significant reduction in the integral dose. A dosimetry comparison of protons and photons at the University of Florida Proton Therapy Institute confirmed the feasibility of proton irradiation of these tumors with less exposure of normal tissue to radiation than expected with photon techniques. This reduced radiation exposure to uninvolved normal tissues is expected to decrease the risk of radiation-induced second malignancies and neoplasms.

Eligibility: Inclusion Criteria:
  -  MPNSTs that are biopsy-positive and resected, subtotally resected or unresectable.
  -  Symptomatic (pain, numbness, or weakness) NF1 neurofibromas that are biopsy-positive and unresectable or subtotally resected.
  -  Symptomatic NF1 neurofibromas that are unbiopsied and PET-negative, if the patient refuses biopsy/surgery or is medically inoperable.
  -  Asymptomatic NF1 neurofibromas with radiologic progression after surgery.
  -  PET-positive, unbiopsied lesions in NF1 patients who refuse biopsy/surgery or are medically inoperable.
  Exclusion Criteria:
  -  Spinal instability.
  -  Metal stabilization hardware within the target area.
  -  Previously irradiated at this disease site.
  -  Spinal cord compression with complete loss of function.

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Study of Circulating Tumor Cells Before and After Treatment in Patients With Metastatic Melanoma

Summary: Circulating tumor cells (CTC) are the subject of increasing interest in clinical oncology as a prognostic factor and predictor of therapeutic response. The detection of CTC by immunomagnetic method has proved its reliability and its usefulness for monitoring breast cancer, colon and prostate in the metastatic and immunomagnetic detection system (CellSearch, Veridex LLC) was approved by the FDA in these indications. However, to date there is no reliable method to detect CTCs in melanoma (CMC). Studies based on PCR amplification of mRNA by reverse specific melanoma is disappointing. Recently, a new detection system of CMC immunomagnetic was presented (CellSearch, Veridex LLC, United States). This system has the advantage of combining immunomagnetic selection step and a step of identifying by immunofluorescence. A preclinical study on serial dilutions of melanoma cells has shown encouraging results. The investigators propose a prospective study of the CellSearch system in patients with melanoma.
  Primary objective: To determine the effect of treatment on the number of circulating melanoma cells in patients with metastatic melanoma.
  Secondary objectives:
  -  determine the percentage of patients with metastatic melanoma with melanoma cells circulating
  -  seek a relationship between the number of circulating melanoma cells and prognosis in patients with metastatic melanoma
  -  seek a relationship between the change in the number of circulating melanoma cells before / after treatment and tumor response in patients with metastatic melanoma


Eligibility: Inclusion Criteria:
  -  Patients > or = 18 years
  -  Patients with advanced melanoma stage IIIC (unresectable) or stage IV
  -  Patient not treated or not responding to chemotherapy with chemotherapy session last> 1 month
  -  Patients who signed informed consent
  -  Patients presenting no socio-economic, psychological, familial or geographical allow proper understanding of the information leaflet of the protocol or the regular monitoring in the department of dermatology
  -  Patients with a life expectancy greater than 3 months
  -  Patients with melanoma measurable by RECIST version 1.1
  -  Patients with venous good for venipuncture
  Exclusion Criteria:
  -  Patients with contraindication for treatment with chemotherapy or V600E BRAF inhibitor or ipilimumab or have conditions concomitant heavy may interfere with the treatment of metastatic melanoma
  -  Pregnant women or nursing
  -  People vulnerable detainees, adults under guardianship or curatorship, minors.

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: How Neurofibromatosis Type 1 (NF1) Affects Schoolwork and Self-Esteem

Summary: The study will seek to determine whether there is a corresponding deficit in school performance for teenagers with NF1. Secondly, the study seeks to explore the issue of self-esteem in teenagers with NF1.


Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of Neurofibromatosis Type 1
  Exclusion Criteria:
  -  Neurofibromatosis Type 2
  -  Schwannomatosis

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Physical Training and the Incretin Effect

Summary: It is well known that continuous physical exercise leads to a number of changes in the body. Maximal oxygen uptake; the heart's pumping ability and muscle mass and strength increases. Also the metabolism adapts: The ability to oxidize fat increase and the insulin sensitivity in primarily in muscle, but also in the liver increase.
  Also endocrine glands adapts according to the level of physical activity. It is known that in healthy, younger people the insulin secretion from the pancreas after administration of sugar consumed orally or given directly into a vein, is significantly lower in trained individuals compared with untrained. This change does, however, not only apply to glucose, as also stimulation by the amino acid arginine, shows the same pattern.
  It seems plausible that the endocrine glands/cells adapts to the level of physical training, but this has not yet been investigated.
  The gastrointestinal tract is the birthplace of a variety of hormones. One group of these is called incretin hormones. They stimulate the glucose dependant insulin secretion in the pancreas and affect hunger/satiety. Whether the incretin production and thus their concentration in the blood is regulated by physical training is unknown.
  Obese and patients with type 2 diabetes, has, in contrast to well-trained, decreased insulin sensitivity. As a consequence their (type 2 diabetics, at least early in their disease course) meal stimulated insulin release is greater than in healthy, normal weight individuals. This in spite of the fact that the incretin effect is reduced in obese people and patients with type 2 diabetes compared to healthy, normal weight.
  Whether physical training affects both the secretion of incretins and the incretin effect has not yet been studied.
  The purpose of this study is to investigate whether incretin hormones in physical well-trained young men have a changed effect on insulin secretion from the pancreas compared to untrained young men. A difference may indicate that the body's endocrine glands adapts to training mode.
  The investigators hypothesis is that incretin hormones have a decreased effect on the glucose dependant insulin release in physically trained persons and thus results in a lower insulin release at any given plasma glucose level.


Eligibility: Inclusion Criteria:
  -  Sedentary: 50>Maximal oxygen uptake (VO2max), ml*min-1*kg-1 OR endurance trained VO2max, ml*min-1*kg-1>60
  -  20-30 years
  -  BMI: 18,5-25kg/m2
  -  Caucasian
  -  Healthy
  Exclusion Criteria:
  -  Any kind of medication or diabetes in the family (parents, siblings),
  -  Non-caucasian

Relevance to patient case: not relevant