araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: cKIT, BRAF/NRAS Mutations in Advanced Melanoma : Clinical Outcome in Response to Tyrosine-kinase Inhibitors - KitMel Project

Summary: Background: Metastatic melanoma has a devastating prognosis and is one of the top causes of cancer death in young patients. Until now, available therapies were few and unreliable, but recent understanding of melanomas' molecular pathways has improve their classification and new clinical strategies have been proposed.
  Initial studies showed that B-Raf/N-Ras mutations (respectively V600E and Q61) are the most frequent alteration being present in 70 to 80% of melanomas, characterizing non Chronic Sun-induced Damage skins (CSD). These include Superficial Spreading Melanomas (SSM) and Nodular Melanomas (NM). Other studies showed that c-Kit mutations are presently the predominant activating mutation (20 - 40 %) in Acro-Lentiginous Melanomas (ALM), Mucous Melanomas (MM) and in melanomas arising on CSD skin. c-Kit mutation pattern is more complex with four exons being affected leading to different mutations, which incidence and biological impact are less documented.
  BRAF/NRAS genetics alterations drive constantly cell growth, being thus attractive targets. Spectacular results have indeed been obtained with the BRAF inhibitor that targets the V600E BRAF-mutated form. Data from GIST disease revealed that the different c-Kit mutations modulate differently c-Kit function and the response to targeted therapies.
  Because c-Kit targeted therapy is a critical clinical issue, the investigators aimed to identify the most frequent mutations present in our population to propose appropriate screening test and adapt the therapy.
  Methods: 250 melanoma samples corresponding to an homogeneous white-Caucasian population (Brittany, France) will be screened. c-Kit exons 11, 13, 17 and 18 will be sequenced (direct sequencing and pyrosequencing when possible). c-Kit copy number will be quantified by q-PCR and level of c-Kit determined by immunohistochemistry (IHC, CD117). Samples will also be analyzed for B-Raf mutations in codon 464, 466, 469 and 600, and for N-Ras mutations in codon 12, 13 and 61 (Pyrosequencing).
  Expected Results:
  Taken together, the investigators anticipate that the present genetic analysis of the tumours from patients with advanced melanoma will first document the type and frequency of cKit mutations, will confirm or not that BRAF, NRAS and cKit mutations are mutually exclusive and document their repartition in the melanomas sub-types. Finally this study will clue researchers in to how well patients will respond to a therapy that targets the growth-promoting proteins BRAF/NRAS and cKIT.


Eligibility: Inclusion Criteria:
  -  melanoma
  -  white caucasian population

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Effects of Lifestyle-modification Induced Weight Loss on Sexual and Urinary Function, and Quality of Life in Obese Men

Summary: This study aims to evaluate the extent to which weight loss of 5-10% from baseline, induced by exercise and diet, improves metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary tract symptoms (LUTS), and quality of life in obese men.

Detailed description: This study aims to evaluate the extent to which weight loss of 5-10% from baseline, induced by exercise and diet, improves metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary tract symptoms (LUTS), and quality of life in obese men.Men aged 30-65 years, with body mass index (BMI) ≥ 27.5 kg/m2, will be recruited from referrals to the Sports Medicine Centre in Changi General Hospital. The study will be conducted at the Sports Medicine Centre by trained medical investigators, dieticians and sports trainers.At baseline, 12 and 24 weeks, fasting glucose and lipids, insulin, testosterone, sex-hormone binding globulin, serum C-reactive protein and interleukin-6 are measured, endothelial function is measured by the non-invasive EndoPAT method, and validated questionnaires administered to assess changes in erectile function, sexual desire, LUTS and quality of life

Eligibility: Inclusion Criteria:
  -  Male, aged 30-65 years
  -  Body Mass Index (BMI) >/= 27.5 kg/m2
  -  Waist circumference (WC) >/= 90 cm
  Exclusion Criteria:
  -  pituitary disease or cranial radiotherapy
  -  previous or current androgen replacement or deprivation therapy
  -  current treatment for sexual problems or LUTS
  -  glomerular filtration rate < 60 ml/min
  -  liver disease
  -  alcohol intake exceeding 500 g/week in the previous 12 months
  -  use of opiates, glucocorticoids, recreational drugs or phosphodiesterase inhibitors

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Effects of Diet-induced Weight Loss in Obese Men

Summary: This study aims to compare the efficacy of a partial meal replacement diet with a conventional diet, for inducing weight loss and improving metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary tract symptoms (LUTS), and quality of life in obese men.

Detailed description: This study aims to compare the efficacy of a partial meal replacement diet with a conventional diet, for inducing weight loss, and improving metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary tract symptoms (LUTS), and quality of life in obese men. Men aged 30-65 years, with body mass index (BMI) ≥ 27.5 kg/m2, will be recruited from the community in Singapore. The study will be conducted at Changi General Hospital by trained medical investigators, dieticians and sports trainers. At baseline and 12 weeks, fasting glucose and lipids, insulin, testosterone, sex-hormone binding globulin, serum C-reactive protein and interleukin-6 are measured, endothelial function is measured by the non-invasive EndoPAT method, and validated questionnaires administered to assess changes in erectile function, sexual desire, LUTS and quality of life

Eligibility: Inclusion Criteria:
  -  Male, aged 30-65 years
  -  Body Mass Index (BMI) >/= 27.5 kg/m2
  -  Waist circumference (WC) >/= 90 cm
  Exclusion Criteria:
  -  pituitary disease or cranial radiotherapy
  -  previous or current androgen replacement or deprivation therapy
  -  current treatment for sexual problems or LUTS
  -  glomerular filtration rate < 60 ml/min
  -  liver disease
  -  alcohol intake exceeding 500 g/week in the previous 12 months
  -  use of opiates, glucocorticoids, recreational drugs or phosphodiesterase inhibitors

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: A Clinical Trial to Assess the Safety & Efficacy of the Treatment of Patients With Metastasis From Malignant Melanoma - Treatment Consists of the Substances Lomustine (Capsules) & Cytarabine (Injected Into an Area Near the Spinal Cord), Accompanied by Radiotherapy of the Brain

Summary: The purpose of this trial is to test the safety and tolerance of the combination therapy with cytarabine, lomustine and radiotherapy in patients with leptomeningeal metastasis from malignant melanoma.


Eligibility: Inclusion Criteria:
  -  Malignant melanoma (including melanoma of unknown primary site, recurrent and pretreated systemic melanoma and/or melanoma with parenchymal CNS metastases) with leptomeningeal metastasis as demonstrated by a positive CSF (cerebrospinal liquor) cytology AND/OR by the presence of characteristic signs and symptoms of leptomeningeal metastasis supported by an MRI scan indicating the presence of meningeal tumour
  -  CSF flow abnormalities must be excluded
  -  Males or females ≥ 18 years of age
  -  Karnofsky Performance Status > 50%
  -  Adequate organ function (adequate bone marrow reserve, adequate liver function, adequate renal function. adequate blood clotting)
  Exclusion Criteria:
  -  Unresected parenchymal brain metastases with a diameter > 3 cm
  -  Prior non melanoma malignancy (unless adequately treated carcinoma in situ of the cervix or non melanoma skin cancer)
  -  Prior intrathecal chemotherapy
  -  Prior treatment with systemic cytarabine or nitrosureas
  -  The patient ist pregnant or breast feeding
  -  Severe, active co-morbidities

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

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: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Surgery Combined With rAd-p53 Gene in Treatment Advanced Non-small-cell Carcinoma

Summary: The primary objectives of this study are to investigate the efficacy and safety of surgery combined with rAd-p53 gene therapy in treatment of advanced Non-small-cell lung carcinoma (NSCLC). The study efficacy endpoints include overall survival, progress-free survival, quality of life, and local recurrent rate. The safety endpoint is complications and adverse effects.
  The study hypothesis: rAd-p53 gene therapy can prolong the overall survival and reduce the local recurrent rate.


Eligibility: Inclusion Criteria:
  -  historically diagnosed advanced non-small lung cancer
  -  has surgery indication
  -  age 18 years old or greater
  -  life expectancy greater than 12 weeks
  -  ECOG: 0-2
  -  no prior chemotherapy, radiotherapy in 2 weeks
  -  Neutrophils≥1.5×10^9/L,platelet≥80×10^9/L, Hb≥≥80g/L,bilirubin≤1.5×2mg/dl, ALT and AST≤2×institutional upper limit of normal,Cr≤1.5×institutional upper limit of normal,coagulation tests(INR and PTT)within normal range
  -  subject provides signed informed consent
  Exclusion Criteria:
  -  hypersensitive to study drug
  -  with a coagulational test unnormal or a bleeding disorder
  -  infections
  -  with serious condition which can't stand a surgery
  -  pregnant or lactating
  -  principle investigator consider not suitable

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: COPARIME: Pilot Study of a Target Detection of Malignant Melanoma

Summary: Melanoma is nowadays an important public health problem because its growing incidence. Mass screening for melanoma is not recommended worldwide because of its low cost-effectiveness. Nevertheless targeted screening for patients at high risk for melanoma is promoted. This study is designed to assess the effectiveness and the acceptability of a melanoma targeted screening of melanoma, to estimate the risk function to develop a melanoma among patients at high risk according to the SAMScore and to estimate the ratio cost/ efficacy of the melanoma targeted screening. A cohort of 7700 patients is carried out in 2 departments covered by a registry of cancers. The recruitment had began in April 2011. Patients assessed at high risk according to the SAMScore were proposed a skin examination by their GP every year.


Eligibility: Inclusion Criteria:
  -  patients more than 18 years old,
  -  consulting their GP,
  -  assessed at risk for melanoma according to the SAMScore
  -  signed the consent.

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Trial of FFP+HDMP+Rituximab for Ultra-high Risk Chronic Lymphocytic Leukemia

Summary: The purpose of this study is to investigate efficacy and safety of fresh frozen plasma(FFP), high dose methylprednisolone(HDMP) and rituximab for ultra-high risk chronic lymphocytic leukemia.

Detailed description: Chronic lymphocytic leukemia remains incurable and particularly in ultra-high risk subgroup, and the prognosis of these patients is still dismal.
  This is a phase III, multicenter perspective clinical trial of combination of fresh frozen plasma(FFP), high dose methylprednisolone(HDMP) and rituximab for ultra-high risk chronic lymphocytic leukemiaThe. The main purpose of this study is to investigate efficacy and safety of this combinated regimen in subgroup of CLL patients.
  All the enrolled patients will be followed during and after the treatment period up to one year. Interim and final evaluation will be done after each cycle of treatment.

Eligibility: Inclusion Criteria:
  1. Aged 18-80 years old.
  2. Diagnosis of chronic lymphocytic leukemia.
  3. Active disease meeting at least one of the International Workshop on Chronic Lymphocytic Leukemia 2008 criteria for requiring treatment.
  4. Ultra-high risk CLL(Meets at least one of the following criteria) (1)ultra high-risk genetics (17p deletion and/or TP53 mutation) (2)short PFS(<24 months)after intense immunochemotherapy treatment(i.e. FCR, FR, PCR, BR etc) (3)fludarabine-refractory
  5. Understand and voluntarily sign an informed consent form, able to adhere to the study visit schedule and other protocol requirements
  Exclusion Criteria:
  1. Severe allergic constitution or asthma.
  2. Recent myocardial infarction or hypotension.
  3. ECOG performance status of ≤ 2 at study entry.
  4. Active hepatitis B(DNA >1×103/ml)
  5. Severe and uncontrolled diabetes mellitus.
  6. Severe and uncontrolled hypertension(BP> 150/90 mmHg after treatment).
  7. Active and uncontrolled systematic infection which need treatment of antibiotics.
  8. Clinical symptoms of dysfunction of central nervous system.
  9. Unstable and severe gastrorrhagia and peptic ulcer.
  10. Major surgery within three weeks.
  11. Any potential drug abuse, medical, psychological or social conditions which may disturb this investigation and assessment.
  12. In any conditions which investigator considered ineligible for this study

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Genomic Predictors of Decitabine Response in Patients With Acute Myeloid Leukemia or Myelodysplastic Syndromes

Summary: This clinical trial studies potential genetic markers which might be used to predict which patients with acute myeloid leukemia or myelodysplastic syndromes respond to decitabine. This study will contribute to the efforts to find effective and less toxic therapies to provide durable remissions in a significant proportion of elderly AML patients.


Eligibility: Inclusion Criteria:
  All of the following:
  -  Patient must have non-M3 AML or MDS
  -  An adverse risk karyotype defined by:
  -  Complex karyotype by cytogenetics, or
  -  Deletion of all or part of chromosome 5, 7, 12, or 17 defined by FISH or cytogenetics, or
  -  Somatic TP53 mutation
  All of the following:
  1. Patient must have an ECOG performance status ≤ 2.
  2. Patient must have >10% disease burden measured by cytomorphology, flow cytometry, or cytogenetics.
  3. Patient must have peripheral white blood cell count < 50,000/mcl.
  4. Patient must have adequate organ function, defined as:
  1. Total bilirubin < 1.5 x ULN
  2. AST/ALT < 2.5 x ULN
  3. Serum creatinine < 2.0 x ULN
  5. Patient must have undergone ≤ 2 cycles of prior hypomethylating agent (decitabine or azacitidine).
  6. Patient must be enrolled in HRPO# 201011766 ("Tissue Acquisition for Analysis of Genetic Progression Factors in Hematologic Diseases").
  7. Patient must be > 18 years of age.
  8. Patient must be able to understand and willing to sign an IRB-approved written informed consent document.
  Exclusion Criteria:
  -  Patient must not be pregnant or nursing
  -  Patient must not have acute promyelocytic leukemia or t(15;17) observed by FISH.
  -  Patient must not have known central nervous system (CNS) leukemia
  -  Patient must not have a history of positive human immunodeficiency virus (HIV) serology
  -  Patient must not have a history of positive hepatitis C serology
  -  Patient must not have undergone prior allogeneic stem cell transplant
  -  Patient must not have any uncontrolled intercurrent illness including, but not limited to, ongoing or active infection, ongoing or active graft-versus-host disease (GVHD), congestive heart failure of New York Heart Association (NYHA) class 3 or 4, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situation that would limit compliance with study requirements
  -  Patient must not have had radiation therapy within 14 days of enrollment
  -  Patient must not have received any chemotherapy within 21 days of enrollment and any acute treatment-related toxicities must have returned to baseline. Patients may be receiving hydrea at time of enrollment.

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: A Study to Compare BMS-936558 to the Physician's Choice of Either Dacarbazine or Carboplatin and Paclitaxel in Advanced Melanoma Patients That Have Progressed Following Anti-CTLA-4 Therapy (CheckMate 037)

Summary: The purpose of the study is to estimate the response rate and compare overall survival of patients taking BMS-936558 to those taking study physician's choice of either Dacarbazine or Carboplatin and Paclitaxel


Eligibility: For more information regarding BMS clinical trial participation, please visit www.BMSStudyConnect.com
  Inclusion Criteria:
  -  Men & women ≥ 18 years of age
  -  Eastern Cooperative Oncology Group (ECOG) performance status (PS) 0-1
  -  Histologically confirmed Stage III (unresectable)/Stage IV melanoma
  -  Measurable disease by computed tomography (CT)/magnetic resonance imaging (MRI) per Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 criteria
  -  Objective evidence of disease progression (clinical or radiological) during or after at least 1 (V600 Wildtype) or at least 2 (V600 mutation positive) prior treatment regimens
  -  Pre-treatment fresh core, excision or punch tumor biopsy
  -  Archival Formalin-fixed paraffin-embedded (FFPE) tumor material if available
  Exclusion Criteria:
  -  Any treatment in a BMS-936558 (Nivolumab) trial
  -  Subjects with condition requiring systemic treatment with either corticosteroids (> 10mg daily prednisone/equivalent) or other immunosuppressive medications within 14 days of study drug administration
  -  Active, known or suspected autoimmune disease
  -  Unknown BRAF status
  -  Active brain metastasis or leptomeningeal metastasis
  -  Ocular melanoma
  -  Prior therapy with anti programmed death-1 (anti-PD-1), anti programmed death-ligand 1 (anti-PD-L1) or anti-programmed death-ligand 2 (anti-PD-L2)

Relevance to patient case: not relevant
Patient case: 72-year-old male with melanoma; genetic feature: TP53 loss of function

Clinical trial: Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

Summary: This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group. A secondary end-point will be the number of incidental findings detected and subsequent investigations required. A series of questionnaires will be used to assess the psychological impact of screening on both the study and control group.


Eligibility: Inclusion Criteria:
  -  Carrier of germline TP53 mutation which, in the view of the geneticist, is not known to be low penetrance OR non-related individual with no personal history of malignancy and no first degree relatives diagnosed with malignancy under the age of 50 years
  -  Please note, TP53 carrier cohort is complete and no longer open to recruitment
  -  Age between 18 and 60
  -  Able to give informed consent
  Exclusion Criteria:
  -  Individual with low penetrance TP53 mutation
  -  Individual with TP53 variant of unknown significance.
  -  Previous malignancy diagnosed < 5 years ago in TP53 carriers (except non-melanomatous skin cancer or cervical CIS) Previous history of malignancy in non-related controls (except non-melanomatous skin cancer or cervical CIS)
  -  Current symptoms suggestive of malignancy
  -  Contraindication to MRI (such as non-MR compatible metal implants) as specified by the standard MR safety checklist
  -  Claustrophobia
  -  ECOG performance status >2

Relevance to patient case: not relevant