araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: A Trial of Trametinib and Panitumumab in RAS/RAF Wild Type Advanced Colorectal Cancer

Summary: This is a phase 2 study (the second phase in testing a new drug or drug combination) to see how useful the combination of two drugs, panitumumab and trametinib, are in patients with advanced colorectal cancer with KRAS, NRAS, or BRAF wild type (genes that are not mutated).
  Panitumumab is a drug that is approved by Health Canada for the treatment of advanced colorectal cancer with KRAS wild type. Panitumumab works by binding to and blocking the protein, epidermal growth factor receptor (EGFR) from working.
  Trametinib is a drug that is approved by Health Canada for the treatment of melanoma with a mutation in the BRAF gene. Trametinib works by binding to and blocking mitogen-activated protein kinase kinase (MEK) 1 and MEK2 from working.
  Previous studies have shown that the combination of panitumumab and trametinib may be more useful in KRAS, NRAS, or BRAF wild type colorectal cancer.


Eligibility: Inclusion Criteria:
  -  18 years of age or older
  -  KRAS/NRAS/BRAF wild type colorectal cancer, not responsive to standard therapies, no approved or curative therapy, refuse standard therapy
  -  Prior 5-FU, oxaliplatin and irinotecan
  -  ECOG Performance Status of 0 or 1
  -  Able to swallow/retain oral drugs
  -  Able and agree to have provide tumor tissue/have biopsies
  -  Agree to use contraception
  -  Not pregnant
  -  Adequate organ system function
  Exclusion Criteria:
  -  Chemotherapy, radiotherapy, immunotherapy, or other anti-cancer therapies <28 days or 5 half lives
  -  Prior EGFR, MEK, or RAF inhibitor or regorafenib
  -  Current use of prohibited medications
  -  Unresolved side effects
  -  GI disease or other condition affecting GI absorption
  -  Mucosal or internal bleeding
  -  Any major surgery <four weeks
  -  HIV, HBV, or HCV positive
  -  Active infection
  -  Leptomeningeal disease
  -  Brain metastases
  -  Unacceptable QTcF interval
  -  Significant uncontrolled arrhythmias
  -  Acute coronary syndromes, myocardial infarction, coronary angioplasty, or stenting or bypass grafting < 6 mos.
  -  Class II, III, or IV heart failure
  -  Other clinically significant ECGs
  -  Intra - cardiac defibrillators
  -  Cardiac metastases
  -  Condition that may interfere with patient safety
  -  Hypersensitivity to study drugs
  -  Severe or uncontrolled systemic diseases
  -  Pregnant or lactating
  -  Retinal vein occlusion
  -  Interstitial lung disease or pneumonitis
  -  Active liver or biliary disease

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Non Invasive Detection of IDH1/2 Mutation in Gliomas

Summary: This trial develops a non invasive diagnostic approach of IDH1 mutated gliomas combining mutation detection from free plasmatic DNA, D-2HG dosage in urine samples, and D-2HG detection by Brain Spectro MRI.
  In group 1 (25 patients), patients with presumed grade II-III gliomas candidate to surgery will undergo spectro MRI, plasma, urine dosages. Results will then be confronted to tumor mutational status and D-2HG.
  In group 2 (15 patients), patients with known IDH1 mutation will undergo spectro MRI, plasma, urine dosages overtime in order to correlate results with the response to treatment.

Detailed description: The aim of this trial is to develop and validate a non invasive diagnostic approach of IDH1 mutated gliomas. It will evaluate the specificity and sensitivity of D-2HG detection by Brain Spectro MRI. This approach will be coupled with mutation detection from free plasmatic DNA and D-2HG dosage in urine samples.
  The primary end-point is the quantification of D-2HG by spectro-MRI, and the correlation with the dosage of D-2HG in the tumor fragment, and the mutational status (group 1: 25 patients).
  The secondary endpoints include:
  1. longitudinal analysis Spectro-MRI overtime (12 months) correlation with radiological evolution and the response to treatment (group 2: 15 patients)
  2. Differentiation of tumor recurrence from radiation induced changes
  3. Confrontation of Spectro-MRI, D-2HG dosages and IDH mutation detection from plasma DNA, and elaboration of a combined score of prediction

Eligibility: Inclusion criteria
  1. Affiliation to a social security system
  2. Patient≥ 18 years old
  3. Written informed consent
  4. One of the two situations:
  -  presumed grade II-III glioma candidate to surgery (group 1)
  -  IDH1/IDH2 mutated grade II-III gliomas, candidate to chemotherapy or radiotherapy treatment, or simple follow-up (group 2)
  5. Evaluable tumoral mass min diameter >2 cm (FLAIR)
  6. PKPS > 60
  Exclusion criteria
  1. Contra-indication to MRI
  2. Patient unable to give an written Informed Consent
  3. Patient under guardianship or deprived of freedom
  4. For group 2: patient already included in group 1

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Open-label Study of FT-2102 With or Without Azacitidine or Cytarabine in Patients With AML or MDS With an IDH1 Mutation

Summary: This Phase 1/2 study will evaluate the safety, efficacy, PK, and PD of FT-2102 as a single agent or in combination with azacitidine or cytarabine. The Phase 1 stage of the study is split into 2 distinct parts: a dose escalation part, which will utilize an open-label design of FT-2102 (single agent) and FT-2102 + azacitidine (combination agent) administered via one or more intermittent dosing schedules followed by a dose expansion part. The dose expansion part will enroll patients in up to 5 expansion cohorts, exploring single-agent FT-2102 activity as well as combination activity with azacitidine or cytarabine. Following the completion of the relevant Phase 1 cohorts, Phase 2 will begin enrollment. Patients will be enrolled across 6 different cohorts, examining the effect of FT-2102 (as a single agent) and FT-2102 + azacitidine (combination) on various AML/MDS disease states.


Eligibility: Inclusion Criteria:
  -  Pathologically proven acute myeloid leukemia (AML) or intermediate, high-risk, or very high risk Myelodysplastic Syndrome (MDS) as defined by the World Health Organization (WHO) criteria or Revised International Prognostic Scoring System (IPSS-R) which is relapsed or refractory (R/R) to standard therapy and/or for which standard therapy is contraindicated or which has not adequately responded to standard therapy.
  -  Patients must have documented IDH1-R132 gene-mutated disease as evaluated by the site
  -  Good performance status
  -  Good kidney and liver function
  Exclusion Criteria:
  -  Patients with symptomatic central nervous system (CNS) metastases or other tumor location (such as spinal cord compression, other compressive mass, uncontrolled painful lesion, bone fracture, etc.) necessitating an urgent therapeutic intervention, palliative care, surgery or radiation therapy
  -  Congestive heart failure (New York Heart Association Class III or IV) or unstable angina pectoris. Previous history of myocardial infarction within 1 year prior to study entry, uncontrolled hypertension or uncontrolled arrhythmias
  -  Pulmonary disease (e.g. COPD, asthma, etc) that is not controlled (moderate to severe symptoms) with current medication
  -  Active, uncontrolled bacterial, viral, or fungal infections, requiring systemic therapy

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

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: possibly relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Observational Study on Endometrial Stromal Tumors

Summary: Observational, retrospective and prospective study on Endometrial Stromal Tumor (EST)

Detailed description: Observational, retrospective and prospective study on EST aimed to understand more about its biology, natural history and antitumor activity of different treatment options.
  This study will collect data in prospective and retrospective way of patients affected by EST and treated according disease guidelines and local practices.
  The study will also review the diagnosis by a central expert pathologist in order to its confirmation

Eligibility: Inclusion Criteria:
  -  patients with a diagnosis of Endometrial Stromal Tumor (EST) according to the World Health Organization (WHO) classification 2003 or 2014
  -  Informed consent signature
  Exclusion Criteria:
  -  patients with different diagnosis from EST

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Randomized Trial of Crenolanib in Subjects With D842V Mutated GIST

Summary: This is a multicenter, randomized, double-blinded, placebo-controlled, trial of oral crenolanib versus oral placebo in combination with best supportive care in subjects with advanced or metastatic GIST with a D842V mutation in the PDGFRA gene. Approximately 120 subjects will be randomized in a 2:1 ratio to receive either crenolanib 100 mg or matching placebo orally (PO) 3 times daily (TID) in combination with best supportive care.


Eligibility: Inclusion Criteria:
  1. Histologically or cytologically-confirmed advanced or metastatic GIST with a D842V mutation in the PDGFRA gene as determined by central laboratory testing
  2. Measurable disease as per modified RECIST 1.1
  • A lesion in an area that was previously treated with local therapy (e.g. radiation, surgery, or cryotherapy) can be considered measurable disease as long as there is objective evidence of progression of the lesion prior to randomization
  3. Subjects (male or female) ≥ 18 years of age
  4. Female subjects with reproductive potential must have negative serum or urine pregnancy test
  5. Eastern Cooperative Oncology Group (ECOG) performance status of ≤ 2
  Exclusion Criteria:
  1. Severe liver disease (e.g. cirrhosis, non-alcoholic steatohepatitis, sclerosing cholangitis)
  2. Known, active infection with hepatitis B virus (HBV) or hepatitis C virus (HCV)
  3. Female subject who is pregnant or breastfeeding, or planning to become pregnant within 30 days after ending treatment
  4. Systemic anti-cancer treatment (e.g. chemotherapy, tyrosine kinase inhibitors, immunotherapy, or investigational agents) or investigational device within 3 weeks or 5 half-lives (if the drug's half-life in subject is known) prior to randomization, whichever is shorter

Relevance to patient case: definitely relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Serum Dickkopf-4 as a Biomarker for the Diagnosis and Treatment of Gastrointestinal Stromal Tumor

Summary: Our study aims to evaluate the role of Dickkopf-4 as biomarkers in the treatment of gastrointestinal stromal tumor.

Detailed description: To identify whether Dickkopf-4 (DKK4) could be a potential biomarker for diagnosis and prognosis in patients with gastrointestinal stromal tumor (GIST). Serum was collected from 50 patients with GIST. Serological levels of DKK4 were examined by enzyme-linked immunosorbent assay (ELISA). The sensitivity and specificity was compared with modified NIH risk criteria. A 3-year follow-up was monitored to evaluate the correlation between DKK4 serum levels and relapse-free or overall survival. The expression of DKK4 in GIST tumor tissues was also evaluated using immunohistochemistry staining.

Eligibility: Inclusion Criteria:
  -  Primary gastrointestinal stromal tumor confirmed pathologically by surgery or biopsy
  -  Age from 18 - 70 years
  -  No serious organic and mental illness;
  Exclusion Criteria:
  -  Pregnancy
  -  No pathologic result
  -  Suffering other malignancies at the same time.

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: EGFRdelEx19 and KRAS Exon 2 Mutation Detection in EBUS-TBNA

Summary: First-line treatment with afatinib prolongs overall survival in patients with metastatic non-small-cell lung cancer (NSCLC) harboring EGFR exon 19 deletion mutations. Conversely, somatic KRAS mutations are negative predictors for benefit from EGFR-targeting agents. In this study we want to compare a new highly sensitive method for the detection of EGFRdelEx19 and KRAS Exon 2 with targeted-resequencing multiplex-PCR (NGS).

Detailed description: First-line treatment with afatinib prolongs overall survival in patients with metastatic non-small-cell lung cancer (NSCLC) harboring EGFR exon 19 deletion mutations. Conversely, somatic KRAS mutations are negative predictors for benefit from EGFR-targeting agents. Rapid availability of these biomarker results is mandatory to prevent delayed or inferior treatments.
  Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is well-established for lung cancer diagnosis and staging. Next generation sequencing (NGS) via targeted resequencing allows simultaneous interrogation for multiple mutations, but has its limitations based on the amount of tumor tissue required and assay times. RT-PCR using Light-Cycler technology (LC-RTPCR) is a rapid and sensitive assay to detect somatic mutations in various tissues from NSCLC patients. The study's aim was to analyze if LC-RTPCR is feasible for rapid EGFRdelEx19 and KRAS Exon 2 mutation detection in EBUS-TBNA samples and to compare results with results obtained via standard NGS mutation analyses.

Eligibility: Inclusion Criteria:
  -  lung adenocarcinoma positive EBUS-TBNA specimen
  Exclusion Criteria:
  -  other diagnosis

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: A Retrospective Pharmacokinetics and Pharmacogenomics Research of Imatinib in Gastrointestinal Stromal Tumor Treatment

Summary: For patients of GIST (Gastrointestinal Stromal Tumor), Imatinib has been widely used in GIST with KIT or PDGFRA sensitive mutations. From clinical points of view, individual differences often occur between different patients, leading diverse effect in ADR and drug effect. Meanwhile, the drug effect and adverse drug reaction was significantly influenced by the pharmacokinetic factors and pharmacodynamic and other factors. In this research, we try to establish a more sensitive method to detect sensitive mutations in plasma and discover the correlation between somatic and germline mutations, plasma trough concentration and drug effect, the association between ADME-associated SNP, Target/Receptor/Pathway-associated SNP, trough concentration and TKI adverse effect. Furthermore, in vivo and in vitro research is also crucial for rational explanation for these clinical phenomenon.

Detailed description: The plasma concentration of Imatinib were established. The ADME-associated SNPs included are CYP3A4, CYP3A4, CYP1A1, CYP2C9, CYP2C19, ABCB1, ABCG2, ABCC4, SLC22A1, SLCO1B3 and so on. The Target/Receptor/Pathway-associated SNP s included KIT, PDGFRA, PDGFRB, FLT1, FLT3, MAPK1, SHC1, CCL5, CXCL14 and so on. The somatic mutations included are KIT, PDGFRA, BRAF and so on.

Eligibility: Inclusion Criteria:
  -  The main patient entry criteria included: age≥ 18 years; histologically and cytologically proved GIST; Eastern cooperative oncology group performance status (ECOGPS)≤2; adequate hematological,renal,and hepatic functions.
  Exclusion Criteria:
  -  uncontrolled systemic disease,and other chemotherapy at the time of inclusion. The protocol was approved by the Ethical Committee of Cancer Center of Sun Yat-Sen University (CCSU), and written informed consent was obtained form each patient.

Relevance to patient case: possibly relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: BAY1436032 in Patients With Mutant IDH1(mIDH1) Advanced Acute Myeloid Leukemia (AML)

Summary: To determine the maximum tolerated and / or recommended Phase II dose of oral mutant IDH1 (mIDH1) inhibitor BAY1436032 and to characterize its safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary clinical efficacy in patients with mIDH1-R132X advanced acute myeloid leukemia (AML)


Eligibility: Inclusion Criteria:
  -  Patients with advanced AML that harbors IDH1 mutation
  -  Patients are relapsed from or refractory to at least 1 previous line of therapy
  -  Good kidney and liver function
  -  Male or female patients
  -  Eastern Cooperative Oncology Group (ECOG) performance status of 0, 1 or 2
  -  Women must have a negative serum pregnancy test within 7 days prior to the first dose of study drug or be surgically or biologically sterile or postmenopausal
  Exclusion Criteria:
  -  Previously treated with any prior mIDH1 targeted therapy
  -  Extramedullary disease only
  -  History of clinically significant or active cardiac disease
  -  Active clinically significant infection
  -  Unresolved chronic toxicity of previous AML treatment
  -  Taking known strong cytochrome P450 (CYP) 2C8 inducers or inhibitors
  -  Pregnancy or breast-feeding

Relevance to patient case: not relevant
Patient case: 56-year-old female with gastrointestinal stromal tumor; genetic feature: PDGFRA (D842V)

Clinical trial: Robotic Resection for Patients With Gastric Gastrointestinal Stromal Tumors: a Single-center Study

Summary: Patients with gastric gastrointestinal stromal tumors will receive robotic resection.

Detailed description: Gastrointestinal stromal tumors are the most common stromal tumors of the digestive tract. Approximately 60% of tumors develop in the stomach.Before, patients with gastric gastrointestinal stromal tumors would receive open or laparoscopic surgery. However, gastrointestinal stromal tumors located at special sites, such as cardia, were hardly treated. Recently, the robot was used to remove gastric gastrointestinal stromal tumors. In this study, the robot will be used to remove gastric gastrointestinal stromal tumors. Then, we will evaluate the effect of robotic gastric gastrointestinal stromal tumors resection.

Eligibility: Inclusion Criteria:
  1. Requirements of informed consent and assent of participant, parent or legal guardian as applicable.
  2. Patients with gastric gastrointestinal stromal tumors scheduled for robotic resection and between the age of 18 and 80 years old without considering sex.
  3. American Society of Anesthesiologists (ASA) physical status I-III.
  4. Participants can follow the visit plan.
  Exclusion Criteria:
  1. Patients certified by a doctor that doesn't fit to participate in this study.
  2. Patients with ischemic heart disease, cerebrovascular disease and peripheral vascular disease, or their cardiac function > II (NYHA) patients, patients received coronary artery bypass grafting (CABG) recently, and patients with severe hypertension (systolic pressure≥180mmHg or diastolic pressure≥110mmHg).
  3. Patients with gastrointestinal stromal tumor with distant metastasis.
  4. Patients with severe infection, respiratory dysfunction, coagulation disorders, severe liver and renal dysfunction (Child - Pugh≥ 10; creatinine clearance < 25 ml/min).
  5. Patients with gastrointestinal operations and complicated abdominal operations.
  6. Patients with severe malnutrition (albumin≤30g/L, weight loss in half a year＞10%, Subjective Global Assessment (SGA) classification C, body mass index ＜18, Hb＜70g/L).
  7. Pregnancy and lactation women, or have a pregnancy plan within a month after the test of the subjects (also including male participants).
  8. Patients participated other subjects 3 months before this subject.
  9. Sponsors or researchers directly involved in the testing or their family members.

Relevance to patient case: not relevant