araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

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: definitely relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

Clinical trial: Molecular Characterization of Acute Erythroid Leukemia (M6-AML) Using Targeted Next-generation Sequencing

Summary: Acute erythroid leukemia (AEL) is a morphologically distinct, infrequent (o5%) acute myeloid leukemia (AML) designed as M6 in the French- American-British (FAB) classification. The World Health Organization classification recognizes two subclasses, M6a, a leukemia with myeloid blast cells, and M6b, a very rare, purely erythroid AML. It may be difficult to distinguish between a myelodysplastic syndrome and AEL because of the erythroblastic proliferation, which is increased when dysplasia is present. No recurrent cytogenetic abnormality is specific of AEL and the prognosis is poor with a median survival of 17 months. A study of 14 genes in a series of 92 cases has shown that mutations are frequent in AEL and somewhat differ from the other AMLs by the lower and higher proportion of FLT3-ITD and TP53 mutations, respectively. Only three cases of AEL are reported in the TCGA database. To further characterize AEL, determine whether it constitutes a distinct class of AML and document the reasons for its poor prognosis, the investigators will search for molecular alterations in 40 M6a-AMLs using array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) of 106 genes known or suspected to have a role in myeloid malignancies or in erythrocyte differentiation.


Eligibility: Inclusion Criteria:
  -  Age>18 year
  -  Diagnosis of AML6
  -  Written consent obtained
  Exclusion Criteria:
  -  No written consent
  -  No frozen samples

Relevance to patient case: not relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

Clinical trial: Sarcopenia in Patients With Gastrointestinal Stromal Tumours

Summary: The treatment of advanced gastrointestinal stromal tumours (GIST) has shifted since the arrival of targeted therapies. Imatinib is an active multikinase inhibitor that mainly targets C-kit tyrosine-kinase receptors and the platelet-derived growth factor receptor. Imatinib use has been validated for adjuvant and palliative therapy settings. Imatinib is generally well-tolerated and known to improve performance status but up to 16% grades 3-4 toxicities, leading to at least 40% withdrawals, have been reported.
  Recently, in oncology, sarcopenia was shown to be a predictor of severe toxicity patients included in phase 1 trials, suggesting that it should be considered an inclusion criterion for such studies. Sarcopenic patients had low performance status, shorter survival, more chemotherapy toxicities and post-operative infections, and longer post-operative hospitalization times. In addition, exposure to tyrosine-kinase inhibitors (e.g. sorafenib or sunitinib) has been associated with dose-limiting toxicity (DLT) in patients with renal cell or hepatocellular carcinomas.
  Computed tomography (CT) scans acquired during routine care have been validated as an accurate and robust imaging technique to evaluate sarcopenia in cancer patients.

Detailed description: Aims of the study were:
  -  to assess the influence of imatinib on sarcopenia patients with advanced or high-risk resected gastrointestinal stromal tumours (GIST)
  -  to compare imatinib-induced toxicities between patients with advanced or high-risk resected gastrointestinal stromal tumours (GIST) with pre-treatment sarcopenia and patients with advanced or high-risk resected gastrointestinal stromal tumours (GIST) without pre-treatment sarcopenia

Eligibility: Inclusion Criteria:
  -  Patients with advanced or high-risk resected gastrointestinal stromal tumours (GIST)
  -  Patients treated with imatinib prescribed at a fixed dose of 400 mg/day from 1 January 2005 to 31 December 2013
  -  Aged > 18 years
  Exclusion Criteria:
  -  Patients who did not have CT imaging within the 30 days preceding treatment onset

Relevance to patient case: not relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

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: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

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: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

Clinical trial: A Study Evaluating the Impact of Venetoclax on the Quality of Life for Subjects With Relapsed (Your Cancer Has Come Back) or Refractory (no Response to Previous Cancer Treatments) Chronic Lymphocytic Leukemia (CLL) While Receiving Venetoclax Monotherapy (a Single Agent).

Summary: The purpose of this open-label, single-arm study is to evaluate the impact of venetoclax on the quality of life of participants including those with with relapsed/refractory (R/R) chronic lymphocytic leukemia (CLL; a type of cancer affecting the blood and the bone marrow) with or without the 17p deletion or TP53 mutation, including subjects with an unknown status, as well as R/R CLL subjects who have been previously treated with B-cell receptor inhibitor (BCRi) therapy. The starting dose of venetoclax is 20 mg once daily. The dose must be gradually increased over a period of 5 weeks up to the daily dose of 400mg. Participants may continue receiving venetoclax for up to 2 years. After the treatment period, participants may continue on into a 2-year follow-up period.


Eligibility: Inclusion Criteria:
  -  Eastern Cooperative Oncology Group (ECOG) performance score of less than or equal to 2.
  -  Participant has relapsed/refractory disease (received at least one prior therapy).
  -  Diagnosis of CLL that meets published 2008 Modified International Workshop on CLL National Cancer Institute - Working Group (IWCLL NCI-WG) Guidelines and:
  -  has an indication for treatment according to the 2008 Modified IWCLL NCI-WG Guidelines
  -  has clinically measurable disease (lymphocytosis > 5 × 10^9/L and/or palpable and measurable nodes by physical exam and/or organomegaly assessed by physical exam)
  -  with or without 17p deletion or TP53 mutation
  -  may have been previously treated with a prior B-cell receptor inhibitor therapy
  -  Adequate bone marrow function.
  Exclusion Criteria:
  -  Participant has developed Richter's transformation or Prolymphocytic leukemia (PLL).
  -  Participant has previously received venetoclax.
  -  History of active malignancies other than CLL within the past 2 years prior to first dose of venetoclax, with the exception of:
  -  adequately treated in situ carcinoma of the cervix uteri
  -  adequately treated basal cell carcinoma or localized squamous cell carcinoma of the skin
  -  previous malignancy confined and surgically resected (or treated with other modalities) with curative intent.
  -  Active and uncontrolled autoimmune cytopenias (within 2 weeks prior to screening), including autoimmune hemolytic anemia (AIHA) or idiopathic thrombocytopenic purpura (ITP), despite low dose corticosteroids.
  -  Prior allogeneic stem cell transplant.

Relevance to patient case: not relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

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: definitely relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

Clinical trial: The p53 Colorectal Cancer Trial

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


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

Relevance to patient case: not relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

Clinical trial: Healing Effects of Autologous Platelet Rich Plasma on Gastric Ulcer Caused by Endoscopic Submucosal Dissection

Summary: In Korea, where the prevalence of gastric tumors is high, the use of ESD as a treatment for gastric cancer will continue to increase. Considering that there are no special measures to prevent side effects (bleeding, perforation, etc.) of this procedure, it is possible to reduce the large medical costs through the discovery of substances that can promote gastric mucosal healing. Mechanism of PRP-based materials in the regeneration of gastric mucosal damage can be used to understand the pathophysiology of ulcers. In the future, it can be suggested as a new treatment for gastrointestinal tract damage such as intractable ulcer, perforation, mucosal fistula, gastrointestinal bleeding caused by esophagus, small intestine and large intestine as well as ulcer treatment by endoscopic procedure.

Detailed description: Background:In Korea, where the prevalence of gastric tumors is high, the use of ESD as a treatment for gastric cancer will continue to increase. Considering that there are no special measures to prevent side effects (bleeding, perforation, etc.) of this procedure, it is possible to reduce the large medical costs through the discovery of substances that can promote gastric mucosal healing. Platelet-rich plasma (PRP) has demonstrated efficacy in preclinical endoscopic resection models.
  Aim: Evaluate the efficacy of PRP on participants submitted to ESD.
  Material and Methods: The investigators have evaluated a prospective clinical study. The investigators have included 10 participants submitted to ESD. Patients were informed and accepted to participate with a written consent. Prior to endoscopy PRP was obtained from autologous blood with a commercial kit. Resection was performed with standard technique. Immediately after the procedure, autologous PRP is applied to the artificial gastric ulcer using endoscopic spray. Participants were followed-up after the procedure.

Eligibility: Inclusion Criteria:
  -  Endoscopic lesion submitted to endoscopic resection (ESD)
  Exclusion Criteria:
  -  Ineligibility to endoscopic resection
  -  Patients who declined to participate in this study
  -  Patients who had hematologic diseases

Relevance to patient case: not relevant
Patient case: 70-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (V654A)

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