araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Efficacy and Safety of Dovitinib in Patients With Gastrointestinal Stromal Tumors Refractory and/or Intolerant to Imatinib

Summary: The purpose of this study is to evaluate the efficacy and safety of Dovitinib in patients with gastrointestinal stromal tumors refractory and/or intolerant to Imatinib


Eligibility: Inclusion Criteria:
  -  Histologically confirmed GIST of any anatomical location, which is 1) unresectable and/ or metastatic with documented disease progression while on therapy with imatinib or 2) surgically removed localized GIST, recurrent on adjuvant imatinib or recurrent within the first 3 months after discontinuation of adjuvant imatinib or 3) patients with unresectable and/or metastatic GIST intolerant to imatinib
  -  Positive immunohistochemical staining for c-KIT (CD117); or negative staining for KIT, but with either positive staining for DOG1 or an identified mutation of KIT or PDGFRA gene
  -  Documented disease progression according to RECIST (version 1.1) on prior therapy with imatinib at a dose of at least 400mg/day or patients with unresectable and/or metastatic GIST who are intolerant to imatinib
  -  At least one measurable GIST lesion according to RECIST (version 1.1).
  -  Adequate bone marrow, liver and renal function
  Exclusion Criteria:
  -  Patients who have received any other tyrosine-kinase inhibitor but imatinib for GIST
  -  Patients who received cytotoxic drugs ≤ 4 weeks prior to starting Dovitinib (TKI258)
  -  Patients who are treated or planned to be treated concomitantly with other cytotoxic or antineoplastic treatments, such as chemotherapy, immunotherapy, biological response modifiers, or radiotherapy
  -  Patients with another primary malignancy within 3 years prior to starting the study drug
  -  Patients who have undergone major surgery (e.g. intra-thoracic, intra-abdominal or intra-pelvic) ≤ 4 weeks prior to starting Dovitinib (TKI258) or who have not recovered from the adverse effects of such therapy
  -  Patients with a history of pulmonary embolism (PE), or untreated deep venous thrombosis (DVT) within the past 6 months
  -  Patients with impaired cardiac function or clinically significant cardiac diseases
  -  Patients with impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of Dovitinib
  -  Patients with prior complete gastrectomy
  -  Patients with brain metastasis or history of brain metastasis
  -  Patients who are currently receiving anticoagulation treatment with therapeutic doses of warfarin or equivalent anticoagulant
  -  Pregnant or breast-feeding women
  Other protocol-defined inclusion/exclusion criteria may apply.

Relevance to patient case: definitely relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors

Summary: Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence. The great majority of relapses may be associated with secondary mutation in the GIST related genes. Full gene sequences of c-KIT、PDGFRA and DOG1, which is extracted from the specimen cells of repeated surgical resection or biopsy tissue in GIST patients with postoperative recurrence, are analyzed with the screening-sequencing approach, in order to investigate the characteristics and variations associated with the different gene mutations of c-KIT、PDGFRA and DOG1 in GIST patients and be likely to find out the evolutionary pattern, try to learn the facts about the effect of tyrosine kinase inhibitors on the GIST related genes, make a survey of any association of c-KIT、PDGFRA and DOG1 gene mutations and provide the basis for seeking molecular marker of GIST for monitoring course of disease, and offer a theoretical basis and new therapeutic strategies for application of clinical treatment.


Eligibility: Inclusion Criteria:
  -  patients with Gist at the Department of Gastrointestinal and Glands Surgery of the First Affiliated Hospital of Guangxi Medical University in China.
  Exclusion Criteria:
  -  patients with hepatitis and tuberculosis

Relevance to patient case: definitely relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Masitinib in Patients With Gastro-Intestinal Stromal Tumour Resistant to Imatinib

Summary: The objective is to compare efficacy and safety of masitinib at 12 mg/kg/day to sunitinib at 50 mg/day in treatment of patients with gastro-intestinal stromal tumor resistant to imatinib.


Eligibility: Inclusion Criteria:
  1. Histological proven, metastatic, or locally advanced and non-operable GIST
  2. Measurable tumor lesions with longest diameter ≥ 20 mm using conventional techniques or ≥ 10 mm with spiral CT scan according RECIST criteria
  3. C-kit (CD117) positive tumors detected immuno-histochemically and documented mutation of c-kit at any time if available
  4. Patients resistant to imatinib at dose of 400 mg/day
  Exclusion Criteria:
  1. Patient treated for a cancer other than GIST cancer within 5 years before enrolment, with the exception of basal cell carcinoma or cervical cancer in situ
  2. Patient with active central nervous system (CNS) metastasis or with history of CNS metastasis

Relevance to patient case: definitely relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Pazopanib in Advanced Gastrointestinal Stromal Tumors Refractory to Imatinib and Sunitinib

Summary: Patients with metastatic or locally advanced gastrointestinal stromal tumors (GIST) who develop resistance against the two hitherto approved drugs for this disease, the tyrosin kinase inhibitors (TKIs) imatinib and sunitinib, have a poor prognosis. Sometimes a further response may be achieved by other drugs, mainly other TKIs, which have been explored in different studies but not yet have been approved for clinical use. Pazopanib is a TKI inhibiting the tyrosin kinases KIT, PDGFRA, and VEGF 1-3, all of which have important roles in the pathogenesis of GIST. Theoretically, it may function in GIST, and it deserves investigational trials. The drug is approved for metastatic renal cancer and is relatively well tolerated. In this trial (SSG XXI), the disease control rate (DCR) = (CR+PR+SD) after 12 weeks of treatment will be assessed as the primary endpoint, and at the same time trough levels will be measured. Secondary endpoints include ORR, PFS, toxicity, and disease control rate in relation to trough level week 12 and in relation to the primary mutation of the tumor (if known). The goal is to include 72 patients in the trial, which is open and single arm.


Eligibility: Eligibility Criteria:
  -  Metastatic and/or locally advanced GIST, with diagnosis based on histology with positive c-kit and/or DOG-1, or with a GIST-typical mutation in KIT or PDGFR
  -  Measurable disease on CT (computed tomography) as defined by RECIST criteria; at least one measurable lesion not given radiotherapy
  -  History of progressive disease on CT according to RECIST criteria after both imatinib and sunitinib treatment, and also after nilotinib if this drug has been given
  -  No other TKIs given than imatinib, sunitinib and nilotinib
  -  Age at least 18 years at the time of diagnosis of GIST
  -  WHO performance status 0-2
  -  Resolution of all toxic side effects from earlier TKI treatment and any other potential non-TKI treatment to grade 1 or below
  -  Sufficient organ functions as defined in the protocol
  -  Absence of earlier or present certain other conditions as defined in the protocol
  -  No pregnancy or lactation
  -  Women with childbearing potential must accept the use of adequate contraception throughout the study period
  -  Written informed consent

Relevance to patient case: definitely relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

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: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: A Phase 2/ 3 Trial to Evaluate the Efficacy and Safety of BAY86-6150

Summary: Haemophilia is a disorder, usually genetic, affecting mostly male individuals, in which one of the proteins needed to form blood clots (FVIII) is missing or not present in sufficient levels. In a person with haemophilia, the clotting process is much slower and the person experiences bleeding episodes that can result in serious problems and potential disability.
  The current haemophilia standard of care is to maintain FVIII activity level above 1%. Sometimes, patients can develop antibodies (so called "inhibitors") against FVIII and it is no longer effective at controlling bleeds. Bleeds in these patients are currently treated using other proteins involved in the clotting process.
  The purpose of this study is to investigate how effectively BAY86-6150 may stop acute bleeds in "inhibitor" patients. This study consists of two parts, A and B. The purpose of part A is to find the most effective yet tolerable out of four doses of BAY86-6150 with regard to efficacy and safety (dose-finding part). Part A is expected to last 9 - 29 months. The purpose of part B is to confirm efficacy and safety of the dose found in part A in all participating patients (confirmatory part). Part B is expected to last 12-32 months.
  Approximately 60 male subjects 12 to 62 years-of-age with moderate or severe haemophilia A or B, with inhibitors to FVIII or FIX, who have had 4 or more bleeding episodes in the last 6 months, will participate in this study.
  Patient's bleeds will be treated with BAY86-6150 and with a rescue medication if no response is made to BAY86-6150. Patients will attend the treatment centre at regular intervals and be required to keep an electronic diary.


Eligibility: Inclusion Criteria:
  -  Male subjects
  -  12 to 62 years-of-age
  -  History of moderate or severe congenital hemophilia A or B with inhibitors to FVIII or FIX
  -  4 or more bleeding episodes in the last 6 months before enrollment.
  Exclusion Criteria:
  -  Clinically relevant coagulation disorder other than congenital hemophilia A or B with inhibitors
  -  History of coronary and/or peripheral atherosclerotic disease
  -  Disseminated intravascular coagulopathy, or stage 2 hypertension
  -  Angina pectoris
  -  Myocardial infarction
  -  Transient ischemic attack
  -  Stroke
  -  Congestive heart failure
  -  Thromboembolic event

Relevance to patient case: not relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Masitinib in Patients With Gastrointestinal Stromal Tumour After Progression With Imatinib

Summary: The objective is to compare the efficacy and safety of masitinib at 12 mg/kg/day to sunitinib at 50 mg/day in the treatment of patients with gastro-intestinal stromal tumor (GIST) after progression with imatinib.

Detailed description: Masitinib is a selective tyrosine kinase inhibitor with potent activity against wild-type c-Kit, the juxta membrane domain of c-Kit, and PDGFR. Masitinib is also thought to promote survival via modulation of immunostimulation-mediated anticancer effects and modulation of the tumor microenvironment. The objective is to compare the efficacy and safety of masitinib at 12 mg/kg/day with respect to sunitinib at 50 mg/day in the treatment of imatinib-resistant gastro-intestinal stromal tumor (GIST).

Eligibility: Main inclusion criteria include:
  -  Patient with histological proven metastatic GIST or non-operable locally advanced GIST
  -  Patient with c-Kit (CD117) positive tumor detected immuno-histochemically
  -  Patient after at least one progression with imatinib at a dose up to 800mg. Progression is defined as a RECIST 1.1 and/or CHOI disease progression while receiving imatinib treatment.
  Main exclusion criteria include:
  -  Patient treated for a cancer other than GIST within 5 years before enrolment, with the exception of basal cell carcinoma or cervical cancer in situ
  -  Patient with active central nervous system (CNS) metastasis or with history of CNS metastasis
  -  Pregnant, or nursing female patient

Relevance to patient case: definitely relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

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
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: ESTD vs. VATS for Upper Gastrointestinal Submucosal Tumors

Summary: The purpose of this study is to determine the efficacy and safety of endoscopic submucosal tunnel dissection (ESTD) compared with video-assisted thoracoscopic surgery (VATS) in the treatment of upper gastrointestinal submucosal tumors.

Detailed description: Most upper gastrointestinal submucosal tumors (SMTs), especially the gastrointestinal stromal tumors (GISTs) and leiomyoma, are regarded as benign if they are less than 3cm in size. Thus, it has been suggested that patients should receive periodic endoscopic follow-up in case of gradual changes in size; however this can be stressful and troublesome for patients. Nevertheless, some of these tumors do have a malignant potential, and management by periodic endoscopic surveillance may lead to delayed diagnosis of malignancy. Therefore, it is necessary to remove the SMTs.
  To date, several approaches have been used for the treatment of upper gastrointestinal SMTs, including open, thoracoscopic and laparoscopic surgery, and endoscopic approaches such as band ligation, endoscopic submucosal dissection (ESD), and endoscopic full-thickness resection (EFR). However, the surgical approaches are invasive with a longer hospital stay and greater cost, while the endoscopic approaches were limited by technical difficulty, incomplete resections and risk of perforation.
  Recently, the technique of peroral endoscopic myotomy (POEM) for esophageal achalasia was introduced, a procedure in which a submucosal tunnel is created to expose and dissect the circular muscle of the esophagus. Inspired by the POEM approach, we have successfully used a similar method, endoscopic submucosal tunnel dissection (ESTD), to resect SMTs in upper gastrointestinal.
  However, the long-term efficacy and safety of ESTD were not determined, and there was no prospective study compared the ESTD with other conventional approaches. Therefore, we plan to conduct this prospective randomized controlled trial, aim to determine the efficacy and safety of ESTD, compared with the pneumatic dilation, in the treatment of upper gastrointestinal SMTs originating from the muscularis propria layer .

Eligibility: Inclusion Criteria:
  -  Between 18 and 75 years of age
  -  Patient with upper gastrointestinal submucosal tumor
  -  Signed informed consent
  Exclusion Criteria:
  -  Severe cardio-pulmonary disease or other serious disease leading to unacceptable surgical risk
  -  Endoscopic ultrasound (EUS) or CT signs of metastasis
  -  Mega-oesophagus (greater than 7 cm) or Oesophageal diverticula in the distal oesophagus
  -  Previous oesophageal or gastric surgery
  -  Pregnancy or lactation women, or ready to pregnant women
  -  Not capable of filling out questionnaires

Relevance to patient case: not relevant
Patient case: 58-year-old male with gastrointestinal stromal tumor; genetic feature: KIT (exon 9 502_503 duplication)

Clinical trial: Long-term Use of Takepron on the Prevention of Recurrence of Gastric/Duodenal Ulcer in Patients Receiving Non-steroidal Anti-inflammatory Drugs

Summary: The purpose of this study is to investigate the safety and efficacy of long-term administration of lansoprazole (Takepron) therapy for up to 12 months in the routine clinical setting in patients receiving oral non-steroidal anti-inflammatory drugs (NSAIDs)

Detailed description: This is a special survey on long-term use (for up to 12 months) of lansoprazole (Takepron) to determine the incidence of adverse drug reactions in the routine clinical setting in patients receiving non-steroidal anti-inflammatory drugs (NSAIDs).
  The usual adult dosage is 15 mg of lansoprazole administered orally once daily.

Eligibility: Inclusion Criteria:
  -  (1) Patients with a history of gastric or duodenal ulcers (2) Patients requiring long-term use of NSAIDs for reasons such as pain management for rheumatoid arthritis or osteoarthritis (3) Patients taking oral NSAIDs at the start of administration of lansoprazole (including patients who start NSAIDs on the same day as the start of administration of lansoprazole)
  Exclusion Criteria:
  -  (1) Patients with gastric or duodenal ulcer (in the active [A1, A2] or healing [H1, H2] stage if assessed endoscopically) at the start of administration of lansoprazole (2) Patients with active upper gastrointestinal hemorrhage at the start of administration of lansoprazole (3) Patients with contraindications for lansoprazole

Relevance to patient case: not relevant