araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: Detection of CF-DNA in Patients With Gastrointestinal Stromal Tumors (GIST)

Summary: Activating mutations of the kinases CKIT or PDGFRA can be detected in 90% of cases by DNA sequence analysis of a pathological specimen. These mutated genomic DNA fragments are highly specific for the tumor and are released by the tumor into the circulation. Allele-specific PCR can be used to specifically amplify and quantify mutated CKIT and PDGFR DNA fragments.
  The current trial aims to evaluate whether tumor DNA carrying mutations for CKIT and PDGFRA can be detected and quantified in the plasma of patients with active GIST, and whether detection can be correlated with the clinical course of disease either under therapy or in progressive disease irrespective of current therapy.


Eligibility: Inclusion Criteria:
  -  Signed written informed consent
  -  Male or female patients aged >= 18 years
  -  Histologically confirmed GIST
  -  Known activating mutation of CKIT or PDGFRA and tissue sample can be provided for central mutation analysis or mutation status unknown and tissue sample can be provided for central mutation analysis at baseline
  -  Routinely planned follow-up visits in no longer than three months intervals (+ 14 days) including local standard of care diagnostic imaging (CT, PET- CT, or MRI)
  -  At least one GIST lesion that can be measured by CT, PET-CT, or MRI
  -  Planned surgery of one or more disease manifestations or planned TKI treatment (such as imatinib or sunitinib) in neoadjuvant or palliative intention or disease progression irrespective of current/planned treatment
  -  Life expectancy of at least three months
  Exclusion Criteria:
  -  Wild type sequence for CKIT exon 9, 11, 13, 14, 17, 18 and PDGFRA exon 18
  -  Tissue sample can not be provided for central mutation analysis
  -  Surgery of primary or progressive lesions already completed and currently no evidence of progressive lesions
  -  Patients currently receiving adjuvant TKI treatment after surgery and no evidence of progressive lesions
  -  Patients currently receiving palliative TKI treatment and no evidence of progressive lesions
  -  Planned follow-up intervals including CT, PET-CT or MRI at more than three months intervals (+ 14 days)
  -  Coexisting medical condition or treatment that could interfere with the ability of the patient to comply with planned treatment interventions (surgery or TKI treatment) or regular follow-up visits
  -  Patients unwilling to or unable to comply with the planned therapeutic intervention (surgery or TKI treatment) or to comply with the regular follow-up visits including blood sample collection
  -  Pregnancy and lactation
  -  Presence of chronic inflammatory diseases, autoimmune diseases, or liver cirrhosis
  -  Known HIV and/or hepatitis B or C infection
  -  Other malignancies within the past 3 years except for adequately treated carcinoma of the cervix and basal or squamous cell carcinoma of the skin

Relevance to patient case: possibly relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

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: possibly relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: Phase ll Study of Imatinib Mesylate for the Neoadjuvant Treatment of Patients With Gastrointestinal Stromal Tumors (GIST)

Summary: This study will evaluate the efficacy, safety, tolerability of imatinib in the neoadjuvant treatment (pre-operatory) of patients with GIST. It will also evaluate the potential of imatinib to convert a tumor from inoperable to operable.


Eligibility: Inclusion Criteria:
  -  patients with age between 18 and 80 years
  -  diagnosis of GIST not previously treated
  -  Patients will be included in the protocol regardless of operability; in the case of an operable tumor, patients are eligible if, in the opinion of the surgeon, resection would be suboptimal, disfiguring or functionally disabling (i.e. incomplete resection or other which cold compromise severely the quality of life or other GI function)
  Exclusion criteria:
  -  presence of metastatic disease
  -  use of other antineoplastic treatment (chemotherapy, immunotherapy, radiotherapy)
  Other protocol-defined inclusion/exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

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: not relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: A Phase 2 Study to Evaluate Efficacy and Safety of Masitinib in Comparison to Sunitinib 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: possibly relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

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: possibly relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

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: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: Impact of the BB Box System on Postpartum Maternal Anxiety, Post Traumatic Stress and Mother-child Relationships

Summary: The main objective of this study is to compare the degree of maternal anxiety at Day 3 postpartum in mothers who did or did not have access to a video communication system (BB-Box system) from the time of initial separation with their baby.

Detailed description: The secondary objectives of the study are to compare the following between the two arms of the study:
  A. The degree of postpartum maternal anxiety at day 1, day 7 and at hospital discharge. Anxiety will be compared point by point but also via kinetics.
  B. The incidence maternal post traumatic stress disorder at 6 and 12 months.
  C. The incidence of mother-child relationship disorders at 6 and 12 months.
  D. Infant vital signs during the hospital stay.

Eligibility: Inclusion Criteria:
  -  The patient must have given his/her informed and signed consent
  -  The patient must be insured or beneficiary of a health insurance plan
  -  The patient is available for 12 months of follow up
  -  The patient has given birth this day to a premature child (< 36 weeks of gestation and/or < 2 kg birthweight)
  -  Separation of child and mother since birth
  Exclusion Criteria:
  -  The patient or baby is participating in another study, excepting the studies "OASIS" or "PROM8736"
  -  The patient or baby is in an exclusion period determined by a previous study
  -  The patient is under judicial protection, under tutorship or curatorship
  -  The patient or father refuses to sign the consent
  -  It is impossible to correctly inform the patient
  -  Preexisting maternal psychiatric pathology
  -  Major or lethal poly-malformation syndrome
  -  Severe pathologies that threaten child survival: pulmonary hypertension, septic shock, anoxic-ischemic brain
  -  Any emergency situation preventing patient involvement
  -  Mother and/or child not hospitalized at the Nîmes University Hospital
  -  Death of the patient or child during the study

Relevance to patient case: not relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: Studying Genes in Samples From Younger Patients With Ovarian or Testicular Sex Cord Stromal Tumors

Summary: RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors identify biomarkers related to cancer.
  PURPOSE: This research trial is studying genes in tumor samples from younger patients with ovarian or testicular sex cord stromal tumors.

Detailed description: OBJECTIVES:
  -  To assess the role of DICER1 mutations and miRNA pathways in the etiology and progression of ovarian or testicular sex cord stromal tumors.
  OUTLINE: Archived tumor tissue samples are analyzed for D1CER1 mutation and mRNA expression by reverse-transcriptase polymerase chain reaction (RT-PCR) and laser micro dissector. Results are then correlated with medical data, including age at diagnosis, diagnosis, pathology report, presenting symptoms, family history, treatment, outcome, and length of follow-up, when available.

Eligibility: DISEASE CHARACTERISTICS:
  -  Fixed and frozen tissue samples from the ATBR01 B1 tissue bank and from the International Pleuropulmonary Blastoma Registry, Children's Hospital of Boston, and Massachusetts General Hospital
  -  Tissue samples from patients diagnosed with:
  -  Ovarian
  -  Sertoli-Leydig cell tumor
  -  Juvenile granulosa cell tumor
  -  Adult granulosa cell tumor
  -  Gynandroblastoma
  -  Sex cord stromal tumor with annular tubules
  -  Sex cord stromal tumor, undifferentiated
  -  Sertoli tumor
  -  Leydig tumor
  -  Testicular:
  -  Granulosa cell tumor
  -  Sertoli tumor
  -  Leydig tumor
  -  Sertoli-Leydig
  -  Undifferentiated stromal tumor
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

Clinical trial: Continuation of Drug Supply in Chinese Patients After CAMN107DBR01study Termination

Summary: Continuation of drug supply in Chinese patients after CAMN107DBR01study termination.

Detailed description: Five patients who are on treatment of imatinib and deriving clinical benefit after CAMN107DBR01 study termination and written informed consent obtained will enter the trial, all five patients will receive Glivec (8oomg per day) treatment until tumor progression [by RECIST guidelines, version 1.0], unacceptable toxicity, death or withdrawal of consent.

Eligibility: Inclusion Criteria:
  -  Five patients who are on treatment of imatinib and deriving clinical benefit after CAMN107DBR01 study termination and written informed consent obtained.
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 49-year-old female with Gastrointestinal stromal tumor. Genetic variant: KIT Exon 9 (A502_Y503dup). Other conditions: None.

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