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: Study of AMN107 With Imatinib in Gastrointestinal Stromal Tumors (GIST)

Summary: This study is an open-label, multicenter, Phase I dose-escalation study of the combination of AMN107 and imatinib (STI571) in patients with imatinib-resistant GIST. This study is designed to determine the Phase II dose of AMN107 and imatinib when administered together in patients with imatinib-resistant GIST, and to characterize the safety, tolerability and pharmacokinetic (PK) profile of this combination.


Eligibility: Inclusion Criteria:
  -  Patients with gastrointestinal stromal tumor (GIST).
  -  Patients who have had disease progression during imatinib therapy with 800 mg.
  -  Ability to understand and willingness to sign a written informed consent document.
  Exclusion Criteria:
  -  Patients with prior or concomitant malignancies other than GIST with the exception of previous or concomitant basal cell skin cancer or previous cervical carcinoma in situ.
  -  A history of impaired cardiac function or uncontrolled cardiovascular disease.
  -  Severe and/or uncontrolled concurrent disease that could cause unacceptable safety risks such as impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of AMN107.
  -  Currently taking certain medications that could affect an electrocardiogram result.
  -  Women who are pregnant or breast feeding.
  -  Patients unwilling or unable to comply with the protocol.
  NOTE: Additional inclusion and/ or 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: Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes

Summary: This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the effect on the malignancy.

Detailed description: Condition
  Diverse malignancies either associated with or thought to be associated with activated tyrosine kinase enzymes including hypereosinophilic syndrome systemic mastocytosis chronic myelomonocytic leukaemia, dermatofibrosarcoma protuberans and other diseases.
  Not included:
  Patients with chronic myeloid leukemia, some other types of leukemias (abl-mutated) some types of gastrointestinal stromal tumours (c-KIT-positive), some systemic mastocytosis (if c-KIT D816V mutation), brain, prostate, breast or lung cancers.

Eligibility: Inclusion Criteria:
  1. Malignancy likely related to an activated tyrosine kinase enzyme sensitive to imatinib mesylate.
  2. Spread of the disease to the rest of the body (confirmed by tissue sample) beyond the skin.
  3. Malignant tissue showing activation of certain tyrosine kinases (ABL, ARG, KIT (CD117), or PDGF-R alpha or beta) & preferably within 6 weeks of entry.
  Exclusion Criteria:
  1. Certain leukaemias (abl-mutated), some gastrointestinal stromal tumours (c-KIT-positive) or certain systemic mastocytosis (if c- KIT D816V mutation).
  2. A primary prostate, breast, lung or brain tumour,
  3. Patient has previously been treated with imatinib mesylate except where treatment was more than 6 months previously and there is no suggestion of clinical resistance nor lack of response.
  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: Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors (GIST)

Summary: This is a multicenter, post-marketing, clinical study evaluating the safety and efficacy of postoperative adjuvant therapy with Imatinib Mesylate in high-risk patients after curative resection of newly diagnosed GIST.Patients will be evaluated for relapse -free survival as measured by the confirmation of tumor recurrence and survival for 3 years after surgery for their primary tumors.


Eligibility: Inclusion Criteria:
  -  underwent macroscopically curative resection;
  -  immunohistochemically confirmed KIT (CD117)-positive tumors;
  -  judged as being high-risk according to the criteria for risk classification
  Exclusion Criteria:
  -  synchronous double cancer or metachronous double cancer with a disease-free period of ≤5 years;
  -  received therapy with Imatinib Mesylate prior to study entry;
  -  cardiac problem of Grade 3 or higher (New York Heart Association (NYHA) criteria)
  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: Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation

Summary: Osteodysplasia or poorly formed bones, "brittle bones" is a genetic disease with no known proven treatments. Some forms of osteodysplasia may cause severe disability and even death.
  Eligible patients were limited to those children with Osteodysplasia who had undergone a previous allogeneic bone marrow transplant at St. Jude. The study intervention involved an infusion of a specified number of ex vivo expanded stromal cells obtained from the bone marrow of the same donor from whom they received their primary transplant procedure. These bone marrow stromal cells can become bone-forming cells, called osteoblasts. Participants then received 2 infusions of ex vivo expanded, gene marked cells not less than 6 months after bone marrow transplantation. The second cell infusion occurred between 14 to 21 days after the first infusion in the absence of toxicity. The goal of the study was to evaluate the safety and toxicity of these infusions.

Detailed description: -  To determine whether these ex vivo expanded, gene marked marrow stromal cells will engraft in the recipient's bone, bone marrow, and/or skin.
  -  To begin to investigate whether high proliferative mesenchymal progenitor cells can be expanded ex vivo and retain their progenitor potential in vivo.
  -  To begin to investigate whether ex vivo expanded bone marrow stromal cells can ameliorate the skeletal dysplasias associated with various genetic disorders.

Eligibility: Inclusion Criteria:
  -  Patients with an appropriate genetic disorder who have had an allogeneic bone marrow transplant and currently maintain complete or mixed hematopoietic chimerism
  -  Patient must be < or equal to 18Kg
  Exclusion Criteria:
  -  Presence of infection
  -  Presence of GVHD (graft versus host disease)or the need for prophylaxis
  -  Concurrent participation in any investigational study that could potentially confound the interpretation of the safety parameters being investigated in this 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: Phase II Clinical Study of Imatinib Mesylate in Patients With Malignant Gastrointestinal Stromal Tumors (Extension Study)

Summary: This is a extension study of CSTI571B1201 study


Eligibility: Inclusion Criteria:
  - Patients who completed the CSTI571B1201 study
  Exclusion Criteria:
  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: A Study of the Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit Gene

Summary: In the core study, participants with unresectable or metastatic gastrointestinal stromal tumors expressing c-kit were treated with either 400 mg or 600 mg imatinib mesylate for 3 years. The 10 year extension study allowed participants, who successfully completed the core study, to continue study treatment with imatinib mesylate provided they still benefited from treatment and did not demonstrate safety concerns as per the investigator's opinion.


Eligibility: Inclusion Criteria:
  -  Men and non-pregnant women ≥18 years of age with the histopathologically documented diagnosis of malignant GIST that was unresectable and/or metastatic. Confirmation of KIT (CD117) expression via immunohistochemical analysis of tumor sample was also required
  -  At least one measurable lesion, as defined by Southwestern Oncology Group (SWOG) Solid Tumor Response Criteria, which had not been previously embolized or irradiated
  -  Performance status ≤3 as defined by the Eastern Cooperative Oncology Group (ECOG) criteria, as well as a life expectancy ≥6 months and adequate end organ function defined as follows: Total bilirubin <1.5 times upper limit of normal (ULN), aspartate aminotransferase (SGOT) and alanine aminotransferase (SGPT) <2.5 x ULN (or <5 x ULN if hepatic metastases were present), creatinine <1.5 x ULN, absolute neutrophil count (ANC) >1.5 x 10^9/L, platelet count >100 x 10^9/L
  Exclusion Criteria:
  -  Patients with fewer than five years of disease-free survival from any other (non-GIST) malignancy except if the other malignancy was not currently clinically significant and did not require active intervention or if the other malignancy was a basal cell skin cancer or a cervical carcinoma in situ
  -  Patients with known brain metastases
  -  Evidence of any of the following disorders: Grade III/IV cardiac failure as defined by the New York Heart Association Criteria, severe concomitant disease, acute or known chronic liver disease (i.e. chronic active hepatitis, cirrhosis) or HIV infection
  -  Chemotherapy or other investigational therapy within four weeks prior to study entry (six weeks for nitrosourea or mitomycin-C) and/or radiotherapy to ≥25% of the bone marrow
  -  Inability to cooperate
  -  Major surgery within two weeks or exposure to other investigational agents within 28 days of entry into the study
  Other protocol-defined inclusion / exclusion criteria may have applied.

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: Evaluate the Efficacy of AMG 706 to Treat Advanced Gastrointestinal Stromal Tumors

Summary: The purpose of the study is to evaluate the safety and efficacy of AMG 706 in patients with gastrointestinal stromal tumor that have not been controlled while taking imatinib mesylate.


Eligibility: Inclusion Criteria:
  -  Diagnosis of histological confirmed GIST
  -  Had prior imatinib mesylate therapy
  -  Has at least 1 measurable leasion by modified RECIST
  Exclusion Criteria:
  -  Central nervous system tumor involvement requiring treatment
  -  History of myocardial infraction
  -  Uncontrolled hypertension

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: Safety Study of IPI-504 in Patients With Gastrointestinal Stromal Tumors (GIST) or Soft Tissue Sarcomas (STS)

Summary: The primary objectives of the study are:
  -  Determine the safety and maximum tolerated dose (MTD) of IPI-504 in GIST and STS patients who have failed prior therapies
  -  Recommend a dose for subsequent studies of IPI-504

Detailed description: IPI-504 is a novel, water-soluble analog of 17-AAG and a potent inhibitor of Hsp90. Hsp90's role in the cell is to control the proper folding, function, and viability of various "client" proteins. Many of these client proteins (such as AKT, Her-2, Bcr-Abl, PDGFR-α, and c-Kit) are oncoproteins or important cell signaling proteins. In patients with GIST, mutations in the tyrosine kinase receptor Kit play a critical role in the pathogenesis of this disease. Inhibition of Kit signaling with the tyrosine kinase inhibitor Imatinib (IM) is a very effective treatment for GIST patients. However, new mutations arise in Kit conferring resistance to IM treatment which results in disease progression. Kit is a client protein of Hsp90 and is sensitive to IPI-504. In Soft Tissue Sarcomas, there may be genetic abnormalities that lead to the expression of certain proteins that drive the growth of cancer. These cancer-driving proteins may be stimulated by HSP90. This provides a scientific rationale for Phase 1 clinical testing of IPI-504 in patients with advanced GIST and STS who have failed prior therapies.

Eligibility: Inclusion Criteria:
  -  Pathologically confirmed diagnosis of GIST or STS
  -  Failed prior therapies
  -  ECOG performance status of 0-2
  -  Ability to adhere to the study visit schedule and all protocol requirements
  Exclusion Criteria:
  -  Previous treatment with 17-AAG, DMAG, or other known Hsp90 inhibitor
  -  Participation in any investigational drug study or treatment with any other kinase inhibitor therapy within 2 weeks preceding start of treatment
  -  Concurrent radiation therapy is not permitted
  -  Concurrent treatment with any agent that alters CYP3A activity
  -  Concurrent treatment with any agent that may prolong the QTc interval
  -  Myocardial infarction or active ischemic heart disease within 6 months
  -  History of arrhythmia
  -  Baseline QTc >450
  -  Grade 3 or greater peripheral neuropathy
  -  Renal insufficiency, serum creatinine >1.5 x ULN
  -  Platelets < 100,000 mm3
  -  AST and / or ALT > 2.5 x ULN
  -  ANC <1,500 cells/mm3
  -  Alkaline phosphatase > 2.5 x ULN
  -  Amylase and lipase > 1.5 x ULN
  -  Hemoglobin < 9.0 g/dL

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: Molecular Mechanisms and Diagnosis of Mastocytosis

Summary: Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not available as it is a rare disorder. Mastocytosis in children is generally limited to the skin and follows a self limited course, while it is a disorder of the hematopoietic stem cell associated with somatic mutations of the c-kit gene in most patients with adult-onset of disease. There is no known curative therapy for most patients with systemic mastocytosis. Recent research studies identified several subtypes of disease with distinct clinical and pathologic features, however, a precise understanding of the incidence as well as molecular pathology of different disease subtypes is lacking. This study aims to examine molecular and cellular pathological aspects of disease in patients with mastocytosis and correlate findings with clinical presentation and prognosis. Patients will undergo a routine history and physical examination, and diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of the c-kit gene regulating mast cell growth and differentiation will be performed. It is hoped that findings obtained from this study will help to design novel therapies for mastocytosis and other disorders in which mast cells play a critical role.


Eligibility: Inclusion Criteria:
  -  Confirmed or suspected diagnosis of mastocytosis.
  -  Ability to give informed consent (by the patient or legal guardian if minor)
  Exclusion Criteria:
  -  Inability or not willing to provide informed consent.

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: Safety And Effectiveness Of Daily Dosing With Sunitinib Or Imatinib In Patients With Gastrointestinal Stromal Tumors

Summary: A phase IIIb study of patients with gastrointestinal stromal tumors who have had progressive disease while on 400 mg imatinib. Patients will be randomly assigned to either sunitinib 37.5 mg daily or imatinib 800 mg daily. This study will find out the benefits and potential side effects of taking sunitinib or imatinib for approximately one year.

Detailed description: The study prematurely discontinued on July 27, 2009 due to poor recruitment and operational futility as a result of changes in clinical practice. There were no safety or efficacy concerns regarding the study in the decision to terminate the trial.

Eligibility: Inclusion Criteria:
  -  Patients with gastrointestinal stromal tumors whose disease has progressed on imatinib 400 mg daily.
  Exclusion Criteria:
  -  Current treatment with any chemotherapy other than imatinib.
  -  Current treatment with any dose of imatinib other than 400 mg

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: Patients Completing Core Protocol (CAMN107A2103), Exhibiting Stable Disease (SD), Partial Response (PR) or Complete Response (CR) to Nilotinib in Combination With Imatinib

Summary: To provide study drug to patients that benefit from treatment judged by the investigator - to obtain additional long-term safety and efficacy data of this combination regimen in GIST


Eligibility: Inclusion criteria:
  -  Documented Complete Response, Partial Response, or Stable Disease at the time of entry to extension study and/or possible benefit from continuing treatment in the view of the investigator.
  -  Normal organ and marrow function as defined in core protocol (CAMN107A2103).
  -  Extension protocol written informed consent.
  Exclusion criteria:
  -  Inability to swallow the medication.
  -  Any unresolved adverse events related to participation in the core protocol (CAMN107A2103).
  -  A history of noncompliance to medical regimens or inability or unwillingness to return for all scheduled visits.
  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: Post Marketing Surveillance Study To Observe Safety And Efficacy Of Sutene

Summary: To monitor use in real practice including adverse events and efficacy on Sutent capsules (Sunitinib malate)

Detailed description: All the patients prescribed according to approved indications at contracted institutions

Eligibility: Inclusion Criteria:
  -  Patients diagnosed as gastrointestinal stromal tumor (GIST) after disease progression on or intolerance to imatinib mesylate, or advanced renal cell carcinoma (aRCC) will be included in the study, or patients diagnosed as unresectable, well-differentiated advanced and/or metastatic pancreatic neuroendocrine carcinoma.
  Exclusion Criteria:
  -  Any patient who does not agree that Pfizer and companies working with Pfizer use his/her information will be excluded.
  -  Patients with hypersensitivity to sunitinib malate or to any other component of Sutent

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 I/II Study of Sunitinib Malate (SU011248) In Patients With Gastrointestinal Stromal Tumor (GIST)

Summary: Phase I;To investigate the clinically recommended dose of Sunitinib malate (SU011248) following multiple oral dosing in the first cycle (4 consecutive weeks and 2 weeks rest) by reviewing the safety and tolerability.
  Phase II;To determine the objective tumor response and the safety of Sunitinib malate (SU011248) at the clinically recommended dose.


Eligibility: Inclusion Criteria:
  -  Patients with histologically-confirmed metastatic or unresectable gastrointestinal stromal tumor (GIST).
  -  Patients previously treated with imatinib mesylate.
  Exclusion Criteria:
  -  Patients who have not recovered from the acute toxic effects of previous antineoplastic therapy or treatment with imatinib mesylate.
  -  Any tumor therapy for gastrointestinal stromal tumor (GIST) discontinued less than 4 weeks prior to starting study treatment. Imatinib mesylate discontinued less than 2 weeks prior to starting therapy.

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: Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib

Summary: In order to distinguish between clonal instability driven by imatinib in CML and actual changes with secondary clones induced by imatinib we would like to investigate the karyotype of non-CML patients treated with imatinib such as GIST patients.

Detailed description: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of the Philadelphia (Ph) chromosome - a t(9:22) translocation that results in the production of a BCR/ABL fusion protein with Abl kinase activity.
  Imatinib mesylate (Gleevec) specifically targets a limited set of protein tyrosine kinases - ABL, Arg (Abl-related gene), c-Kit, platelet-derived growth factor receptor (PDGF-R) - and their oncogenic forms, most notably BCR/ABL Imatinib is also a potent inhibitor of a receptor-type c-Kit tyrosine kinase. Therefore imatinib was examined for therapeutic efficacy against malignant gastro-intestinal stromal tumors (GIST) Recent articles have drawn attention to the development of new Ph-negative, cytogenetically unrelated clones after therapy of Ph-positive CML with imatinib. Trisomy 8 and monosomy 7 are the most frequent defects, but other aberrations have also been reported. Some of these cytogenetic abnormalities are associated with acute myeloid leukemia and MDS.

Eligibility: Inclusion Criteria:
  -  GIST patient on Imatinib for more than 12 months
  Exclusion Criteria:

Relevance to patient case: not relevant