araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Leuplin SR 11.25 mg Injection Kit Specified Drug-use Survey: "QOL Survey in Premenopausal Breast Cancer Patients"

Summary: The purpose of this survey is to examine the effect on quality of life (QOL) improvement and convenience of switching to leuprorelin acetate 3 months depot 11.25 milligram (mg) injection kit (Leuplin SR 11.25 mg injection kit) from a 4-week adjuvant therapy with a luteinizing hormone-releasing hormone analog (LH-RHa) 1 month depot over 48 weeks in premenopausal breast cancer participants in daily medical practice. Influence of condition of estrogen receptor expression on the efficacy and safety of leuprorelin acetate SR 11.25 mg injection kit was also evaluated.

Detailed description: This survey was designed to examine the effect on QOL improvement and convenience of switching to leuprorelin acetate 3 month depot 11.25 mg injection kit (Leuplin SR 11.25 mg injection kit) from a 4-week adjuvant therapy with a LH-RHa 1 month depot over 48 weeks in premenopausal breast cancer participants in daily medical practice, as well as to evaluate the influence of condition of estrogen receptor expression on the efficacy and safety of leuprorelin acetate SR 11.25 mg injection kit .
  For adults, leuprorelin acetate SR 11.25 mg injection kit (Leuplin SR 11.25 mg Injection Kit) is usually administered subcutaneously once every 12 weeks. Prior to injection, the plunger rod of the syringe is pushed upward with the needle pointed upward, allowing the entire suspension fluid contained to be transferred to the powder. The powder is then fully suspended in the fluid while ensuring that bubbles are not generated.

Eligibility: Inclusion Criteria:
  -  Premenopausal breast cancer participants who meet all the following criteria are to be enrolled in the surveillance:
  1. Participants who received 4 weeks of treatment with a repository LH-RHa preparation within 1 week prior to administration of Leuplin SR 11.25 mg Injection Kit.
  2. Participants receiving Leuplin SR 11.25 mg Injection Kit as adjuvant therapy.
  3. Participants with performance status grade of 0 or 1.
  4. Participants who answered all of the questions on the "QOL check sheet (I)" at the start (Week 0) of treatment with Leuplin SR 11.25 mg Injection Kit.
  Exclusion Criteria:
  -  Participants who meet any of the following criteria are to be excluded from the surveillance:
  1. Participants with a history of hypersensitivity to ingredient(s) in Leuplin SR 11.25 mg Injection Kit or synthetic derivatives of luteinizing hormone-releasing hormone (LH-RH) or LH-RH.
  2. Pregnant women, possibly pregnant women, and nursing mothers.
  3. Participants with advanced (T4 or M1 according to the TNM classification [General Rules for Clinical and Pathological Recording of Breast Cancer: 16th edition]) or recurrent breast cancer.

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: The Oncopanel Pilot (TOP) Study

Summary: The BCCA Oncopanel is a clinical assay being developed to determine genotype status of a prospectively defined set of genes.
  The purpose of this pilot study is to assess the feasibility and effect on clinical-decision-making of the Oncopanel test. Eligible patients are those with advanced lung, colorectal, melanoma and GIST cancers and patients with diagnosed malignancies being considered for clinical trials.

Detailed description: Somatic mutations in solid tumors represent an established means of characterizing malignancies for prognostic, diagnostic and therapeutic purposes. Mutations in EGFR, KRAS, BRAF, and KIT and PDGFRA genes direct therapy in patients with advanced lung, colorectal, melanoma, and GIST tumors, respectively. Known or novel mutations in other genes may also be of clinical significance but are not identified by current genotyping offered to BC Cancer Agency (BCCA) patients. Furthermore, numerous candidate genes have been implicated as potential prognostic and predictive biomarkers in patients with solid tumours. As such, the Oncopanel is a clinical assay being developed to determine genotype status of a prospectively defined set of genes. The following clinically relevant set of genes and exons are included in the Oncpanel: KRAS, EGFR, BRAF, NRAS and HRAS, PIK3CA Signal Transduction Pathway Genes, RAS-RAF-MEK-MAPK Pathway, HER2, IDH1 and IDH2, ALK, TP53, c-KIT, STAT1&3 and PDGFRA. Additional testing on the tumour material will also include analysis of specific gene variants associated with adverse events or response to therapy.
  Numerous studies have documented the presence of circulating tumour DNA (ctDNA) among patients with advanced and early stage malignancies (20-22). The ability to diagnose standard cancer mutations with a blood-based assay (a "liquid biopsy") has not yet been established but presents obvious advantages. The emergence of "resistance" mutations arising in the metastatic tumor or throughout the course of therapy is well documented (21, 22). A blood biopsy may represent more accurate determination of the tumor's genetic features than archival DNA specimen. Adequate tissue specimens can be difficult to obtain from some patients with diagnosed malignancies, particularly lung cancer. A blood biopsy may represent a less invasive and timelier means of diagnosing both standard and translational cancer mutations.

Eligibility: Patients with archival tumor tissue and a known history of invasive malignancies are eligible if they meet one or more of the following criteria:
  -  Advanced colorectal cancer and eligible for standard KRAS testing,
  -  Advanced non-small cell lung cancer and eligible for standard EGFR testing,
  -  Advanced melanoma and eligible for standard BRAF testing,
  -  Gastrointestinal stromal tumors (GISTs) eligible for standard c-KIT and PDGFRA testing,
  -  Being considered for potential eligibility in clinical trial.

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Non Invasive Detection of Lung and Breast Cancer by Odor Signature

Summary: The investigators have developed an early detection solution for lung and breast cancer. A system which can distinguish between different medical odors based on biosensors. Our product is user-friendly noninvasive, nonradioactive and nontoxic to the patients. The technology enables a high level of sensitivity and provides users with a quick lab response and a simple yes or no answer.
  The aim of this study is to contribute and detect the patient at the earliest possible stage, in a noninvasive, nonradioactive and nontoxic way. Exhaled breath and urine samples are a promising approach towards future possible lung and breast cancer screening method.

Detailed description: Early detection of cancer can dramatically improve the survival chances. to date, there is no efficient diagnostic tool for detection of lung cancer in early stages. Regarding breast cancer, the common screening tool us mammography, which suffer from low sensitivity and high false positive. Thus, there is an urgent need for developing a screening tool for early stages lung and breast cancer.
  The sense of smell depends on the ability of specialized sensory cells of the nose to perceive volatile compounds (VOCs). Diseases such as infections and malignancies can be associated with changes in host metabolism, accompanied by production of different VOCs, and thus a different odor. Several studies have shown that different cancers secrete different VOCs, thus produce different smell.
  We have developed a system which uses biosensors that can scent the VOCs that lung and breast cancer cell produce, thus distinguish between healthy control and lung or breast cancer. These biosensors can detect low stages lung and breast cancer.
  Patients will supply urine samples and exhaled breath samples using a kit that we will supply. The samples will be shipped to our lab, where they will be processed and the VOCs will be separated from the head space of the samples. The biosensors will be exposed to the VOCs samples and will report whether the specific sample id cancerous (lung or breast) or not.
  The Data will be collected from all samples and statistical analysis will be calculated, in order to test the specificity and sensitivity of our biosensors to detect cancerous samples.

Eligibility: Inclusion Criteria:
  -  Diagnosed Lung Cancer patients
  -  Diagnosed Breast Cancer patients
  Exclusion Criteria:
  -  Cancer patients who were treated using chemotherapy
  -  Cancer patients who were treated using radiation
  -  Cancer patients who were treated using biological treatments
  -  Cancer patients who were treated with chemotherapy
  -  Cancer patients who were treated with any anti- cancer therapies
  -  Cancer patients who use drugs that affect the immune system

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Phase 1/1b Study of MGCD516 in Patients With Advanced Cancer

Summary: MGCD516 is a receptor tyrosine kinase (RTK) inhibitor shown in preclinical models to inhibit a closely related spectrum of RTKs including MET, AXL, MER, and members of the VEGFR, PDGFR, DDR2, TRK and Eph families. In this study, MGCD516 is orally administered to patients with advanced solid tumor malignancies to evaluate its safety, pharmacokinetic, metabolism, pharmacodynamic and clinical activity profiles.
  During the Phase 1 segment, the dose and regimen of MGCD516 will be assessed; during the Phase 1b segment, the clinical activity of MGCD516 will be evaluated in selected patient populations.
  Patients anticipated to be enrolled in Phase 1b will be selected based upon having a tumor type, including but not limited to, non small cell lung cancer and head and neck cancer positive for specific activating MET, NTRK2, NTRK3, or DDR2 mutations, MET or KIT/PDGFRA/KDR gene amplification, selected gene rearrangements involving the MET, RET, AXL, NTRK1, or NTRK3 gene loci, or having loss of function mutations in the CBL gene. In addition patients with clear cell renal cell carcinoma refractory to angiogenesis inhibitors or metastatic prostate cancer with bone metastasis will be enrolled.

Detailed description: During the Phase 1 segment, the dose and regimen of MGCD516 will be assessed.
  During the Phase 1b segment, the clinical activity of MGCD516 will be evaluated in selected patient populations. Patients anticipated to be enrolled in Phase 1b will be selected based upon the following cancer diagnosis:
  Non-small cell lung cancer with genetic alterations in MET, AXL, RET, TRK, DDR2, KDR, PDGFRA, KIT or CBL.
  Head and neck squamous cell carcinoma with genetic alterations in MET.
  Clear cell renal cell carcinoma refractory to angiogenesis inhibitors.
  Metastatic prostate cancer with bone metastases.
  Other cancer diagnosis having a selected genetic alteration in MGCD516 target RTKs.

Eligibility: Inclusion Criteria:
  -  Metastatic or unresectable solid tumor malignancy
  -  Standard treatment is not available
  -  Adequate bone marrow and organ function
  Exclusion Criteria:
  -  History of a significant cardiovascular illness
  -  Prolonged corrected QT (QTc) interval
  -  Left ventricular ejection fraction < 40%
  -  Symptomatic or uncontrolled brain metastases
  -  Other active cancer

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Clinical Trial of Quantitative Detection Kit for Hsp90α in Colorectal Cancer

Summary: Detect plasma Hsp90α concentration of colorectal cancer patients, healthy volunteers, benign colorectal diseases patients.

Detailed description: Detect plasma Hsp90α concentration of colorectal cancer patients, healthy volunteers, benign colorectal diseases patients, validate accuracy, specificity and sensitivity of Hsp90α kit.

Eligibility: Inclusion Criteria:
  -  colorectal cancer patients, healthy volunteers, benign colorectal diseases patients
  Exclusion Criteria:
  -  Patients who previously accepted radiotherapy

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Clinical Trial of Quantitative Detection Kit for Hsp90α in Hepatic Cancer

Summary: Detect plasma Hsp90α concentration of liver cancer patients, healthy volunteers, benign liver diseases.

Detailed description: Detect plasma Hsp90α concentration of liver cancer patients, healthy volunteers, benign liver diseases, validate accuracy, specificity and sensitivity of Hsp90α kit.

Eligibility: Inclusion Criteria:
  -  Liver cancer patients
  -  Healthy volunteers,
  -  Benign liver diseases patients
  Exclusion Criteria:
  -  Patients who Previously accepted radiotherapy

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

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: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Patients With Refractory, Metastatic Cancer Harboring KIT Mutation or Amplification to Investigate the Clinical Efficacy and Safety of Imatinib Therapy

Summary: KIT is a receptor tyrosine kinase that binds to stem-cell factor (SCF), activating a series of downstream effector pathways. KIT is an established therapeutic target in cancer with activating mutations of KIT, such as gastrointestinal stromal tumors (GIST), and significant benefit is achieved with various small molecule inhibitors of KIT such as imatinib mesylate. Moreover, there is increasing evidence implicating KIT mutations as tractable therapeutic targets in melanoma. Additional information is required to characterize the functional role of low-frequency mutations in KIT and to determine whether amplification of wild type KIT is a real driver that can be targeted therapeutically. Except GIST and melanoma, other solid cancers were reported to have KIT mutation even in low frequency. A molecular profiling of the tumors of patients referred to the phase I clinic at the M.D. Anderson Cancer Center showed KIT mutation in 7 patients in total of 431 patients (2%).
  Hence, the investigators planned this study to apply the molecularly targeted agent, imatinib to various types of cancers harboring KIT mutation or amplification.


Eligibility: Inclusion Criteria:
  1. age ≥ 20
  2. advanced, refractory cancer patients who failed standard of care (SOC)
  3. KIT aberration: defined as mutation in exons 9, 11, 13, 17 or 18, or nanostring CNV by quantitative PCR (greater than 3 copies) or subject with specific sensitivity (Z-score<-1) to imatinib by Avatar scan whose disease has progressed following standard therapy or that has not responded to standard therapy or for which there is no standard therapy
  4. ECOG performance status of 0~2
  5. measurable or evaluable lesion per RECIST 1.1 criteria
  6. adequate marrow, hepatic, renal and cardiac functions
  -  Serum aspartate transaminase (AST) and serum alanine transaminase (ALT) ≤ 2.5 x upper limit of normal (ULN), or AST and ALT ≤ 5 x ULN if liver function abnormalities are due to underlying malignancy
  -  Total serum bilirubin ≤ 1.5 x ULN
  -  Absolute neutrophil count(ANC) ≥ 1,500/uL
  -  Platelets ≥ 100,0000/uL
  -  Hemoglobin ≥ 9.0 g/dL
  7. provision of a signed written informed consent
  Exclusion Criteria:
  1. severe co-morbid illness and/or active infections
  2. pregnant or lactating women
  3. history of major surgery or radiotherapy within 4 weeks
  4. active CNS metastases not controllable with radiotherapy or corticosteroids (however, CNS metastases (except for leptomeningeal seeding) are allowed if controlled by gamma knife surgery or surgery or radiotherapy or steroid)
  5. known history of hypersensitivity to study drugs

Relevance to patient case: possibly relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: The Significance of Blood-tryptase and c-Kit Mutation in Insect Venom Immunotherapy

Summary: The investigators wish to evaluate the association between tryptase values as well as c-Kit mutation and adverse effects in the course of immunotherapy. The investigators also intend to assess the effect of immunotherapy on tryptase levels.

Detailed description: According to the presently available reports there is an association between systemic allergic responses to hymenoptera venom and elevated tryptase levels or c-Kit mutation. The presence of these findings may imply the existence of mast cell activation syndrome or mastocytosis. Therefore, baseline tryptase evaluation has become standard evaluation in patients with systemic responses. Meir Medical Center is the only hospital in Israel in which tryptase can be measured. Consequently, the Meir Clinic has accumulated considerable data with regards to tryptase levels in subjects with allergy to hymenoptera venom. The investigators wish to evaluate the association between tryptase values as well as c-Kit mutation and adverse effects in the course of immunotherapy. The investigators also intend to assess the effect of immunotherapy on tryptase levels.

Eligibility: Inclusion Criteria:
  -  history of systemic response to hymenoptera sting.
  -  subject under current or planned venom immunotherapy.
  Exclusion Criteria:
  -  previously diagnosed mast cell disorder

Relevance to patient case: not relevant
Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)

Summary: BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42 months (3,5 years) with mutated TP53 mutation detection and circulating tumor cells detection (CTC) performed at each hospital visit (for technical reason only patients included at Institut Curie will be proposed to participate to the CTC substudy).


Eligibility: Inclusion Criteria:
  1. Patient with no evidence of any invasive tumor mass at inclusion (clinical and, if any, radiological exams)
  2. Carriers of known germline BRCA1 deleterious mutation (a personal history of cancer is NOT mandatory).
  3. Age ≥ 30 years for patient with personal previous history of cancer
  4. Age ≥ 40 years for patient without personal previous history of cancer
  5. Patient who a follow-up visit is scheduled in the including center at least once a year
  6. Patient having health care insurance
  7. Signed informed consent by patient
  Exclusion Criteria:
  1. Patient presenting with invasive tumor masses (e.g. stage IV cancer or localized cancer not yet surgically removed)
  2. Carriers of germline BRCA1 variant of unknown significance
  3. Carriers of germline BRCA2 deleterious mutation or variant
  4. Individuals with a low risk of BRCA1-related tumor growth, i.e. women who underwent prophylactic bilateral mastectomy AND adnexectomy.
  5. Any medical or other condition that in the Investigator's opinion rendered the patient unsuitable for this study
  6. Patient deprived from ability to decide on her own.
  7. Patient unable to have a regular follow up for geographical, social or psychological reasons.

Relevance to patient case: not relevant