araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: A Phase II Study of Imatinib Versus Interferon as Adjuvant Therapy in KIT-mutated Melanoma

Summary: The purpose of this study is to compare the relapse free survival and overall survival of Imatinib (Gleevec) or high dose Interferon (Intron) in treating melanoma which has primary tumor and regional lymphonode (if have) removed in patients whose disease carries a c-kit mutation. It is assumed that Gleevec may be more effective on relapse free survival as the adjuvant treatment compared with Interferon.

Detailed description: If mutation tests show that the patient is eligible and they choose to participate in the study, they will be randomized and receive imatinib/Interferon. Each imatinib pill will be 100mg and the participants will take 4 pills once daily (400mg).Participants randomized to the interferon arm will receive Interferon 1500wiu/m2 d1-5 for 4 weeks followed by 900wiu IH TIW for 11 months. The following study procedures will also be performed at routine intervals throughout the course of treatment including blood tests, medical history updates, physical exams and Chest/Abdomen/Pelvic CT examinations.Participants will be on this study for one year and then be followed up to relapse or distal metastasis.

Eligibility: Inclusion Criteria:
  -  Melanoma patients whose primary tumor and regional lymphonodes (if have)have been resected
  -  Histologically documented AJCC stage IIB to IIIC
  -  C-kit mutation documented from either primary or metastatic lymphnode site
  -  ECOG performance status 0 or 1
  -  Age 18 years or older
  -  Creatinine < 1.5 x ULN
  -  ANC > 1500 ul
  -  Platelets > 100,000 ul
  -  Total bilirubin, AST, and ALT < 2 x ULN
  -  Amylase and lipase < 1.5 x ULN
  -  no prior chemotherapy or investigational drug
  Exclusion Criteria:
  -  Severe and/or uncontrolled medical disease
  -  Pregnant or nursing mothers
  -  Any other significant medical, surgical, or psychiatric condition that may interfere with compliance
  -  Patient is < 5 years free of another primary malignancy except: basal cell skin cancer or a cervical carcinoma in situ
  -  Concurrent treatment with Warfarin
  -  Prior treatment with c-kit inhibitor
  -  Patient with Grade III/IV cardiac problems as defined by NYHA criteria
  -  No H2 blockers or proton pump inhibitors
  -  Known chronic liver disease
  -  Known diagnosis of HIV infection
  -  Major surgery within 2 weeks prior to study entry
  -  Patient has received any other investigational agent within 28 days of first study drug dosing
  -  Chemotherapy within 4 weeks prior to study entry

Relevance to patient case: possibly relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Trial to Assess the Efficacy of Midostaurin (PKC412) in Patients With c-KIT or FLT3-ITD Mutated t(8;21) AML

Summary: To assess the efficacy of tyrosine-kinase inhibitor midostaurin in c-KIT or FLT3-ITD mutated t(8;21) AML. To assess the efficacy of midostaurin depending on the type of c-KIT mutation

Detailed description: AML patients displaying t(8;21) have a relatively favourable outcome. Nevertheless, only approximately 50% of patients carrying this cytogenetic aberration are alive at 5 years. This suggests that some patients have more aggressive leukemic phenotypes and indicates the need for treatment optimization with novel therapies.
  The mutated KIT gene as well as the FLT3-ITD mutation have recently been identified as factors most likely to explain the heterogeneous clinical outcomes within the group of t(8;21) AML. The FLT3 and c-KIT genes encode type III receptor tyrosine kinases (RTK) with important and partly redundant functions in early hematopoietic stem cells. Various activating mutations have been described for both genes. For c-KIT, the incidence ranges from 17 to 48% depending on the source population and type of mutations determined. It has been consistently shown that in AMLs with t(8;21), mutated c-KIT is associated with a dramatically increased risk of relapse and reduced overall survival compared to their unmutated counterparts. The FLT3-ITD mutation has a similar negative effect on prognosis in the patient group of t(8;21) mutated AMLs as c-KIT.
  PKC412 (midostaurin) is known to inhibit the c-KIT RTK activity as well as the FLT3 kinase, both in patients with ITD and TKD mutations. It should therefore be possible to abrogate the negative impact of pathologically increased c-KIT or FLT3-ITD activity on relapse and overall survival by using midostaurin in this patient population. Aim of the proposed clinical trial is to prove the efficacy of midostaurin in c-KIT or FLT3-ITD mutated t(8;21)- AMLs in an open-label one-arm design.

Eligibility: Inclusion Criteria:
  -  Diagnosis of c-KIT mutated t(8;21) AML i.e.
  1. >20% myeloid blasts in bone marrow and/or peripheral blood at initial diagnosis
  2. Plus cytogenetic diagnosis of aberration t(8;21)/AML1-ETO
  3. Plus mutation of c-KIT gene (mut-KIT17 or mut-KIT8) or FLT3-ITD mutation or both c-KIT and FLT3-ITD mutations
  -  Chemoresponsive disease as determined by early bone marrow assessment on day 14-16 after first cycle of induction therapy with cytarabine in combination with daunorubicine or idarubicine, or mitoxantrone- Fit for further intensive chemotherapy
  -  Age 18-65 years
  -  ECOG performance status of 0-2
  -  Life expectancy of at least 12 weeks
  Exclusion Criteria:
  -  Primary refractory or previously relapsed AML
  -  Non-eligibility for high-dose cytarabine based consolidation, e.g. intolerance to cytarabine
  -  Inability to swallow oral medications
  -  Symptomatic congestive heart failure
  -  Bilirubin >2.5 x upper limit of normal

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Exercise Time in Sedentary Middle-aged Female

Summary: The exercise time is an important factor among the medical guides for weight loss; however, there is still little knowledge about exercise duration paths in middle-aged and older women. The present study aimed to determine the effects of the interval training on weight loss and lipid profile, and to compare its efficiency with the continuous training.

Detailed description: Participants included sedentary women (age 45-75 years) with overweight or obesity (n= 115). They were randomly divided into two groups including continuous exercise, and interval exercise. The weight assessment parameters including change in weight and body composition, blood sample tests were performed pre- and three month post-intervention.

Eligibility: Inclusion Criteria:
  -  Sedentary lifestyle
  -  Good Health
  -  Weight stability
  Exclusion Criteria:
  *Abnormality or history of Disease

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Bevacizumab Combined With Carboplatin Plus Paclitaxel Chemotherapy to Treat Metastatic Mucosal Melanoma

Summary: Mucosal melanoma is rare and associated with extremely poor prognosis.No effective treatment for advanced mucosal melanoma patients.Investigators conducted a randomized phase II study in patients with previously untreated metastatic mucosal melanoma to characterize the efficacy and safety of bevacizumab when combined with carboplatin plus paclitaxel.

Detailed description: Mucosal melanoma is rare and associated with extremely poor prognosis.It is the second most common subtype in Asians.No effective treatment for advanced mucosal melanoma patients.Malignant melanoma is a highly vascular tumor in which vascular endothelial growth factor(VEGF) is strongly expressed and seems to play an important role in disease progression.A randomized phase II study evaluated the activity of Bevacizumab in combination with carboplatin plus paclitaxel(CPB arm) in patients with previously untreated advanced melanoma.Overall response rates was 25.5%,median overall survival time(OS) was 12.3 months in the CPB arm. Investigators conducted a randomized phase II study in patients with previously untreated metastatic mucosal melanoma to characterize the efficacy and safety of bevacizumab when combined with carboplatin plus paclitaxel.

Eligibility: Inclusion Criteria:
  1. Histologically confirmed mucosal melanoma with metastases and has no received any systemic treatment.
  2. ECOG performance status 0, 1
  3. Estimated life expectancy of 12 weeks or greater
  4. Age 18 years or older, male or female
  5. At least one measurable site (diameter≥1cm) of disease (RECIST 1.1).
  6. Adequate organ function
  7. Without symptoms of brain metastases and stable in neuro-functions.
  8. Willingness and ability to comply with scheduled visits, treatment plans, laboratory tests, and other study procedures
  Exclusion Criteria:
  1. Mutations in C-KIT or BRAF-V600E, asked for other target treatments
  2. Pregnant or lactation women
  3. Acute infections without control.
  4. Heart disease history, cardiac function class≥NYHA II.
  5. HIV positive or chronic HBV/HCV in active stage.
  6. Brain metastases or primary tumor with positive symptoms
  7. Need anti-epileptic treatments
  8. Organ transplantation history
  9. Hemorrhagic tendency or related history
  10. Renal dialysis patients
  11. Diagnosis of any second malignancy within the last 3 years, except for adequately treated.
  12. Current treatment on another clinical trial
  13. The other improper situations which investigator judged.

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Circulating Cell-free DNA in Metastatic Melanoma Patient: Mutational Analyses in Consecutive Measurement Before and After Chemotherapy

Summary: Therapies that target specific molecules markedly inhibit cancer growth in several malignancies, and provide valuable strategies for the treatment of advanced melanoma. In recent years, BRAF and KIT have become established therapeutic targets in melanoma patients showing activating mutations in these oncogenes. However, it is crucial that genetic mutations present in the melanoma lesions are identified if the investigators are to design tailormade therapies for individual patients. The tumour genotypes that determine the selection of molecular-targeted therapies are usually identified in primary tumours; however, primary tumours are not always representative of metastases. Circulating free DNA may be a source of valuable information because it can be obtained via routine blood sampling, it provides real-time information about a patient's current disease state, and it allows monitoring and molecular characterization before and after chemotherapy. The aim of the study is to determine the mutational status in circulating DNA in melanoma metastatic patients, with the Sequenom Mass Array, a next generation sequencing technology. Results obtained before and after treatment will be compared with the primary tumor genotype.


Eligibility: Inclusion Criteria:
  -  Age>18 years
  -  Surgical biopsy for histologic diagnostic
  -  All melanoma subtypes
  -  Known genotype BRAF V600
  -  Affiliation social security
  -  Consent form signed
  Exclusion Criteria:
  -  Patient with histories of cancer or the other synchronous cancer
  -  Pregnant women
  -  Breast-feeding women
  -  Vulnerable patients: major under guardianship; patient deprived of its rights

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

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: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Therapeutic Strategy in Postmenopausal Women Using Osteoporotic Diagnostic Kits

Summary: The frequency of osteoporosis in Japan is increasing. Also, the frequency of osteoporosis-based fractures in postmenopausal women is increasing. Therefore, it is urgently required to improve osteoporosis. Life expectancy in Nagano prefecture is the longest in Japan, however, healthy life expectancy in Nagano is not very long in Japan. There are several problems in this issue from the medical site and the patient site. The aim of this study is, from the patient site, to increase the motivation of postmenopausal women for osteoporosis using osteoporotic diagnostic kit.


Eligibility: Inclusion Criteria:
  -  Women, mainly postmenopausal women
  Exclusion Criteria:
  -  Men

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Study to Determine the Feasibility of Sentinel Node Biopsy in Patients With Anal Cancer

Summary: The purpose of this study is assess the technical and operational feasibility of a specialised biopsy technique, sentinel lymph node biopsy (SLNB), in patients with anal cancer.

Detailed description: SLNB is based on the premise that lymphatic dissemination from a tumour occurs in a stepwise fashion, with initial involvement of a primary node, called the sentinel node, before dissemination to the remainder of the lymphatic chain. If the sentinel node is histologically negative, then the remainder of the nodes in the same anatomic region will be at a lower (assumed to be minimal) risk of containing metastases. SLNB is part of standard care for patients with malignant melanoma and with breast cancer but has yet to be prospectively evaluated in patients with anal cancer.
  Currently, the standard way to treat patients with anal cancer is to deliver a combination of chemotherapy and radiation to the tumour at the anus together with 'preventative' (prophylactic) radiotherapy to the lymph glands of the groin and pelvis. There is a growing perception for the need to reduce the morbidity of radiotherapy i.e. current regimens over-treat the patient and one approach is to reduce radiotherapy volume and/or dose where there is an absence or very low risk of nodal metastases.
  This feasibility study is a vital first step in informing the design of a larger study examining the role of SLNB in clinical decision-making and outcomes for patients with anal cancer. In this trial eligible patients will attend for lymphoscintigraphy, to locate the lymph node, before sentinel lymph node removal by surgery. Detection rate of the sentinel node(s) will be the key outcome for the study.

Eligibility: Inclusion Criteria:
  -  Patients with squamous cell carcinoma (SCC) of the anus (any T size and/or those with recurrent disease)
  -  Equivocal lymph node involvement on standard CT staging or magnetic resonance (MR) staging or PET-CT scan, as determined by the anal cancer multidisciplinary team (MDT)
  -  Age >= 18 years
  -  Written informed consent provided by the patient
  Exclusion Criteria:
  -  Patients with unequivocal lymph node involvement on standard CT staging or MR staging, as determined by the anal cancer MDT.
  -  Unfit for surgical biopsy
  -  Patients undergoing palliative treatment
  -  Previous pelvic or inguinal area radiotherapy
  -  Other coincident cancers
  -  Previous inguinal surgery (e.g. hernia repair) with mesh insertion

Relevance to patient case: not relevant
Patient case: 65-year-old female with melanoma; genetic feature: KIT (L576P)

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: 65-year-old female with melanoma; genetic feature: KIT (L576P)

Clinical trial: Pancreatic Cancer Early Detection Program

Summary: Early detection testing is recommended for individuals at elevated risk for the development of Pancreatic Cancer. This Protocol will define sufficiently elevated risk as either equal to or greater than five times the general population risk, or five times the average risk (1.5%) of developing pancreatic cancer by age 70; that is a 7.5% lifetime risk. Our inclusion criteria has a strong focus on the risk for pancreatic cancer imparted by the presence of hereditary cancer genes, as well as by family history. Enrolled subjects will undergo Endoscopic Ultrasound (EUS) alternating with Magnetic Resonance Imaging (MRI), every six to 12 months, for up to 5 years.

Detailed description: Interested individuals can be referred by physicians, or by family or friends.
  Individuals are informed that the purpose of this study is to collect outcome data following early detection testing based upon our criteria for elevated risk.
  Consent is obtained by any of the co-investigators. Consent is obtained for the primary PCEDP, and also obtained to allow for data to be used by our Cancer Program.
  We have a weekly review of all calls made and of all enrollments.
  We have a monthly meeting to review all proceeding regarding the study.
  Our IRB routinely reviews the proceedings of the study
  Our institution has a monthly Clinical research Committee meeting.

Eligibility: Inclusion Criteria: Any of the following:
  1. Known carrier of either the BRCA2 or CDKN2A mutation;
  2. Known carrier of any of the following mutations (BRCA1, MLH1, MSH2, PMS2, MSH6, EPCAM , P53, PALB2, APC, or ATM) PLUS first or second degree relative affected with pancreatic cancer;
  3. Individual with Peutz-Jeghers Syndrome;
  4. Familial Pancreatic Cancer, defined as at least two affected relatives with Pancreatic Cancer, who are first degree relatives with each other, and at least one of those affected must be first degree relative to the study subject;
  5. Both parents affected, any age:
  6. Any first degree relative diagnosed with pancreatic cancer under age 50;
  7. Chronic Pancreatitis Syndrome, defined by either PRSS1 or SPINK1 mutations AND appropriate clinical and family history
  Exclusion Criteria:
  1. Any medical condition that contraindicates endoscopy or biopsy
  2. Any medical condition that contraindicates MRI
  3. Status post partial or complete resection of the pancreas
  4. History of pancreatic cancer, either endocrine or exocrine
  5. Clinical suspicion of pancreatic cancer, or any previous radiographic or histologic diagnosis of a pre-malignant finding, including IPMN (Intraductal papillary mucinous neoplasm) and PanIN (Pancreatic intraepithelial Neoplasm).
  6. diagnosis of dementia
  7. Uncontrolled, current illness
  8. Renal insufficiency with serum creatinine greater than 2.0 mg/dl

Relevance to patient case: not relevant