araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Comparison of Safety and Efficacy of a Metallic Cannula Versus a Standard Needle to Inject Hyaluronic Acid for Nasolabial Fold

Summary: The purpose of this study was to assess the safety and efficacy of a new metallic cannula to inject hyaluronic acid for dermal augmentation in the nasolabial folds compared to standard needle.

Detailed description: This was a monocentric, prospective, randomized, phase II and double-blind study.
  At the baseline visits, one investigator rated the severity of nasolabial folds on both left and right sides according to the mentioned scale, and a standard set of six photographs of the face (frontal, left side and right side for both the whole face and the lower face) were taken.
  On the day of the injection, the main investigator injected 1ml of dermal filler - hyaluronic acid (Restylane®, Q-Med, Uppsala, Sweden) - for each subject. The injected amount was 0,5ml for the right nasolabial fold and 0,5ml for the left nasolabial fold. The sides will be randomized.

Eligibility: Inclusion Criteria:
  -  Subjects agreeing to take part of the study, after being fully informed of the purpose and the nature of the investigation and after having signed the informed consent form
  -  Female subjects aged from 18 to 60
  -  Fitzpatrick phototype I to VI
  -  Presence of bilateral folds graded from 2 to 3 according to the Modified
  -  Fitzpatrick Wrinkle Scale
  -  Subjects that have never performed any treatment of nasolabial folds
  -  Female subjects of childbearing age that present a negative urine pregnancy test and are using an effective contraceptive method
  -  Subjects who will be available throughout the duration of the study
  -  Subjects with sufficient schooling and awareness to enable them to cooperate to the degree required by this protocol.
  Exclusion Criteria:
  -  Use of systemic corticosteroids
  -  History of herpes in lip
  -  Inflammation or active infection in the area to be injected
  -  Any surgical treatment or cosmetic procedure in the area to be injected that interfere in study's outcomes
  -  Coagulation disorders or use of anticoagulants
  -  Previous hypersensitivity responses to Hyaluronic acid.
  -  Pregnant or women in breastfeeding, or women planning to become pregnant

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Study of Nilotinib in Metastatic Melanoma With KIT Aberrations

Summary: Major response was observed to imatinib mesylate in KIT-mutated metastatic rectal melanoma (Hodi FS et al, J Clin Oncol 26:2046-2051, 2008). In the ASCO annual meeting in 2009ar, KIT mutations were reported to be present in 23% of acral and 15.2% of mucosal melanomas (Heinrich MC et al, J Clin Oncol 26:2008 abstr 9016). Nilotinib is a novel tyrosine kinase inhibitor (TKI) targeting KIT, PDGFR, and Bcr-Abl and inhibiting the proliferating of both imatinib-sensitive and imatinib-resistant cells in vitro. Phase I study of nilotinib alone and in combination with imatinib in patients with imatinib-resistant gastrointestinal stromal tumors (GIST) demonstrated significant activity (72% stable disease for nilotinib alone and 56% for nilotinib/imatinib combination) (Blay JY et al, J Clin Oncol 26:2008, abstr 10553).
  Thus, we propose to conduct a phase II study of nilotinib in metastatic melanoma with KIT mutations.


Eligibility: Inclusion Criteria:
  1. Histologically or cytologically proven melanoma with stage IV or unresectable stage III disease
  2. Documented KIT aberration
  3. Adequate organ function as defined by the following criteria:
  -  Serum aspartate transaminase (AST); serum glutamic oxaloacetic transaminase (SGOT)) and serum alanine transaminase (ALT); serum glutamic pyruvic transaminase (SGPT)) ≤ 2.5 x local laboratory upper limit of normal (ULN), or AST and ALT less than or equal to 5 x ULN if liver function abnormalities are due to underlying malignancy
  -  Total serum bilirubin ≤ 1.5 x ULN
  -  Absolute neutrophil count (ANC) ≥ 1500/µL
  -  Platelets ≥ 100,000/µL
  -  Hemoglobin ≥ 9.0 g/dL (may be transfused or erythropoietin treated)
  -  Serum calcium ≤ 12.0 mg/dL
  -  Serum creatinine ≤ 1.5 x ULN
  4. Patients with CNS metastasis must have stable neurologic function without evidence of CNS progression within 8 weeks
  5. May have previous adjuvant therapy with interferon, vaccines or therapy with IL-2, chemotherapy
  6. At least one measurable lesion by RECIST criteria
  7. ECOG PS 0-2
  Exclusion Criteria:
  1. Major surgery or radiation therapy within 4 weeks of starting the study treatment.
  2. History of or known carcinomatous meningitis, or evidence of symptomatic leptomeningeal disease on screening CT or MRI scan.
  3. Ongoing cardiac dysrhythmias of NCI CTCAE grade ≥ 2.
  4. QTc > 470 msec on baseline EKG.
  5. Pregnancy or breastfeeding.

Relevance to patient case: possibly relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Biomarkers in Young Patients With Acute Myeloid Leukemia

Summary: RATIONALE: Studying samples of tissue from patients with cancer in the laboratory may help doctors learn more about biomarkers related to cancer.
  PURPOSE: This research study is studying biomarkers in tissue samples from young patients with acute myeloid leukemia.

Detailed description: OBJECTIVES:
  -  Determine the frequency of ligand-independent phosphorylation of Stat3 in a small cohort of samples from pediatric patients with acute myeloid leukemia including, but not limited to, samples known to express mutated c-kit.
  -  Measure the level of Stat3 phosphorylation in these samples after stimulation of three key cytokine receptors expressed on hematopoietic cells IL-6R, G-CSFR, and c-kit.
  OUTLINE: Cryopreserved samples are analyzed for levels of various components of the Stat3 pathway via western blotting.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of acute myeloid leukemia
  -  One of the following karyotypes:
  -  t(8;21) and WT c-kit
  -  t(8;21) and mutant c-kit
  -  Normal karyotype
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Early Diagnosis of Malignant Transformation of Pigmentary Skin Lesions

Summary: Malignant Melanoma is a deadly skin cancer that can be cured if diagnosed early. To date atypical pigmented skin lesions are diagnosed by appearance alone and many moles and lesions are excised unnecessarily and on the other hand malignant lesions are missed and diagnosed too late. In this study a protein conjugated to a florescent dye is spread on a suspicious pigmented lesion, the hypothesis is that this protein binds to malignant cells only and thus with a special camera that picks up the dye we can find pigmented lesions with early malignant transformation.


Eligibility: Inclusion Criteria:
  -  pigmented lesion indicated for surgical excision
  -  over 18 years of age
  Exclusion Criteria:
  -  pregnancy

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: IL15 Dendritic Cell Vaccine for Patients With Resected Stage III (A, B or C) or Stage IV Melanoma

Summary: The purpose of the study is to gather data on feasibility as well as immune and clinical efficacy of of a dendritic cell vaccine using IL15 in patients with resected stage III or stage IV melanoma

Detailed description: IL15 is a T cell growth factor that pre-clinical data overwhelmingly suggests could have a very important role in cancer immunotherapy. A desirable property for a dendritic cell vaccine directed against cancer is the ability to efficiently prime naïve, tumor associated antigen specific T cells into potent CTLs. Results of studies in healthy volunteers have shown that IL15 DCs are particularly efficient at priming functional melanoma specific CD8+ T cells. The use of IL15 in the manufacture of the DC vaccine could result in an improved immunotherapy product.

Eligibility: Inclusion Criteria:
  -  HLA A201 + phenotype
  -  Biopsy-proven melanoma, Stages III (A, B and C) or stage IV.- no evidence of disease at study entry
  -  Age: 21-75 years
  -  ECOG performance status 0-1
  -  Adequate marrow function
  -  Adequate hepatic function
  -  Adequate renal function
  -  Written informed consent
  Exclusion Criteria:
  -  Subjects with measureable non-resectable melanoma
  -  Subjects who have had chemotherapy less than 4 weeks before starting trial
  -  Subjects who received IFN-a or GM-CSF less than 4 weeks before starting trial
  -  Subjects who received IL2 less than 4 weeks before starting trial
  -  Subjects with a baseline LDH greater than 1.1 times the ULN
  -  Subjects who are HIV positive
  -  Female subjects who are pregnant
  -  Subjects who have received corticosteroids or other immunosuppressive agents less than 4 weeks before starting trial
  -  Subjects who have asthma and/or are on treatment for asthma
  -  Subjects with angina pectoris
  -  Subjects with congestive heart failure
  -  Subjects with history of autoimmune disease including lupus, rheumatoid arthritis or thyroiditis
  -  Subjects with active infections including viral hepatitis
  -  Subjects with a history of neoplastic disease othe than melanoma within the last 5 years
  -  History of neoplastic disease within the last 5 years except for carcinoma in situ of the cervix, superficial bladder cancer or basal/squamous cell carcinoma of the skin.
  -  Subjects who present with open wounds

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Genetic Polymorphisms Predict Chemotherapeutic Outcomes in Patients With Metastatic Breast Cancer

Summary: The investigators want to research whether genetic polymorphisms of drug-metabolizing enzymes can be used to predict chemotherapeutic outcomes in patients with metastatic breast cancer.

Detailed description: 1. Patients evaluation On all patients a complete clinical history and physical examination is performed, including routine hematology and biochemistry analyses. Hematology and biochemistry analyses are repeated at the end of each cycle. Toxicity is classified according to WHO criteria at each cycle for each patient. Response is assessed after two cycles of chemotherapy and every two cycles thereafter, using Response Evaluation Criteria in Solid Tumor Group (RECIST) guidelines.
  2. Sample collection and SNP genotyping Venous blood (4 ml) is collected from each subject and placed into tubes containing EDTA. Genomic DNA is isolated with a DNA Blood isolation kit.Genotypes are performed by PCR-RFLP, PCR-DHPLC and PCR-direct sequencing, etc.
  3. Statistical Analysis x2 test is used to summarize the association of response and adverse events to chemotherapy with genetic polymorphisms.

Eligibility: Inclusion Criteria:
  -  Histologically confirmed metastatic breast cancer
  -  Female
  -  An Eastern Cooperative Oncology Group (ECOG) performance status of 0-2
  -  At least one measurable lesion
  -  Normal cardiac, hepatic, renal and bone marrow functions
  -  Life expectancy ≥3 months
  -  Discontinuity of previous chemotherapy for a minimum of 4 weeks
  Exclusion Criteria:
  -  Central nervous system metastases
  -  Serious or uncontrolled concurrent medical illness
  -  History of other malignancies

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: A Retrospective Study of C-kit Mutation Status in Asian Patients With Advanced Gastro-intestinal Stromal Tumors (GIST) Treated With Imatinib.

Summary: Imatinib is the current standard treatment for advanced GIST. Previous studies have shown that GIST genotype was associated with treatment outcomes with exon 11 having superior outcome compared with exon 9 or WT.10, 11 In patients with exon 9 kit mutation, the response rate was higher at when imatinib was given at 800mg daily compared with the standard dose of 400mg daily. Although the data linking tyrosine kinase mutation status and imatinib response in metastatic GISTs is intriguing, more information is needed before mutation testing is adopted as part of the routine analysis of high-risk or overtly malignant KIT-expressing GISTs.25 Despite the fact that exon 9 mutations are associated with a lower response rate, overall survival does not appear to be better with high-dose therapy. The investigators propose to conduct a retrospective analysis of mutational analysis on patients with GIST and determine the relationship between patient response and imatinib dose.


Eligibility: Inclusion Criteria:
  1. Histologic diagnosis of advanced stage or metastatic GIST
  2. Asian patient (as defined by the investigator)
  3. First line treatment with imatinib
  4. Availability of tumor samples for kit mutation analysis
  5. Availability of tumor response rate and or time to progression data
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Use of High Cost Monitoring During Letrozole Ovulation Induction

Summary: The purpose of this study is to investigate monitoring methods during ovulation induction cycles with letrozole and their effect on pregnancy rates. Monitoring ovulation induction cycles with letrozole can be done with a variety of methods, the two most commonly utilized are home-based urinary LH kits (or ovulation predictor kits) and office-based midcycle follicular ultrasound. Letrozole coupled with follicular monitoring by ultrasound may add extra cost per cycle with no improvement in fecundability (pregnancy rates per cycle).

Detailed description: The study will be a randomized controlled trial of adult women with primary and secondary infertility seen at the University of Michigan Health System undergoing ovulation induction (OI) with letrozole as part of their standard clinical care. Patients who are undergoing OI with letrozole as per standard clinical care will be randomized to urinary luteinizing hormone (LH) ovulation predictor kit use versus mid-cycle ultrasound with administration of hCG when appropriate for timing of intercourse or intrauterine insemination. Patients who have been prescribed letrozole as per routine clinical care will be approached to determine willingness to participate in this study. Study period involves up to three ovulation induction cycles or until pregnancy occurs.

Eligibility: Inclusion Criteria:
  -  Women ages 21-39 undergoing letrozole ovulation induction (as part of routine clinical care) at a single academic-infertility center.
  -  Normal uterus and evidence of at least tubal patency on one side (as assessed by saline-infusion sonography or hysterosalpingogram per clinical care).
  Exclusion Criteria:
  -  Current pregnancy
  -  Nursing mothers
  -  Prior hypersensitivity to hCG preparations
  -  Primary ovarian failure or menopausal levels of FSH (>12 mIU/mL)
  -  Patients with abnormal uterine bleeding of undetermined origin or ovarian cyst of undetermined origin, sex-hormone dependent tumors, documented bilateral tubal obstruction, uncorrected uterine anomalies,
  -  Previous letrozole or gonadotropin use and/or previous treatment with in vitro fertilization
  -  Other uncorrected medical condition that would be a contraindication to attempting elective ovulation induction (e.g., uncontrolled diabetes, intracranial lesion, thyroid or adrenal disease).

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Dacarbazine in the Treatment of Patients With Non-Resectable or Metastatic Stage 3 or Stage 4 Melanoma Carrying a Mutation in the Juxta Membrane Domain of C-Kit

Summary: Masitinib is a novel TKI that potently inhibits wild type (WT) c-kit and its activated form, mutated in the juxtamembrane region (JM c-kit) PDGFRs, the intracellular kinase Lyn, and to a lesser extent fibroblast growth factor receptor 3 (FGFR3).
  Pre-clinical data suggest that masitinib is a strong candidate for the treatment of patients with advanced melanoma carrying a c-kit JM mutation.


Eligibility: Inclusion Criteria:
  -  Patient with histologically or cytologically confirmed non-resectable or metastatic stage 3 (non-resectable IIIB or IIIC, AJCC TNM staging system 7th edition) or stage 4 melanoma
  -  Patient with detectable c-kit JM mutation confirmed by DNA or RNA sequencing, which is expected to be mainly found after screening of mucosal or acral melanoma or melanoma on skin with chronic sun-induced damages (defined by a microscopically marked elastosis involving the skin surrounding their primary melanoma)
  -  Patient with measurable disease according to RECIST
  -  Patient with ECOG ≤ 2
  Exclusion Criteria:
  -  Patient with other malignancies from which the patient has been continuously disease-free for < 3 years, with the exception of melanoma, cervical carcinoma in situ, basal cell or squamous cell skin cancer, ductal or lobular carcinoma in situ of the breast
  -  Patient with active brain metastases are not eligible. Patients with treated brain metastases are eligible if :
  -  presence of 3 brain lesions or less
  -  lesion(s) diameter is ≤ 2 cm
  -  radiation therapy (gamma knife) was completed ≥ 4 weeks prior to baseline
  -  surgery was completed ≥4 weeks prior to baseline
  -  lesions assessed by follow-up scan (or MRI if MRI performed before brain therapy) ≥ 1 month after brain therapy are considered under control at baseline
  -  Patient refractory to dacarbazine defined as patient presenting a disease progression after 3 months of dacarbazine therapy.
  -  Prior treatment with a tyrosine kinase c-kit inhibitor

Relevance to patient case: possibly relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Interferon Alfa Sensitivity in HIV/HCV Persons Before and After HIV Meds

Summary: The chief purpose of this research is to evaluate interferon alpha sensitivity and cell type specific levels of interferon receptor and interferon stimulated genes and proteins in HIV/ HCV (hepatitis C virus) coinfected persons before and after administration of HIV medications (antiretroviral therapy).

Detailed description: We plan to perform liver biopsy by microlaparoscopy on previously untreated HIV/HCV coinfected persons, then give them a dose of peginterferon alfa 2b. HCV and HIV kinetics will be studied. Afterward, HIV will be treated using antiretroviral therapy and the procedure will be repeated.

Eligibility: Inclusion Criteria:
  -  Adult Human
  -  Able to provide written informed consent
  -  HIV antibody positive
  -  HIV viral load positive
  -  HIV treatment naive
  -  Hepatitis C antibody positive
  -  Hepatitis C viral load positive
  -  Hepatitis C treatment naive
  -  Approved to take HIV medications for minimum 9 months
  -  Willing to use contraception, Life expectancy greater than 2 years
  Exclusion Criteria:
  -  Significant opportunistic infections within 12 month
  -  Hepatitis B positive
  -  Evidence of liver cirrhosis
  -  Decompensated liver disease
  -  Chronic alcohol abuse
  -  Allergy to raltegravir, tenofovir, and/or emtricitabine
  -  Active or suspected malignancy
  -  Sarcoidosis
  -  Active TB
  -  Coronary artery disease
  -  Uncontrolled seizures
  -  Untreated thyroid disease
  -  Untreated diabetes
  -  Weight greater than 125 kg
  -  Severe depression or severe psychiatric disorder
  -  Ongoing alcohol or illicit drug use
  -  Pregnant, nursing, pr planning to become pregnant
  -  Allergy to interferon

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: A Phase II Study of Single Agent MEK162 in Patients With Advanced Melanoma

Summary: The study will assess the safety and efficacy of single-agent MEK162 in adult patients with locally advanced and unresectable or metastatic malignant cutaneous melanoma, harboring BRAFV600E or NRAS mutations.


Eligibility: Inclusion Criteria:
  -  Locally advanced or metastatic cutaneous melanoma AJCC Stage IIIB to IV, not potentially curable with surgery
  -  BRAF or NRAS mutation in tumor tissue
  -  All patients enrolled should provide sufficient fresh or archival tumor sample at baseline to enable confirmation of BRAF or NRAS mutations and the additional analyses described in the protocol
  -  Evidence of measurable tumor disease as per RECIST
  -  WHO performance status of 0-2
  -  Adequate organ function and laboratory parameters
  Exclusion Criteria:
  -  History or evidence of central serous retinopathy (CSR), retinal vein occlusion (RVO) or any eye condition that would be considered a risk factor for CSR or RVO
  -  Patients with unstable CNS metastasis
  -  Prior treatment with a MEK- inhibitor
  -  Impaired cardiovascular function
  -  HIV, active Hepatitis B, and/or active Hepatitis C infection
  -  Pregnant or nursing (lactating) women
  -  Women of child-bearing potential UNLESS they comply with protocol contraceptive requirements
  Other protocol-defined inclusion/exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Detection of Choroidal Nevus Cells in Vitrectomy Fluid

Summary: The purpose of this study is to determine if the investigators can detect the presence of choroidal nevi cells in the vitreous fluid of humans, as this may improve the diagnosis and classification of choroidal nevi and melanomas in the future.

Detailed description: Approximately 7% of the population has a choroidal nevus, or "freckle," in the back of the eye. Like a nevus on the skin, there is potential for malignant change to a melanoma. Dermatologists have the ability to quickly and easily biopsy suspicious skin lesions while ophthalmologists currently have no way of determining the malignant potential of choroidal nevi other than a fine needle aspiration (which is invasive and has the potential complications of bleeding and retinal detachment). This study's sole aim is to see if choroidal nevi cells are present in the inside fluid of the eye. The investigators plan to analyze the fluid of the eye, which is routinely removed during retina surgery, to detect any nevus cells. If the investigators are able to detect these cells, then future studies may allow us to better classify choroidal nevi for potential malignant change.

Eligibility: Inclusion Criteria:
  -  Patients with a choroidal nevus who are undergoing routine vitrectomy surgery for another indication (such as epiretinal membrane or macular hole repair).
  Exclusion Criteria:
  -  Patients without a choroidal nevus
  -  Children under the age of 18
  -  Pregnant and nursing females

Relevance to patient case: not relevant