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

Clinical trial: Characterisation of Gene Variants in the Angiogenic Pathway

Summary: Anti-angiogenic targeted therapies are used in a wide range of solid tumors including NSCLC, breast cancer, GISTs, CRC, renal cell carcinoma and hepatocellular carcinoma. Somatic mutations in genes related to tumorigenesis have been associated with treatment response whereas germline gene variants have been associated with tumor risk, prognosis and treatment related toxicity.Study objectives are:
  1. To characterise the prevalence and clinicopathological associations of germline and somatic variation in genes involved in the angiogenic pathway in healthy donors and unselected cancer patients
  2. To examine the association between angiogenic gene variants and outcome in patients receiving anti-angiogenic therapy

Detailed description: Angiogenesis plays a key role in the process of tumour growth and metastases. Anti-angiogenic targeted therapies are currently used in a wide range of solid tumors including lung, breast, colorectal, kidney and liver cancer. Somatic variants in genes related to tumorigenesis have been associated with treatment response, whereas germline gene variants have been associated with tumor risk, prognosis and treatment related toxicity. In this study we propose to (1) To characterise the prevalence and clinicopathological associations of germline and somatic variation in genes involved in the angiogenic pathway in healthy donors and unselected cancer patients (2) to examine the association between angiogenic gene variants and outcome in patients receiving anti-angiogenic therapy. Genes related to angiogenesis to be characterised include those encoding platelet derived growth factor receptors, vascular endothelial growth factors, vascular endothelial growth factor receptors, K-Ras, B-Raf, and c-kit. Results from this study may (1) identify patients who are more likely to respond to anti-angiogenic targeted therapy, thus maximising drug efficacy and (2) to identify further targets for potential anti-angiogenic drug therapies.

Eligibility: Inclusion Criteria:
  -  Anti-angiogenic targeted therapies are used in a wide range of solid tumors including NSCLC, breast cancer, GISTs, CRC, renal cell carcinoma and hepatocellular carcinoma

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

Clinical trial: Study of Genes and the Environment in Patients With Endometrial Cancer in the East Anglia, Oxford, Trent, or West Midlands Regions of the United Kingdom

Summary: RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
  PURPOSE: This study is looking at genetic susceptibility to cancer and interactions between genes and the environment in patients with endometrial cancer.

Detailed description: OBJECTIVES:
  -  To obtain epidemiological information and biological material on a population-based series of endometrial cancer cases.
  -  To define the proportion of endometrial cancer incidence attributable to mutations in known predisposing genes such as MSH2 and MLH1.
  -  To determine the risk associated with these predisposing mutations by examining the cancer risk in relatives of patients who are shown to be carriers.
  -  To examine the effect of nongenetic risk factors in mutation carriers.
  -  To determine the pathological and clinical characteristics of endometrial cancers occurring in mutation carriers as compared with that in noncarriers.
  -  To establish whether mutations at other loci may predispose to endometrial cancer by comparing the frequency of alterations in endometrial cancer patients with the corresponding frequency in cancer-free controls identified through the European Prospective Investigation of Cancer (EPIC) study.
  OUTLINE: This is a multicenter study.
  Patients complete an epidemiological questionnaire. The questionnaire will request identifying information about the patient's first-degree relatives.
  Blood samples are collected from patients. DNA is extracted from these blood samples and from samples collected from cancer-free control participants in MREC-SEARCH-CONTROL as well as from additional controls through the European Prospective Investigation of Cancer (EPIC) study (a population based study of diet and health based in Norfolk, East Anglia). DNA samples are analyzed for polymorphisms of low penetrance cancer susceptibility genes.
  In addition to the endometrial cancer patients recruited for this study, patients with breast, ovarian, prostate, colorectal, bladder, kidney, pancreatic, brain and esophageal cancer, malignant melanoma, and lymphoma cancer are recruited in the following related clinical trials: MREC-SEARCH-BREAST, MREC-SEARCH-OVARIAN, MREC-SEARCH-PROSTATE, MREC-SEARCH-COLORECTAL, and MREC-SEARCH-CANCER.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of endometrial cancer within the past 5 years
  -  Identified in any of the following geographic regions of the United Kingdom:
  -  East Anglia
  -  Oxford
  -  Trent
  -  West Midlands
  PATIENT CHARACTERISTICS:
  -  Identified by the patient's general practitioner as fit to contact for this study
  -  No serious mental illness or retardation
  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: Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis

Summary: RATIONALE: Thalidomide may stop the growth of systemic mastocytosis by blocking blood flow to the disease.
  PURPOSE: This phase II trial is studying how well thalidomide works in treating patients with relapsed or progressive systemic mastocytosis.

Detailed description: OBJECTIVES:
  Primary
  -  Determine the objective response rate at 6 months in patients with systemic mastocytosis treated with thalidomide.
  Secondary
  -  Determine the tolerability of this drug in these patients.
  OUTLINE: This is a multicenter study.
  Patients receive oral thalidomide once daily for 6 months in the absence of disease progression.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of systemic mastocytosis
  -  Aggressive or borderline (smoldering) disease (in first line or more)
  -  Relapsed or progressive disease
  -  Measurable or evaluable disease
  -  Presence of c-Kit D816V mutation in the skin, spine, or infiltrated organs
  -  No nonsymptomatic mastocytosis
  PATIENT CHARACTERISTICS:
  -  Life expectancy > 3 months
  -  Not pregnant or nursing
  -  Negative pregnancy test
  -  Fertile patients must use effective contraception for 1 month prior to, during, and until first menstrual cycle after completion of study treatment
  -  Bilirubin < 2 times normal (unrelated to disease)
  -  Liver enzymes < 2 times normal (unrelated to disease)
  -  Creatinine ≤ 300 mmol/L
  -  No central or peripheral neuropathy leading to psychiatric concerns
  -  No HIV positivity
  -  No active infection or other serious underlying illness that would preclude treatment
  -  No history of thromboembolism or deep vein thrombosis
  -  No geographical, social, or psychological reasons preventing medical monitoring
  PRIOR CONCURRENT THERAPY:
  -  More than 4 weeks since prior antitumor therapy (e.g., chemotherapy, radiotherapy)
  -  No other concurrent treatment specific for this disease
  -  No concurrent participation in another experimental drug trial

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

Clinical trial: Feasibility and Functionality of fPAM Imaging in Melanoma

Summary: Melanoma is a cutaneous malignancy that has the potential for local (skin) and regional (lymph node) recurrence. These recurrences may be difficult to detect in their earliest stages. We are attempting to use novel form of skin imaging that uses ultrasound combined with laser to identify these recurrences early, when they may be most amenable to treatment. This imaging will detect melanoma pigment below the surface of the skin and in the draining lymph nodes, as well as new blood vessel formation that occurs with these loco-regional metastases.

Detailed description: recruiting healthy individuals with pigmented lesions and individuals with melanoma and pigmented lesions

Eligibility: Inclusion Criteria:
  -  Adult patients (> 18 yrs of age) with recently diagnosed or a history of, Stage I - III melanoma who are able to give informed consent.
  Exclusion Criteria:
  -  Patients with melanomas < 1mm.
  -  Pregnant females.
  -  Children and young adults < 18 yrs of age and patients who are unable to give informed consent.

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

Clinical trial: Genetic Risk Factors and Acquired Oncogenic Mutations of Melanoma

Summary: Though it is generally accepted that exposure to sunlight is a major causative factor for skin cancer, the risk for developing melanoma is not directly linked to sun exposure such as in non-melanoma skin cancer. Therefore, a dual pathway has been proposed, distinguishing melanoma that develops on skin that is chronically exposed to sunlight from those that occur on skin that is normally protected. The risk for each type of melanoma is believed to be determined in part by genetic factors. To define these markers reproducibly, the investigators plan to establish a large cohort with comprehensive information regarding sun sensitivity (skin type), history of experienced sun exposure, skin pigmentation phenotypes, total number of nevi, and other types of skin tumors in a central European population. The investigators will obtain blood from all participants for DNA as well as serum analyses. Based on the finding that genetic variants of the melanocortin-1 receptor (MC1R) gene, associated with red hair and fair skin, have been shown to be associated with increased risk for melanoma, particularly those harboring BRAF mutations, the investigators will now focus on the study of recently discovered genetic variants associated with pigmentation. Furthermore, the investigators will study the relation of these variants with oncogenic mutations of melanoma in BRAF, RAS and c-Kit. The study of other genetic variants will follow, once a sufficiently large cohort has been established to reveal an independent genetic risk factor in a multivariate analysis including potential covariates as mentioned above. The identification of genetic risk factors for melanoma will not only help identify individuals with increased risk but also improve our understanding of the molecular background of the development of melanoma.


Eligibility: Inclusion Criteria:
  -  patients with or without melanoma
  Exclusion Criteria:
  -  HIV and Hepatitis C positive individuals.

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

Clinical trial: GeneSearch™ Breast Lymph Node (BLN) Assay China Registration Study

Summary: The primary objective of this trial is to compare GeneSearch™ Breast Lymph Node (BLN) Test Kit to permanent pathological section, so as to evaluate the clinical sensitivity and specificity of GeneSearch™ Breast Lymph Node (BLN) Test Kit in detecting axillary sentinel lymph node metastases in breast cancer patients.
  The secondary objective of this trial is to evaluate the positive predictive value and negative predictive value of GeneSearch™ Breast Lymph Node (BLN) Test Kit when used in the detection of axillary sentinel lymph node metastases in breast cancer patients.
  Prospective and multi-center clinical trial


Eligibility: Inclusion Criteria:
  -  Diagnosed previously as breast cancer
  -  patient scheduled for sentinel lymph node dissection
  -  18 years or older
  -  female or male, and
  -  able and willing to give consent to participate in the study
  Exclusion Criteria:
  -  Patients taking part in other research studies that would interfere with their full participation in this study, or
  -  Prior sentinel or partial axillary lymphadenectomy on the same body side

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

Clinical trial: Trial of Imatinib (Gleevec®) in Selected Patients With Metastatic Melanoma

Summary: This study is a single-armed, open-label, single-center phase II trial of signal transduction inhibitor number 571 (STI-571) systemic therapy in selective patients with metastatic melanoma, and aims to study the efficacy and safety. The primary endpoint is progression-free survival (PFS) and the second endpoints are overall response rate (ORR), overall survival (OS), 1-year OS and safety.

Detailed description: Only patients who meet the inclusion and exclusion criteria will be enrolled. The estimated recruitment duration is 1 year. Imatinib will be given in the dose of 400 mg orally each day unless disease progression or intolerance. The follow-up is 12 months.
  Forty-eight subjects will be recruited for this study. This sample size is justified by the number of patients required to establish an improvement in PFS with statistical significance compared to historical control.
  The standardized RECIST (Response Evaluation Criteria in Solid Tumors) method of unidimensional tumor assessment will be employed to evaluate tumor lesion size per 2 months in the determination of response rate and progression free survival. Repeated radiographic assessment at 4 week intervals is consistent with general oncological practice associated with computerized tomography (CT) or magnetic resonance imaging (MRI) scan testing. All efficacy endpoints will be evaluated by the investigator.
  Safety will be characterized in terms of the incidence, timing, severity, and relatedness of adverse events and laboratory abnormalities. Severity will be graded according to the NCI CTCAE Version 3.0.

Eligibility: Inclusion Criteria:
  1. Histologically confirmed melanoma with metastases and has no received any systemic treatment within 1 month
  2. Evidence of mutations and/or copy number increases of KIT with laboratory examination documented from either primary or metastatic tumor site
  3. ECOG performance status 0, 1, or 2
  4. Estimated life expectancy of 6 months or greater
  5. Age 18 years or older, male of female
  6. At least one measurable site of disease
  7. Adequate organ function
  8. Willingness and ability to comply with scheduled visits, treatment plans, laboratory tests, and other study procedures
  Exclusion Criteria:
  1. Melanoma from primary sites other than acral or mucosal melanoma
  2. Received systemic anti-cancer therapy within 1 month before enrollment for metastatic disease
  3. Diagnosis of any second malignancy within the last 5 years, except for adequately treated basal cell carcinoma, squamous cell skin cancer, or in situ cervical cancer
  4. Severe and/or uncontrolled concomitant medical diseases
  5. pregnant or childbreeding women
  6. Known hypersensitivity to imatinib
  7. Current treatment on another clinical trial

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

Clinical trial: Pilot Study of Infrared Imaging of Cutaneous Melanoma

Summary: Design: this is a pilot study of infrared imaging of cutaneous lesions in patients and volunteers with and without clinically detectable melanoma, and with one or more palpable cutaneous lesions eligible for this imaging study. Participants will be evaluated with infrared camera imaging at cutaneous sites with known melanoma deposits, suspected melanoma deposits that are to be biopsied, or at cutaneous sites with other lesions, including other skin cancers, benign inflammatory lesions, benign neoplastic lesions (lipomas, epidermal cysts, dermatofibromas, scar, healing wound, etc.).


Eligibility: Inclusion Criteria:
  -  Patients or volunteers with or without a history of melanoma.
  -  One or more palpable skin or subcutaneous lesions for which at least one of the following is true:
  -  A tissue diagnosis has been made for the lesion(s) in question, by prior cytologic or histologic evaluation (Category A1).
  -  A tissue diagnosis will be obtained for the lesion(s) in question by cytologic or histologic evaluation (Category A2).
  -  A tissue diagnosis is not available, but a clinical diagnosis of melanoma or benign lesion is available with a high degree of confidence. Examples are hemangiomas, skin tags, seborrheic keratoses, dermatofibromas, lipomas, or growing pigmented skin lesions that are comparable to other cutaneous metastases of melanoma in the same patient (Category B).
  -  All patients must have the ability and willingness to give informed consent and must be age 18 years or older at the time of study entry.
  Exclusion Criteria:
  -  Known or suspected allergy to the adhesive skin markers or water-soluble ink used for the labeling of lesions.
  -  Very fragile skin that may be susceptible to injury from adhesive markers.
  -  Patients in whom there is a medical contraindication or potential problem in complying with the requirements of the protocol, in the opinion of the investigator.

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

Clinical trial: A Study of AMNN107 in the Treatment of Metastatic and/or Inoperable Melanoma Harboring a c-Kit Mutation

Summary: The purpose of this study is to determine whether nilotinib is efficacious in the treatment of metastatic and/or inoperable melanoma harboring a c-Kit mutation.

Detailed description: This trial began as a multi-center, randomized, Phase III, controlled trial for nilotinib vs (DTIC) dacarbazine to assess the efficacy and safety of nilotinib (400 mg bid) in patients with c-Kit mutated metastatic and/or inoperable melanoma. The study was open to patients with mucosal or acral melanoma.
  Due to substantial difficulties identifying and recruiting eligible patients, the trial design was altered from a randomized, two-arm, Phase III study to a single-arm, Simon two-stage Phase II study with protocol Amendment 2 (27-Jul-2011). While the original protocol required the recruitment of 120 patients, this amendment required the study to recruit only 41 patients (patients randomized to nilotinib prior to Amendment 2 were to be counted in this total, but those randomized to dacarbazine ( DTIC ) DTIC were not). Patients randomized to DTIC were allowed to cross-over to nilotinib, either immediately or at the time of progression.

Eligibility: Inclusion Criteria:
  1. Histologically confirmed mucosal or acral 2. Presence of a c-Kit mutation of exon 9, 11 or 13, or mutations Y822D and mutations D820Y, Y823D of exon 17, as confirmed by the central laboratory 3. Stage III unresectable or stage IV disease 4. The presence of one or more measurable lesions as detected by radiological or photographic methods and assessed according to RECIST 1.0. Lesions must have a size of at least 10mm at longest diameter (using a slice thickness of 5 mm)or double the slice thickness to be considered a target lesion. Target lesions should not be selected in previously irradiated fields unless there is clear evidence of progression 5. WHO performance status 0 - 2
  Exclusion Criteria:
  1. C-Kit mutation of exons 17(except mutations D820Y, Y822D or Y823D) or any other exon not allowed by the inclusion criteria
  2. Patients with c-Kit amplifications only and no mutation
  3. Patients with any history of brain metastases
  4. Patients who have had any prior treatment with TKIs
  5. Patients receiving medications or herbal extracts which interfere with nilotinib metabolism which are not discontinued by the time of the baseline visit
  6. Acute or chronic liver or renal disease considered unrelated to melanoma
  Other protocol-defined inclusion/exclusion criteria may have applied.

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

Clinical trial: Study of BMS-650032 With Peginterferon Alfa-2a Plus Ribavirin

Summary: The purpose of this study is to identify one or more doses of BMS-650032 that, when used in combination with pegylated-interferon alpha and ribavirin are safe and demonstrate sufficient activity against hepatitis C virus (Genotypes 1 and 4).


Eligibility: Inclusion Criteria:
  -  Subjects chronically infected with HCV genotype 1 (Phase 2a and Phase 2b)
  -  Subjects chronically infected with HCV genotype 4 (Phase 2b only)
  -  HCV RNA viral load of ≥ 10*5* IU/mL at screening
  -  BMI of 18 - 35 kg/m² at screening
  Exclusion Criteria:
  -  Cirrhosis (Phase 2a only)
  -  Decompensated cirrhosis (Phase 2b)
  -  Co-infection with HBV or HIV
  -  Hepatocellular carcinoma
  -  Prior treatment with anti-HCV drugs

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

Clinical trial: An Immunonutritional Approach to the Prevention of Skin Cancer

Summary: Skin cancer incidence continues to rise and ultraviolet radiation (UVR) in sunlight is the principal cause. Solar UVR can promote cancer development through its ability to suppress the immune system. The purpose of this study is to determine whether dietary supplementation with omega-3 polyunsaturated fatty acids can protect human skin from UVR-induced immunosuppression.

Detailed description: Skin cancer is one of the most common human cancers with a rising incidence and considerable negative impact on human health. Exposure to ultraviolet radiation (UVR) in sunlight is the major aetiological factor in skin cancer initiation and progression. Human case-control studies have reported an inverse relationship between dietary fish or omega-3 polyunsaturated fatty acid (PUFA) intake and occurrence of non-melanoma skin cancer. Omega-3 PUFA have the potential to reduce the risk of photocarcinogenesis primarily by their ability to reduce production of prostaglandin E2 and consequently photoimmunosuppression. To date, no studies have assessed the impact of omega-3 PUFA on skin photoimmunosuppression in humans.
  OBJECTIVE: To examine the potential of dietary omega-3 PUFA to protect against UVR-induced cutaneous immunosuppression in humans.
  STUDY DESIGN: A double-blind randomised controlled nutritional study in 64 healthy human volunteers with nickel sensitivity. Volunteers will receive 3 months dietary supplementation with either omega-3 PUFA (n=32) or gelatine (n=32) both provided in identical gelatine capsules.
  The aim is to quantify the influence of omega-3 PUFA on:
  1. UVR-induced suppression of clinical contact hypersensitivity (CHS) responses
  2. UVR-induced modulation of epidermal Langerhans cell trafficking
  3. UVR-induced modulation of levels of immunoregulatory mediators

Eligibility: Inclusion Criteria:
  -  Pre-menopausal females
  -  Sun-reactive skin type I / II
  -  Reporting allergy to jewellery with nickel content
  Exclusion Criteria:
  -  History of atopy
  -  History of skin cancer
  -  History of a photosensitivity disorder
  -  Sunbathing (including sunbeds) in the last 3 months
  -  Pregnancy
  -  History of cardiac disease
  -  Taking photoactive medicine
  -  Not able to eat fish or gelatine
  -  Taking fish oil supplements prior to the study

Relevance to patient case: not relevant