araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: VinCaT: Vinorelbine, Carboplatin and Trastuzumab in Advanced Her-2 Positive Breast Cancer

Summary: The purpose of this study is to evaluate the activity and safety of the combination of vinorelbine, carboplatin and trastuzumab in HER2-positive metastatic breast cancer.

Detailed description: The addition of trastuzumab to chemotherapy containing anthracyclines or taxanes has improved survival in patients with Her-2 positive metastatic breast cancer, but newer combinations with less toxicity and cross resistance are needed. Early clinical studies have suggested that the combination of vinorelbine, carboplatin and trastuzumab can be active against metastatic breast cancer, with less toxicity. In this phase II single center trial, 39 patients will be enrolled to evaluate the activity and safety of this combination.

Eligibility: Inclusion Criteria:
  -  Histological or cytological diagnosis of breast cancer
  -  Stage IV disease
  -  None or at most one prior treatment for metastatic disease (prior treatment with trastuzumab for metastatic disease is not permitted)
  -  Overexpression of HER-2 (immunohistochemistry 3+) or genetic amplification of c-erbB2/neu (FISH+)
  -  ECOG Performance Status 0-2
  -  Age >18 and < 75 years
  -  Left Ventricular Ejection Fraction (LVEF) >50%
  -  Life expectancy >3 months
  -  Signed informed consent
  Exclusion Criteria:
  -  Absence of measurable or evaluable disease
  -  Life expectancy < 3 months
  -  ECOG performance status > 2
  -  History of prior malignancy in the last 5 years (other than adequately treated non-melanoma skin cancer or excised cervical carcinoma in situ).
  -  Previous chemotherapy with vinorelbine or carboplatin (as adjuvant therapy or for metastatic disease)
  -  Previous therapy with trastuzumab for metastatic disease (previous adjuvant therapy with trastuzumab is permitted)
  -  Neutrophil < 2000/mm3, platelets < 100,000/mm3, haemoglobin < 9 g/dl
  -  Creatinine > 1.5 x the upper normal limits
  -  GOT and/or GPT > 2.5 x the upper normal limits and/or Bilirubin > 1.5 x the upper normal limits in absence of hepatic metastases
  -  GOT and/or GPT > 5 x the upper normal limits and/or Bilirubin > 3 x the upper normal limits in presence of hepatic metastases
  -  Congestive hearth failure or history of congestive heart failure, unstable angina pectoris even if it is medically controlled, myocardial infarction, clinically significant valve disease, uncontrolled arrhythmia
  -  Any concomitant pathology that would, in the investigator's opinion, contraindicate the use of the drugs in this study
  -  Male gender
  -  Pregnant or lactating women
  -  Refusal or incapacity to provide informed consent
  -  Inability to comply with follow up

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: Study of Families With Melanoma

Summary: RATIONALE: A study that evaluates patients' lifestyle, skin, and blood and tissue samples may help doctors understand the risk factors for melanoma relapse.
  PURPOSE: This clinical trial is studying the risk factors for melanoma in families with melanoma.

Detailed description: OBJECTIVES:
  Primary
  -  Determine what lifestyle factors and which genes govern relapse from melanoma.
  Secondary
  -  Compare sun exposure and genes that cause melanoma in patients with melanoma vs healthy participants.
  -  Assess how unusual moles relate to sun exposure and genes that cause melanoma.
  OUTLINE: This is a multicenter, cohort study.
  Patients and healthy participants complete lifestyle questionnaires by mail and telephone. Some patients* and healthy participants undergo a skin examination to count moles and classify skin type (e.g., degree of freckling and wrinkling indicative of sun damage).
  NOTE: *Patients diagnosed with primary invasive melanoma after September 2005 do not need to consent to a skin examination.
  Patients and healthy participants also undergo blood collection for lymphocyte analysis, DNA extraction, and the measurement of minerals, vitamins, and beta carotene. Tissue samples from original diagnosis are examined by immunohistochemistry for gene expression and mutations, including CDKN2A and CDK4.
  Patients and healthy participants are followed annually.
  Peer reviewed and funded or endorsed by Cancer Research UK
  PROJECTED ACCRUAL: A total of 3,700 patients and healthy participants will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Meets 1 of the following criteria:
  -  Newly diagnosed primary invasive melanoma (patient group)
  -  Lentigo maligna malignant melanoma allowed
  -  Rare variants of melanoma allowed, including any of the following:
  -  Acral lentiginous
  -  Subungual
  -  Ear, nose, and throat
  -  Oropharyngeal
  -  Perineal
  -  Vaginal
  -  Vulval
  -  Rectal
  -  Nodal with no known primary
  -  Patients undergoing sentinel node biopsy are eligible
  -  No in situ melanoma, melanocytic intraepidermal neoplasia, or ocular melanoma
  -  Healthy participant meeting either of the following criteria (control group):
  -  Relative of a patient who was diagnosed with melanoma after September 2005
  -  Healthy volunteer who is age- and sex-matched for patients who were diagnosed with melanoma before October 2005
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: High-resolution Magnetic Resonance Imaging (MRI) Scans to Look for Spread of Melanoma to Nearby Lymph Nodes

Summary: The study is designed to see if a high-resolution MRI scan of lymph node areas near where a melanoma has been removed from the skin can pick up the spread of melanoma to those lymph nodes with a high degree of accuracy.

Detailed description: When a melanoma of the skin is diagnosed, there is some chance it can spread to nearby lymph nodes, and from there to other parts of the body. Currently, patients with melanoma at low risk for spreading to lymph nodes do not get the lymph nodes assessed except by a physical exam. Those at high risk for spreading to lymph nodes get one or more lymph nodes removed surgically to check for melanoma spread. But physical exam alone will often miss small areas of melanoma in lymph nodes; removal of lymph nodes by surgery is painful and can cause complications. Neither assessment tool is optimal.
  This study is designed to see if use of very high-resolution contrast-enhanced MRI scans of lymph node areas near the primary melanoma site in the skin can accurately detect small areas of melanoma spread to those lymph nodes. If this turns out to be the case, in the future, MRI scans could potentially be an alternative for assessing lymph nodes, compared to physical exams alone or surgical removal of the lymph nodes.
  In this study, patients with low risk melanoma will receive very high-resolution MRI scans of nearby lymph nodes every 6 months for 5 years of follow-up. If the MRI looks abnormal, the lymph nodes will be biopsied, and results from the biopsy compared to the results from the MRI.
  Patients with high risk melanoma will get a baseline MRI of the nearby lymph nodes, and then one or more lymph nodes will be removed (usually by sentinel lymph node biopsy) regardless of the MRI results. Again, results from the biopsy will be compared to the results from the MRI. MRI's will still be repeated every 6 months to assess whether lymph nodes not removed at surgery develop any changes.
  We plan to enroll 200 patients on this study and by the end of the study will have a measure of the sensitivity and specificity of high-resolution MRI scans in the detection of melanoma involvement of regional lymph nodes.

Eligibility: Inclusion Criteria:
  -  history of invasive cutaneous melanoma stages 1-3 within 2 years of treatment of the melanoma by primary excision
  -  eligible whether or not a sentinel lymph node biopsy or regional lymph node dissection has been performed
  -  adequate renal function (creatinine 2 or less)
  -  life expectancy 2 years of more
  Exclusion Criteria:
  -  history of severe claustrophobia precluding MRI scans
  -  known hypersensitivity or other contraindication to gadolinium contrast
  -  known presence of metastatic melanoma at sites beyond regional lymph nodes (stage 4)

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: MicroRNA Expression and Function in Cutaneous Malignant Melanoma

Summary: Spectrophotometric intracutaneous analysis (SIAscopy) is a new technique for imaging pigmented skin lesions and for diagnosing melanoma and non-melanoma skin cancer. The SIAscope is a portable system comprising of a laptop computer connected to a small handheld skin probe equipped with a light source. The skin lesion is interrogated with light of different wavelengths and the reflection spectra analysed by proprietary algorithms showing distribution, position and quantity of melanin, blood and collagen within the papillary dermis (the SIAgraphs). Earlier studies generated promising results and documented >80% specificity and sensitivity of SIAscopy for melanoma diagnosis. It has been suggested that this technique could be used for the initial screening and selection of pigmented lesion for excision. In this work we addressed the usefulness of SIAscopy for the clinical diagnosis of pigmented malignant melanoma in a prospective, blinded design.


Eligibility: Inclusion Criteria:
  -  Pigmented lesion
  Exclusion Criteria:
  -  No pigmented lesion

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: A Pilot Study to Evaluate Optical Spectroscopy of Pigmented Skin Lesions

Summary: The incidence of malignant melanoma has increased dramatically in recent decades. In 1930, the lifetime risk of an individual in the United States developing melanoma was 1 in 1,500. This has been exponentially increasing over the years with the risk estimated to be 1 in 75 in 2000 . According to the American Cancer Society, approximately 59,580 new cases of melanoma will be diagnosed in the United States in 2005 and about 7,770 people are expected to die of the disease.

Detailed description: The researcher ucan use special imaging devices to obtain information about a typical mole and melanoma and use this information to determine the different between malignant and benign melanized lesions. The imaging devices are, Modified Two Layer Diffuse Optical Spectroscopy,multi-spectral imaging, and Spatially Modulated Quantitative Spectroscopy can use to measure atypical moles and melanoma and correlate the results of the biopsy tissue histology.
  The imaging devices can quantify melanin, oxy and deoxy hemoglobin concentration, water, lipid and reduced scattering coefficients and can compare results to histopathologic. Atypical moles and melanoma have a different optical profile based on physiological parameters compared to benign nevus.

Eligibility: Inclusion Criteria:
  -  18 years or older.
  -  Have atypical mole/s and melanoma
  Exclusion Criteria:
  -  Age less than 18 years old.
  -  have NO atypical mole/s and melanoma

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: Kinase Genotyping of Gastro Intestinal Stomach Tumors (GISTs) From Patients Enrolled in Pfizer A6181112 Phase IIIb Trial

Summary: The purpose of this study is to determine the genetic makeup of gastro intestinal stomach tumors (GISTs) from patients enrolled in the A6181112 phase IIIb trial. Tumor samples will be screened for mutations and this information will be used to determine whether the progression-free survival of patients being treated with the cancer medication sunitinib is related to the underlying genotype of their GIST.

Detailed description: In this companion study, we will analyze the genomic DNA from the GIST tumor specimens of patients enrolled in the in the A6181112 phase IIIb trial at participating U.S. and ex-U.S. medical centers. Specifically, GIST samples will be screened for mutations in KIT gene exons 9, 11, 13 and 17, and PDGFRA gene exons 12, 14 and 18, to determine the primary kinase genotype. Subset analyses will be performed and compared with the overall PFS rates observed in patients with primary and secondary imatinib resistance. Based on data from a previous phase I/II trial, our hypothesis is that patients with either primary or secondary imatinib resistance having a KIT exon 9-mutant or WT GIST will have a longer PFS when treated with sunitinib than patients with exon 11-mutant GIST. We further hypothesize that this difference will be observed among patients treated with high-dose imatinib.

Eligibility: Inclusion Criteria:
  -  Patients enrolled in Pfizer A6181112
  Exclusion Criteria:
  -  Patients who do not consent for analysis of their tumor in this companion study

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: Epirubicin or Not in Patients With TOP2A (Topoisomerase (DNA) II Alpha (170kD)) Normal Early Breast Cancer

Summary: The Danish Breast Cancer Cooperative Group (DBCG) wishes to clarify if recurrence-free and overall life expectancy is longer after docetaxel and cyclophosphamide compared to epirubicin and cyclophosphamide followed by docetaxel in patients with TOP2A normal and operable breast cancer.

Detailed description: In DBCG trial 89D we in more than 1,200 patients showed that substitution in CMF chemotherapy of methotrexate with epirubicin improves survival for patients with primary and operable breast cancer. In a retrospective evaluation we have also shown that approximately 20% of all patients in 89D have tumors with numerical changes of the TOP2A gene, and that only patients with abnormal TOP2A benefit from epirubicin. In the current trial the DBCG wishes to clarify if recurrence-free and overall life expectancy is longer after docetaxel and cyclophosphamide compared to epirubicin and cyclophosphamide followed by docetaxel in patients with TOP2A normal and operable breast cancer.

Eligibility: Trial Population:
  1. Younger than 35, but at least 18 years of age
  2. Hormone receptor-negative tumor (ER- and PgR-negative) and 35 to 75 years of age.
  3. Hormone receptor-positive tumor, 35 to 59 years of age and presenting at least one of the following characteristics: spread to lymph nodes, tumor > 2 cm, degree of malignancy II-III or HER2-positive.
  Inclusion Criteria:
  1. Signed informed consent
  2. Histologically confirmed invasive breast carcinoma which has been micro-radical removed by breast preserving surgery or mastectomy according to DBCG's guideline
  3. TOP2A normal tumor (score of 0.8 - 2.0)
  Exclusion Criteria:
  1. Pregnancy or breast-feeding
  2. Earlier medical cancer treatment, including docetaxel, epirubicin or cyclophosphamide.
  3. Distant metastases or bilateral breast cancer (excluded after checking by means of chest radiography, bilateral mammography and normal blood samples as a minimum).
  4. Other active, malign disease in the latest 5 years, except for adequately treated and cured carcinoma in situ cervices uteri or non-melanoma skin cancer.
  5. Comorbidity score > 3 (patients with a score of 1-2 start at dose level -1).
  6. Treatment with a non-approved product or test product in the latest 30 days.
  7. Known severe hypersensitivity to docetaxel, epirubicin or cyclophosphamide or auxiliary agents in these products.

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

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: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: Detection of Human Cytomegalovirus in the Saliva

Summary: Direct DNA amplification, viral isolation and specific antibody measurement in saliva
  1. From children in day care centers (samples collection will take place during a single week)
  2. From children coming at the emergency department of our hospital during a three months period.
  Sample collection will be done by the pediatrician the nurse, or one of the authorized investigators of the study.

Detailed description: Salivary collection kit. Collection of salivary at the internal face of the mooth. 3 swab for DNA research, 1 for antibodies research and 1 for virus isolation by cell growth.

Eligibility: Inclusion Criteria:
  -  parents consent
  -  child aged from 3months to 6 years
  -  child in day care centers or emergency department
  Exclusion Criteria:
  -  Refuse of participation

Relevance to patient case: not relevant
Patient case: 66-year-old female with melanoma; genetic feature: KIT amplification

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: 66-year-old female with melanoma; genetic feature: KIT amplification

Clinical trial: Study Evaluating the Effectiveness of the Use of Prosthesis With Trans-Obturator Way for the Correction of Anterior Prolapse

Summary: The classical surgical treatment of an anterior prolapse is the use of autologous tissue. In front of the high rate of recurrences with this technique, the use of synthetic prosthesis made their appearance. But the drawback of the use of prosthesis is their tolerability. The system Perigee®, a prosthetic kit by trans-obturator way, was designed to obtain high efficiency in the correction of the prolapse while reducing the risk of complications. The lack of prospective and randomized studies makes difficult to assess the interest. The investigators, therefore, have put in place a randomized prospective study seeking the evaluation of the system Perigee® compared to the conventional surgical technique.


Eligibility: Inclusion Criteria:
  -  Women over 18 years old
  -  Genital anterior prolapse requiring surgical correction and with stage III or IV in the classification of Pelvic Organ Prolapse - Quantification or POP-Q
  -  Ability to understand the information and to sign a consent form
  -  Patients wishing an intervention because of the inconvenience caused by the prolapse.
  Exclusion Criteria:
  -  Prolapse stage <III in the classification POP-Q, and prolapse without functional inconvenience
  -  Progressive or latent infection, or signs of tissue necrosis in the clinical examination
  -  Troubles resulting in an unacceptable risk of post-surgery complications investigated at the interview with the patient (disorders of blood clotting, immune system disorders, progressive diseases….)
  -  Mobility of the lower limbs reduced (not permitting the positioning for the surgery)
  -  Pregnancy or any desire of pregnancy during the study, within two years
  -  Pelvic surgery in the last 6 months
  -  Patients who have had radiotherapy of the pelvic area in an irrespective time
  -  A history of pelvic cancer
  -  Known hypersensitivity to any component of the prosthesis (polypropylene)
  -  Uncontrolled diabetes (HbA1c> 8%)
  -  Treatment modifying the immune response (immuno-modulators), current or stopped for less than one month
  -  Inability to understand the information and to sign a consent
  -  A person not subject to social security, deprived of freedom, or under legal guardian

Relevance to patient case: not relevant