araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Clinical Research on the Treatments on Advanced Malignant Melanoma by Combining in Situ Immunotherapy and Laser Therapy

Summary: To evaluate the therapeutic efficacy and the safety for the treatments on malignant melanoma by combining semiantigen dinitrophenyl (DNP) in situ immunotherapy and laser therapy, and carry out monitoring on related immunological parameters of the patients.
  72 patients with stage III (b or c) or stage IV skin (which could not be excised by operations) malignant melanoma were treated by combining simple semiantigen DNP in situ immunotherapy and laser therapy respectively. The changes in peripheral blood CD4+CD25+Treg regulatory T cells (Treg), CD8+T, CD4+ T effector cells, IL-10, TGF-β and other inhibitory cytokines of the patients were detected, the changes in anti-DNP IgG antibody titer was monitored, the relationship between delayed-type hypersensitivity (DTH) and survival was observed, and results of clinical follow-ups were also examined.


Eligibility: Inclusion Criteria:
  -  pathologically diagnosed as malignant melanoma, HMB45 (+～++++), S100 (+～++++);
  -  Basically normal hepatic and renal functions as well as results for blood routine examinations;
  -  Karnofsky score ≥ 60;
  -  Anticipated life span for more than three months;
  -  They were all malignant melanoma patients suffering from skin malignant melanoma of local or distal metastasis unsuitable for operations in their skin;
  -  The therapeutic efficacy was objectively evaluated with reference to the criteria from WHO;
  -  All of the subjects had signed the informed consent and had been submitted and approved by the ethic committee of the hospital, the compliance was good and follow-ups can be easily carried out.

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Trial of Vemurafenib and Cobimetinib in Patients With Advanced BRAFV600 Mutant Melanoma

Summary: This trial explores the immunologic effects of vemurafenib (BRAF inhibitor) and cobimetinib (MEK inhibitor), administered alone and in combination, to patients with advanced BRAF V600E/K mutant melanoma.


Eligibility: Inclusion Criteria:
  -  Signed informed consent
  -  Signed HIV testing consent
  -  Life expectancy ≥ 12 weeks
  -  Able to swallow pills
  -  ECOG performance status 2 or less
  -  Adequate bone marrow function
  -  Adequate renal function
  -  Adequate liver function
  -  Negative urine pregnancy test within 7 days prior to commencement of dosing in premenopausal women
  -  Histological diagnosis of unresectable AJCC stage III or stage IV, BRAFV600E/K mutant melanoma
  -  Measurable disease
  -  Accessible tumor that can be biopsied
  -  Naive to targeted therapy (Prior immune-based therapy in the adjuvant setting or for advanced disease will be allowed if >2 weeks from study entry)
  Exclusion Criteria:
  -  Active systemic infection
  -  Active autoimmune disease or history of known or suspected autoimmune disease
  -  Active brain metastases or leptomeningeal metastases
  -  Treatment with any immunomodulatory medication within 4 weeks of initiation of study therapy.
  -  Positive test for hepatitis B virus
  -  Positive test for hepatitis C virus
  -  Positive test for human immunodeficiency virus (HIV)
  -  Pregnant, lactating or breast feeding women
  -  Localized radiation therapy within the last 14 days
  -  History of malabsorption
  -  No consumption of the following within 7 days prior to start of treatment:
  -  St. John's wort or hyperforin (potent cytochrome P450 CYP3A4 enzyme inducer)
  -  Grapefruit juice (potent cytochrome P450 CYP3A4 enzyme inhibitor
  -  History or evidence of cardiovascular risk
  -  History or evidence of retinal pathology

Relevance to patient case: definitely relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Complete Lymph Node Dissection vs Watchful Waiting in Patients With Malignant Melanoma (Thickness of 1,0mm+ and Evidence of Metastases in the Sentinel Node)

Summary: Sentinel lymph node biopsy (SLNB) is considered as standard diagnostic procedure in melanoma patients carrying a reasonable risk for metastases. In numerous studies the prognostic role of micro metastases in the sentinel node (SN) was described. However, the prognostic value of a complete lymph node dissection in patients with a positive SN is still unclear.
  This study was planned to analyse the survival outcome of patients with a positive SN receiving complete lymphadenectomy versus watchful waiting.


Eligibility: Inclusion Criteria:
  -  Cutaneous melanoma with a tumour thickness of at least 1,00mm
  -  Positive sentinel node with micro metastases of max. 2mm in diameter
  Exclusion Criteria:
  -  Mucosal or ocular melanoma
  -  Cutaneous melanoma located in the head/neck region
  -  Evidence of satellite, in transit or local metastases / recurrences
  -  Macro metastases of the SN or micro metastases of >2mm in diameter
  -  Additional immune-suppressive therapy
  -  Pregnant of lactating women

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

Summary: The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same small region. The purpose of this study is to understand the medical and behavioral consequences of these syndromes.

Detailed description: People with 3q29 deletion syndrome are missing a small part of a region on human chromosome 3, and people with 3q29 duplication syndrome have an extra part of their chromosome 3. Sometimes babies are born with a deletion or duplication of part of human chromosome 3, even though their parents have an intact chromosome 3. This is called de novo (or new) abnormalities.

Eligibility: Inclusion Criteria:
  -  Diagnosis of 3q29 deletion or 3q29 duplication
  -  Consent from parents or guardians or an adult with 3q29 deletion or 3q29 duplication that does not require a legal guardian or an adult who is the healthy sibling of an individual with 3q29 deletion or 3q29 duplication or a healthy age-matched control
  Exclusion Criteria:
  -  Clinically significant medical disease that would prohibit participation in the study procedures

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Skin Care Behaviors Among Melanoma Survivors and Their Families

Summary: A patient's sun-related behavior greatly influences the likelihood of that patient developing melanoma, the most dangerous form of skin cancer. Prior research shows current education strategies on inducing preventative behaviors such as wearing sun-protection clothing and wearing sunscreen are inadequate at effectively changing behavior when used in isolation -- patients are aware of the dangers of not engaging in these preventative measures but forgo them nonetheless.
  We are investigating methods to positively influence sun protection behaviors among melanoma survivors and their families. The first objective is to compare patient and familial sun exposure and cancer screening activity before and after patients' diagnosis with primary melanoma. The second objective is to note if hanging a "Melanoma Survivor" plaque in a melanoma survivor's bathroom will significantly affect the survivor's and broader family's sun exposure and cancer screening activity.
  Our sample of patients consists of survivors of primary cutaneous melanoma less than 4.0 mm in depth who come through the Dermatology Clinic at Dartmouth-Hitchcock Medical Center and voluntarily choose to participate in the study after being informed of the nature of the research. These patients complete a confidential survey assessing a change in sun exposure related activities immediately after their diagnosis. After they fill out the survey, we will ask them if they could nominate a family member to whom we will explain the purpose of our research and confidentially ask an additional set of questions to evaluate the broader impact of a melanoma diagnosis. From our original sample, we will randomly choose a few families who would display the survivor plaque in their primary bathroom. After six-twelve months, during the patient's follow up visit, will ask again both groups of patients and family members to fill out another survey to assess sun exposure related activity.
  On the surveys, no names are recorded. Everything is anonymous.


Eligibility: Inclusion Criteria:
  -  patient has melanoma diagnosis within past 10 years less than 4mm in depth
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Summary: The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including difusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Detailed description: Phelan-McDermid syndrome (PMS) or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about the PMS phenotype and the biological pathways associated with ID and ASD in the disorder, and to establish the foundation for future clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS.
  Individuals with PMS will be asked to participate in this study if they are between the ages of 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.
  The study involves 5 visits (3 on site visits ) over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. Individuals who have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due will have them done as part of the research study.

Eligibility: Inclusion Criteria:
  -  Individuals 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3 gene
  -  English speaking individuals
  Exclusion Criteria:
  -  Individuals younger than 3 or older than 21 at time of enrollment

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: A Study for Lymphocele and Lymphorrhea Control Following Inguinal and Axillary Radical Lymph Node Dissection

Summary: Patients undergoing groin or axillary Radical lymph node dissection (RLND) or completion lymph node dissection (CLND, after positive sentinel lymph node biopsy (SLNB) for melanoma or breast cancer were randomized in a controlled trial for surgical dissection technique. Harmonic scalpel dissection were compared with classic dissection in term of lymphocoele and oedema.


Eligibility: Inclusion Criteria:
  -  All adult patients undergoing groin or axillary Radical lymph node dissection (RLND) or completion lymph node dissection (CLND), after positive sentinel lymph node biopsy (SLNB) for melanoma or breast cancer were included.
  Exclusion Criteria:
  -  Patient with a past medical history of contralateral lymph node dissection or other cause for lymphedema (trauma, deep venous thrombosis, radiotherapy, etc.) were excluded.

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Detection of BRAF Mutation on FNAB From Papillary Thyroid Carcinoma

Summary: Immunohistochemical detection of the BRAF-V600E mutation on pre-operative fine needle aspiration biopsy (FNAB) from patients suspected for papillary thyroid carcinoma, using the mutation specific antibody VE1.

Detailed description: The BRAF mutation is reported to be present in approximately 50% of papillary thyroid carcinomas (PTC). The mutation has been associated with poor prognosis and more advanced disease stage. Therefore, pre-operative detection of the BRAF-V600E mutation may be of clinical interest in order to individualize treatment of patients with BRAF positive PTC.
  FNABs are performed immediately before the thyroid operation, and BRAF-V600E detection using VE1 is performed on clots. The VE1 stain is compared to the mutation status of the removed cancer or control tissue using the Cobas test.

Eligibility: Inclusion Criteria:
  -  Bethesda system of reporting thyroid cytology (BSRTC) group 5-6 on pre-operative FNAB from the nodule (>1cm)
  -  Undergoing thyroid surgery (histology of index nodule)
  Exclusion Criteria:
  -  Not undergoing thyroid surgery

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Study to Analyze Mutations in V600 BRAF Oncogen in Participants With Metastatic Melanoma

Summary: This is a national, multicenter, cross-sectional epidemiological study in adult Spanish participants diagnosed with advanced or metastatic melanoma.


Eligibility: Inclusion Criteria:
  -  Valid tumor samples from participants diagnosed with Stage IIIc or IV melanoma
  -  Written informed consent granted
  Exclusion Criteria:
  - Do not fulfill one or more inclusion criteria

Relevance to patient case: definitely relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Employment and Quality of Life in Patients With Malignant Melanoma

Summary: Within the first year after diagnosis, data on employment and quality of life will be collected and evaluated in patients with malignant melanoma


Eligibility: Inclusion Criteria:
  -  first diagnosis of malignant melanoma stage 0 to stage IIIC within the last 6 weeks
  -  written informed consent
  Exclusion Criteria:
  -  diagnosis of malignant melanoma stage IV
  -  inability to follow the protocol

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Study of Efficacy and Safety of Dabrafenib and Trametinib Combination Therapy in Japanese Patients With BRAF V600E Stage IV NSCLC

Summary: This is an open-label, multicenter, non-randomized, single arm, phase II study to assess efficacy and safety of the dabrafenib and trametinib combination in Japanese patients with any line, stage IV NSCLC harboring a confirmed BRAF V600E mutation.
  Patients will receive oral dabrafenib twice daily and oral trametinib once daily combination therapy. Patients may continue study treatment until disease progression, unacceptable adverse events, start of a new anti-cancer therapy, consent withdrawal, death, or end of the study. Patients who have met the criteria for disease progression (PD) according to RECIST v1.1 may continue to receive study treatment if the investigator believes the patient is receiving clinical benefit and the patient is willing to continue on study treatment. After discontinuation of study treatment, all patients will be followed for survival until death, lost to follow-up, withdrawal of consent, or end of study.


Eligibility: Inclusion Criteria:
  -  Histologically- or cytologically-confirmed diagnosis of NSCLC stage IV (according to AJCC Staging 7th Edition)
  -  Presence of a BRAF V600E mutation in lung cancer tissue. BRAF V600E mutation tested by local laboratory (e.g. study center laboratory, local laboratory company) with proper quality control and license to operation by local health authority is allowed.
  -  Measurable disease according to RECIST v1.1.
  Exclusion Criteria:
  -  Previous treatment with a BRAF inhibitor (including but not limited to dabrafenib, vemurafenib, encorafenib, and XL281/BMS-908662) or MEK inhibitor (including but not limited to trametinib, cobimetinib, binimetinib, AZD6244, and RDEA119) prior to start of study treatment
  -  Patients with brain metastases are excluded if their brain metastases are:
  -  Symptomatic OR
  -  Treated (surgery, radiation therapy) but not clinically and radiographically stable 3 weeks after local therapy (as assessed by contrast enhanced magnetic resonance imaging [MRI] or computed tomography [CT]), OR
  -  Asymptomatic and untreated but >1 cm in the longest dimension
  -  History of malignancy with confirmed activating RAS mutation at any time.
  -  History of interstitial lung disease or pneumonitis
  -  A history or current evidence of retinal vein occlusion (RVO)
  -  Current evidence of unstable aneurysm or one that needs treatment
  Other protocol-defined inclusion/exclusion may apply.

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Comparing Pressure Versus Simple Adhesive Dressing After Mohs Reconstruction

Summary: The purpose of this study is to determine whether using a pressure- vs. simple adhesive dressing affects the postoperative course and wound healing outcomes following Mohs surgery.

Detailed description: The investigators will randomize patients undergoing Mohs surgery to receive either a pressure or a simple adhesive dressing following their procedure. The hypothesis is that patients with the simple adhesive dressings will be more satisfied and comfortable with their wound care on follow-up. These patients are also expected to cite greater convenience managing the simple dressing at home. Finally, the investigators anticipate no difference in the number of postoperative complications between the two groups and expect that there will be a lower cost associated with the simple adhesive dressing as compared to the pressure dressing.

Eligibility: Inclusion Criteria:
  -  Patients will be considered for enrollment if they have been referred to a Mohs surgeon for consideration of Mohs surgery for non-melanoma skin cancer.
  Exclusion Criteria:
  -  Lack of indication for Mohs
  -  Significant comorbidities
  -  Case of a high-risk location or tumor size which necessitates consultation with other specialties in advance.

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Study of Anti-telomerase T CD4 Immunity in Melanoma

Summary: The impressive clinical responses obtained with immune checkpoint inhibitors (anti-PD-1/PDL-1, anti-CTLA-4) indicate that the presence of preexisting antitumor immune response might be required for their efficacy and highlight the critical role of antitumor T cell immunity.
  Recent progresses on the field of tumor immunology underline the critical role of CD4 helper 1 T lymphocyte (TH1) in the control of innate and adaptive anticancer immunity. Therefore, monitoring tumor specific TH1 response could be relevant in cancer patients.
  In order to monitor tumor-specific CD4 Th1 responses in most cancer patients, the investigators team have previously described novel promiscuous peptides (referred as UCP: Universal Cancer Peptides) derived from human telomerase (TERT), a prototype of shared tumor antigen.
  By using UCP-based immuno-assay, UCP specific Th1 immune responses will be evaluated in this study in melanoma before and after treatment.


Eligibility: Inclusion Criteria:
  -  patient with melanoma, any stade, without history of anti-cancer treatment (surgery, chemotherapy, targeted therapy, immunotherapy...) except for patients with stade IV melanoma for which immunotherapy or targeted therapy is considered. In this case, a first-line chemotherapy treatment is allowed
  -  written informed consent
  Exclusion Criteria:
  -  patient with immunosuppressive treatment
  -  active autoimmune diseases, HIV, hepatitis C or B virus
  -  patients under guardianship, curatorship or under the protection of justice, pregnant women

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Family Lifestyle Actions and Risk Education Study

Summary: The overall purpose of this study is to test the feasibility, acceptability, and preliminary efficacy of a family-focused behavioral intervention ("FLARE", which stands for Family Lifestyle Actions and Risk Education) that aims to improve adherence to melanoma preventive behaviors among children at elevated risk for the disease.


Eligibility: Inclusion Criteria:
  Children
  -  Are 8-17 years old AND
  -  Are at risk for melanoma due to having a first degree relative with a history of melanoma and/or at least 3 second or third degree relatives on the same side of the family with a history of melanoma AND/OR
  -  Have personally received genetic testing for the CDKN2A/p16 genetic mutation and/or has one or more family members who received CDKN2A/p16 testing
  Adults
  -  Are at least 18 years old AND
  -  Are the primary caregiver for the child participating in the study (defined as the individual who is responsible for daily implementation of health-related tasks for the child) AND
  -  Have at least one child under age 18 who is living in the same household AND
  -  Have a personal history of melanoma and/or family history of melanoma) AND/OR
  -  Have personally received genetic testing for the CDKN2A/p16 genetic mutation and/or has one or more family members who received CDKN2A/p16 testing
  Exclusion Criteria:
  -  Individuals who do not speak, read/write English will be excluded because FLARE involves regular interaction between study staff and research participants in English and completion of study questionnaires and interviews in English

Relevance to patient case: not relevant
Patient case: 45-year-old female with Melanoma. Genetic variant: BRAF (V600E), CDKN2A Deletion. Other conditions: None.

Clinical trial: Clinical and Histological Features of Head and Neck Melanoma

Summary: The worldwide incidence of cutaneous melanoma has been increasing for the last 30 years in western populations. Among all melanomas, those located on the head and neck are more frequent than expected regarding the surface of this anatomical area, occur in older subjects than melanomas at other sites and have a worse prognosis than melanomas at other sites. The question whether head and neck melanomas could be a distinct entity has been debated.

Detailed description: Aim of the study was to compare clinical and histological characteristics between head and neck melanomas and melanomas at other sites.

Eligibility: Inclusion Criteria:
  -  patients with melanoma
  -  melanoma diagnosed between January 2004 and December 2011
  -  patients living in Champagne-Ardenne

Relevance to patient case: not relevant