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

Clinical trial: A Phase I Study of Oral LGX818 in Adult Patients With Advanced or Metastatic BRAF Mutant Melanoma

Summary: CLGX818X2101 is a first-time in-human, phase I study to establish the maximum tolerated dose (MTD) and/or recommended phase 2 dose (RP2D) of daily administered LGX818 (daily, twice daily and/or every-other-day), a RAF kinase inhibitor. Patients with locally advanced or metastatic melanoma harboring the BRAF V600 mutation (during dose escalation phase and expansion phase) and patients with metastatic colorectal cancer harboring the BRAF V600 mutation (during the expansion phase) will be enrolled. The study consists of a dose escalation part were cohorts of patients will receive escalating oral doses of LGX818, followed by a safety dose expansion part were patients will be treated with oral dose of LGX818 given at the MTD or RP2D.


Eligibility: Inclusion Criteria:
  For the dose escalation phase:
  1. Histologically confirmed diagnosis of locally advanced or metastatic melanoma (stage IIIB to IV per American Joint Committee on Cancer [AJCC]). For the dose expansion phase: (i) Histologically confirmed diagnosis of locally advanced or metastatic melanoma (stage IIIB to IV per American Joint Committee on Cancer [AJCC]), or (ii) confirmed diagnosis and non-resectable advanced metastatic colorectal cancer (mCRC) for which no further effective standard therapy exists.
  2. Written documentation of BRAF V600E mutation, or any other BRAF V600 mutation.
  3. Evidence of measurable disease
  Exclusion Criteria:
  1. Previous therapy with a MEK inhibitor.
  2. Symptomatic or untreated leptomeningeal disease.
  3. Symptomatic or untreated brain metastasis.Patients previously treated for these conditions that are asymptomatic in the absence of corticosteroid therapy are allowed to enroll. Brain metastasis must be stable with verification by imaging.
  4. Known acute or chronic pancreatitis.
  5. Clinically significant cardiac disease
  6. Impairment of gastrointestinal (GI) function or GI disease that may significantly alter the absorption of oral LGX818
  7. Previous or concurrent malignancy. Exceptions to this exclusion criteria include: adequately treated basal cell or squamous cell skin cancer; in situ carcinoma of the cervix, treated curatively and without evidence of recurrence for at least 3 years prior to study entry; or other solid tumor treated curatively, and without evidence of recurrence for at least 3 years prior to study entry.
  8. Pregnant or nursing (lactating) women, where pregnancy is defined as the state of a female after conception and until the termination of gestation, confirmed by a positive hCG laboratory test (> 5 mIU/mL).
  9. History of thromboembolic or cerebrovascular events within the last 6 months
  Other protocol-defined inclusion/exclusion criteria may apply

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

Clinical trial: miRNA Machinery in Melanoma, Melanoma Metastases and Benign Melanocytic Naevi

Summary: MicroRNAs (miRNAs) are very small endogenous RNA molecules about 22-25 nucleotides in length, capable of post-transcriptional gene regulation. miRNAs bind to their target messenger RNAs (mRNAs), leading to cleavage or suppression of target mRNA translation based on the degree of complementarity. miRNAs have recently been shown to play pivotal roles in diverse developmental and cellular processes and linked to a variety of skin diseases and cancers. In the present study, the investigators examines the expression profiles of miRNA machinery components such as miRNA maturation and transport factors, microprocessor complex and RISC subunits in cutaneous melanoma, cutaneous melanoma metastases and benign melanocytic nevi.

Detailed description: Patients with cutaneous melanoma, cutaneous melanoma metastases and benign melanocytic nevi were included in the study. Punch biopsies were harvested from the center of the tumors. The miRNA machinery components were detected by quantitative real-time reverse transcriptase polymerase chain reaction.

Eligibility: Inclusion Criteria:
  -  cutaneous melanoma
  -  cutaneous melanoma metastases
  -  benign melanocytic nevi
  Exclusion Criteria:
  -  other forms of malignancy

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

Clinical trial: Comparative Microarray Analysis in Primary Cutaneous Malignant Melanoma

Summary: Perturbations in microRNA (miRNA) expression profiles has been reported for cutaneous malignant melanoma (CMM). This study will be an exploratory analysis by miRNA expression profiling using microarrays.

Detailed description: Perturbations in microRNA (miRNA) expression profiles has been reported for cutaneous malignant melanoma (CMM). With regards to a rapidly growing number of newly discovered miRNA sequences, the availability of up-to-date miRNA expression profiles for primary cutaneous malignant melanoma (PCMM), cutaneous malignant melanoma metastases (CMMM) and benign melanocytic naevi (BMN) is limited. Patients with PCMM, CMMM and BMN are included in the study to perform an exploratory analysis by miRNA expression profiling using microarrays. Expression levels of miRNA candidates will be validated by TaqMan real-time quantitative polymerase chain reaction (RT-PCR).

Eligibility: Inclusion Criteria:
  -  Primary Cutaneous Malignant Melanoma
  -  Cutaneous Malignant Melanoma Metastases
  -  Benign Melanocytic Naevi
  Exclusion Criteria:
  - Other Skin Cancer than Primary Cutaneous Malignant Melanoma

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

Clinical trial: Study on the Evolution of Genes Mutation Related With Gastrointestinal Stromal Tumors

Summary: Mutations of tumor-related genes are dynamic. Gastrointestinal stromal tumor cells often are obviously more invasive in case of recurrence. The great majority of relapses may be associated with secondary mutation in the GIST related genes. Full gene sequences of c-KIT、PDGFRA and DOG1, which is extracted from the specimen cells of repeated surgical resection or biopsy tissue in GIST patients with postoperative recurrence, are analyzed with the screening-sequencing approach, in order to investigate the characteristics and variations associated with the different gene mutations of c-KIT、PDGFRA and DOG1 in GIST patients and be likely to find out the evolutionary pattern, try to learn the facts about the effect of tyrosine kinase inhibitors on the GIST related genes, make a survey of any association of c-KIT、PDGFRA and DOG1 gene mutations and provide the basis for seeking molecular marker of GIST for monitoring course of disease, and offer a theoretical basis and new therapeutic strategies for application of clinical treatment.


Eligibility: Inclusion Criteria:
  -  patients with Gist at the Department of Gastrointestinal and Glands Surgery of the First Affiliated Hospital of Guangxi Medical University in China.
  Exclusion Criteria:
  -  patients with hepatitis and tuberculosis

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

Clinical trial: cKIT, BRAF/NRAS Mutations in Advanced Melanoma : Clinical Outcome in Response to Tyrosine-kinase Inhibitors - KitMel Project

Summary: Background: Metastatic melanoma has a devastating prognosis and is one of the top causes of cancer death in young patients. Until now, available therapies were few and unreliable, but recent understanding of melanomas' molecular pathways has improve their classification and new clinical strategies have been proposed.
  Initial studies showed that B-Raf/N-Ras mutations (respectively V600E and Q61) are the most frequent alteration being present in 70 to 80% of melanomas, characterizing non Chronic Sun-induced Damage skins (CSD). These include Superficial Spreading Melanomas (SSM) and Nodular Melanomas (NM). Other studies showed that c-Kit mutations are presently the predominant activating mutation (20 - 40 %) in Acro-Lentiginous Melanomas (ALM), Mucous Melanomas (MM) and in melanomas arising on CSD skin. c-Kit mutation pattern is more complex with four exons being affected leading to different mutations, which incidence and biological impact are less documented.
  BRAF/NRAS genetics alterations drive constantly cell growth, being thus attractive targets. Spectacular results have indeed been obtained with the BRAF inhibitor that targets the V600E BRAF-mutated form. Data from GIST disease revealed that the different c-Kit mutations modulate differently c-Kit function and the response to targeted therapies.
  Because c-Kit targeted therapy is a critical clinical issue, the investigators aimed to identify the most frequent mutations present in our population to propose appropriate screening test and adapt the therapy.
  Methods: 250 melanoma samples corresponding to an homogeneous white-Caucasian population (Brittany, France) will be screened. c-Kit exons 11, 13, 17 and 18 will be sequenced (direct sequencing and pyrosequencing when possible). c-Kit copy number will be quantified by q-PCR and level of c-Kit determined by immunohistochemistry (IHC, CD117). Samples will also be analyzed for B-Raf mutations in codon 464, 466, 469 and 600, and for N-Ras mutations in codon 12, 13 and 61 (Pyrosequencing).
  Expected Results:
  Taken together, the investigators anticipate that the present genetic analysis of the tumours from patients with advanced melanoma will first document the type and frequency of cKit mutations, will confirm or not that BRAF, NRAS and cKit mutations are mutually exclusive and document their repartition in the melanomas sub-types. Finally this study will clue researchers in to how well patients will respond to a therapy that targets the growth-promoting proteins BRAF/NRAS and cKIT.


Eligibility: Inclusion Criteria:
  -  melanoma
  -  white caucasian population

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

Clinical trial: Sensitivity/Specificity Study of Non-invasive Imaging for Melanoma Diagnosis

Summary: The purpose of this study is to show how well a new device, confocal microscope, works to detect malignant melanoma, a type of skin cancer.


Eligibility: Inclusion Criteria:
  -  Age 12 or older
  -  Patient who has already been selected by their dermatologist for biopsy of a suspicious pigmented lesion and who consents to participate in the study
  -  Signed informed consent
  Exclusion Criteria:
  -  Age < 12 years

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

Clinical trial: Cervical Cancer Screening Project Part C

Summary: This proposal has been developed through collaboration between the University of Minnesota and New American Community Services (NACS), and the research design is based on a needs assessment conducted by the community partner. The investigators will test the hypotheses that women who are offered home vaginal bio-specimen collection will have higher rate of cervical cancer screening completion than that of women referred for clinic-based Pap test. All participants will be given identical education materials on cervical cancer screening and HPV, currently in use by the Minnesota Sage Program.

Detailed description: The trial will pilot text a protocol for home vaginal bio-specimen collection for human papillomavirus (HPV) testing for cervical cancer screening. The main objective is to estimate the successful screening completion rate among a sample of Somali women who have not undergone cervical cancer screening for three or more years. Women will be randomized to either home vaginal bio-specimen collection or referral to undergo a clinic-based Pap test.

Eligibility: Inclusion Criteria:
  -  Somali female age 25-70 years
  -  have lived in the U.S. 10 years or less
  -  have not had a Pap test (by self report) in the last 3 years
  Exclusion Criteria:
  -  Women with a self reported past history of any of the following will not be eligible:
  -  total hysterectomy
  -  cervical cancer
  -  active history of cervical dysplasia

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

Clinical trial: Self-sampling and Human Papillomavirus (HPV)-Testing for Unscreened Women in Cervical Cancer Prevention

Summary: Scientific Context:
  High-risk types of human papillomavirus (HPV) are the causative agents for cervical cancer. Cervical cancer screening strategies rely on periodic Papanicolaou (Pap) testing. It's well-known that this test has significantly contributed to the reduction of mortality and morbidity due to cervical cancer. In France, it now seems that the screening strategy could be optimized. The two main ways are to reach the 7 million underscreened women (organized screening, self-sampling for HPV DNA testing) and to improve the screening test (HPV DNA testing, computer-assisted cytology). Self-collected vaginal samples (SCVS) for HPV DNA testing could be a relevant screening option: this technique appears reliable and it could allow to reach women who are never or seldom screened. The performance of the SCVS to detect cervical HPV infection has been assessed by the first part of the whole study: APACHE-1.
  The goal of this study is to compare the attitudes of women not attending organized cervical cancer screening face to different strategies: further invitation to make a cervical smear or kit for self-collected vaginal sample sent at home.
  Description of the project :
  Nine months after a primary invitation to make a cervical smear, a random sample of 6000 women not attending organized cervical cancer screening will be randomly assigned to one of the following arms:
  -  Intervention arm 1:
  Women will receive a further invitation to make a cervical smear
  -  Intervention arm 2:
  Women will be directly sent the kit for self-collected vaginal sample at home. The women who will send the self-sample to the laboratory for analyse will receive their results at home as well as their general practitioner if the HPV DNA test is positive (infection by a high-risk HPV).
  For them who will have a HPV DNA test positive, it will be necessary to complete the screening action with a cervical smear. That's why those women will receive an invitation to make a cervical smear if they won't do it during the 9 months following the first mail.
  -  Control arm: Those women will receive complete information about the study, the main results and the screening recommendations at the end of the study.


Eligibility: Inclusion Criteria :
  -  Women from 30 to 65 years
  -  Living in Indre-et-Loire (french territorial division 37)
  Exclusion Criteria :
  -  Women who attend organized cervical cancer screening or who answer to the invitation
  -  Cervical smear made in the three last years
  -  HPV linked cervical condition undergoing treatment
  -  Hysterectomy (including cervix)

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

Clinical trial: Anesthesia and Cancer Recurrence im Malignant Melanoma

Summary: Studies in animals and retrospective studies in humans show that regional anesthesia reduces metastatic cancer dissemination.
  The investigators hypothesize that in patients suffering from malignant melanoma who have to undergo radical inguinal lymph node dissection immune function will be less compromised and long term survival will be superior when spinal anesthesia is compared to general anesthesia.

Detailed description: Results of basic science indicate that regional anesthesia prevents perioperative immunosuppression and reduces postoperative metastatic cancer dissemination. If this would occur in humans, optimised anesthetic management might improve long-term outcome after cancer surgery.

Eligibility: Inclusion Criteria:
  -  Patients scheduled for inguinal lymph node dissection because of malignant melanoma of the lower limb
  -  Signed informed consent
  Exclusion Criteria:
  -  Age < 18 years
  -  Female patients who are pregnant or nursing
  -  Multiple organ failure
  -  Contraindications

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

Clinical trial: COPARIME: Pilot Study of a Target Detection of Malignant Melanoma

Summary: Melanoma is nowadays an important public health problem because its growing incidence. Mass screening for melanoma is not recommended worldwide because of its low cost-effectiveness. Nevertheless targeted screening for patients at high risk for melanoma is promoted. This study is designed to assess the effectiveness and the acceptability of a melanoma targeted screening of melanoma, to estimate the risk function to develop a melanoma among patients at high risk according to the SAMScore and to estimate the ratio cost/ efficacy of the melanoma targeted screening. A cohort of 7700 patients is carried out in 2 departments covered by a registry of cancers. The recruitment had began in April 2011. Patients assessed at high risk according to the SAMScore were proposed a skin examination by their GP every year.


Eligibility: Inclusion Criteria:
  -  patients more than 18 years old,
  -  consulting their GP,
  -  assessed at risk for melanoma according to the SAMScore
  -  signed the consent.

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

Clinical trial: Study of Nivolumab (BMS-936558) Compared With Dacarbazine in Untreated, Unresectable, or Metastatic Melanoma

Summary: The purpose of this study is to compare the clinical benefit, as measured by overall survival, of nivolumab with that of. dacarbazine in patients with previously untreated, unresectable, or metastatic melanoma


Eligibility: For more information regarding BMS clinical trial participation, please visit www.BMSStudyConnect.com
  Inclusion Criteria:
  -  Men and women ≥18 years of age
  -  Eastern Cooperative Oncology Group Performance Status of 0 or 1
  -  Untreated and histologically confirmed unresectable Stage III or Stage IV melanoma, as per the staging system of the American Joint Committee on Cancer
  -  Measurable disease as per Response Evaluation Criteria in Solid Tumors 1.1
  -  Tumor tissue from an unresectable or metastatic site of disease must be provided for biomarker analyses
  -  Known BRAF wild-type, as per regionally acceptable V600 mutational status testing. BRAF mutant patients and those with indeterminate or unknown BRAF status are not permitted to randomize
  Exclusion Criteria:
  -  Active brain metastases or leptomeningeal metastases
  -  Ocular melanoma
  -  Any active, known, or suspected autoimmune disease

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

Clinical trial: Clinical and Histopathologic Characteristics of BAP1 Mutations

Summary: The goal of this protocol is to determine the prevalence of somatic and germline mutations in BAP1 (BRCA associated protein-1) among patients with mesothelioma , choroidal nevus, primary uveal melanoma (UM), or metastatic UM seen at our institution.


Eligibility: Inclusion Criteria:
  All consents:
  -  > or = to 18 years of age
  -  Ability to provide informed consent
  Consent 1:
  Mesothelioma
  -  Histologically proven diagnosis of Mesothelioma OR Choroidal nevus
  -  Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography OR Primary uveal melanoma
  -  Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography
  Consent 2:
  Mesothelioma
  -  Histologically proven diagnosis of Mesothelioma AND
  -  BAP1 mutation or loss of expression identified in tumor sample
  OR one of the following:
  -  Age<50 at diagnosis
  -  No history of asbestos exposure
  -  Personal history of choroidal nevus, uveal melanoma, melanoma, renal cell carcinoma, or cholangiocarcinoma
  -  Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
  -  History of malignancy in more than two first-degree relatives OR Choroidal nevus
  -  Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography AND one of the following:
  -  More than one clinical risk factor, which may include: orange pigment, thickness > 1 < 2.5mm
  -  Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
  -  Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma OR Primary uveal melanoma
  -  Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography
  AND one of the following:
  -  Personal history of uveal melanoma, skin melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
  -  Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
  -  History of malignancy in more than two first-degree relatives OR Metastatic uveal melanoma
  -  Histologically proven diagnosis of metastatic uveal melanoma AND
  -  BAP1 mutation or loss of expression identified in tumor sample
  OR one of the following:
  -  Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
  -  Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
  -  History of malignancy in more than two first-degree relatives
  Consent 3:
  -  Relative of patient with germline BAP1 mutation identified through identified testing
  Exclusion Criteria:

Relevance to patient case: not relevant