araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 34-year-old female with melanoma; genetic feature: NRAS (Q61L)

Clinical trial: Risk Stratification Among Individuals Who Have Many Moles on Their Skin

Summary: The investigators are doing this study to improve our ability to identify which people with many moles on their skin are most likely to develop skin melanoma. The investigators hope to identify features of moles that are associated with melanoma risk. The investigators hope to use this information to customize and tailor melanoma screening to the individual patient based on a better estimate of their individual risk.


Eligibility: Inclusion Criteria:
  -  Patients ≥ 18 years of age
  -  High-risk nevus phenotype (≥ 50 nevi and ≥ 1 atypical nevus)
  -  First presented to MSKCC for cutaneous melanoma-related care within the past 12 months
  -  Cases: recent diagnosis (≤ 12 months) of unequivocal invasive cutaneous melanomas (AJCC Stages I-IV) confirmed by MSKCC pathology
  -  Cases: completion of surgical treatment of primary melanoma
  -  Ability to sign informed consent
  Exclusion Criteria:
  -  Known germline high-penetrance melanoma predisposition mutation (that is, CDKN2A and CDK4)
  -  Cases: history of invasive cutaneous melanoma (AJCC Stages I-IV) not confirmed by MSKCC pathology, history of acrolentiginous type of cutaneous melanoma
  -  Cases: history of systemic adjuvant therapy or treatment of metastatic melanoma, including: MEK inhibitors (trametinib, cobimetinib, etc.), BRAF inhibitors (vemurafenib, dabrafenib, etc.), and immunotherapy (pembrolizumab, nivolumab, atezolizumab, ipilimumab, etc.). Controls: history of Stage 0-IV melanoma confirmed by MSKCC pathology
  -  History of limb amputation or other condition (e.g., tattoos, burns) per investigator discretion that would modify nevus phenotype
  -  Physical inability to undergo total body photography or reflectance confocal microscopy imaging (that is, remain relatively still for durations of 3-5 minutes)
  -  Known hypersensitivity to adhesive rings used for reflectance confocal microscopy
  -  Inability to give informed consent
  -  Have skin afflicted with anther skin condition (for example, psoriasis) that would affect ability to characterize nevus phenotype (per investigator discretion)
  -  Familial cutaneous melanoma history (families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma or pancreatic cancer among first- or second-degree relatives on the same side of the family). We will confirm melanoma family history via medical record documentation, whenever possible, as recommended by previous studies that disproved about half of the reported family histories of melanoma among first-degree relatives in case-control studies.

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

Clinical trial: Assessment of Digital Imaging as a Tool for Diagnosing Psoriasis, Hand Rashes and Unusual Moles

Summary: This study will evaluate whether digital photography is a reliable tool for diagnosing hand rashes, psoriasis and unusual moles. The findings will help determine if this method can be used in the National Health and Nutrition Examination survey (NHANES), which monitors disease in the United States.
  Employees of the National Institutes of Health 19 years and older may enroll in this study. Participants will complete a brief questionnaire that includes information on skin type, history of skin conditions (moles, cancer, rashes, psoriasis), and demographic information such as name, age and sex. They will be examined by a dermatologist, who will note in writing the appearance of any hand rashes, unusual moles, or psoriasis. If any areas suspicious for skin cancer are found, the participant will receive this information in writing, along with advice about where to go for treatment.
  A total of six photographs will then be taken of the participant's arms, legs, hands and back. The face will not be photographed, and the participants will not be identifiable.

Detailed description: This validation study is designed to evaluate the sensitivity, specificity, validity and reliability of digital photography of the skin as a prevalence assessment tool in preparation for the National Health and Nutrition Examination Survey, 2001 (NHANES IV). NHANES is charged with monitoring disease in the U.S. population, which is affected frequently by skin disorders and disease. The three skin disorders proposed for study in NHANES IV are atypical nevi, psoriasis, and hand dermatitis. This selection is based on the expected impact of these diseases on the U.S. population, including a prevalence of 3-10%, associated risk of melanoma in the case of atypical nevi, and associated disability in the cases of psoriasis and hand dermatitis.
  This skin disease section of NHANES, as currently planned for 2001, includes an imaging component with four standardized photographs to be obtained from each survey participant (SP). The selection of the regions to be photographed is designed to maximize the information obtained, while preserving patient privacy and is based on the known distribution of clinical findings of the three conditions, as well as NHANES logistical limitations. This validation study is a cooperative effort between the NIAMS extramural programs, the NCI intramural program, and the National Center for Health Statistics.

Eligibility: Must have employee status at the National Institutes of Health.
  Age greater than 18 years.
  Able to understand and sign consent.
  Patients who are wheelchair bound and are unable to have images of their back and lower extremities taken safely will be excluded from photography since this portion of the examination requires an ability to stand. However, they will still be eligible to participate in the skin cancer screening.

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

Clinical trial: Diagnostic Study to Predict the Risk of Developing Metastatic Cancer in Patients With Stage I or Stage II Melanoma

Summary: RATIONALE: Diagnostic procedures that analyze surgically-removed tumor tissue and lymph node samples may help doctors identify patients with melanoma who are at risk for developing metastatic cancer.
  PURPOSE: This clinical trial is studying tumor tissue and lymph node samples to see how well they work in predicting the development of metastatic cancer in patients with stage I or stage II melanoma.

Detailed description: OBJECTIVES:
  -  Correlate degree of melastatin gene expression with risk of developing local regional metastases in patients with primary stage I or II melanoma.
  -  Correlate melastatin expression prospectively with event-free survival of these patients.
  OUTLINE: This is a multicenter study.
  Melastatin mRNA expression is determined by in situ hybridization using tissue from primary tumor and lymph nodes. Tissue is also examined by immunohistochemical staining using antibodies to S-100 and MART-1. Patients do not receive the results of these tests nor do the results influence individual therapy.
  Patients are followed every 4 months for 3.5 years.
  PROJECTED ACCRUAL: A total of 300 patients will be accrued for this study within 3.5 years.

Eligibility: 1. Histologically documented primary AJCC stage I or II melanoma. Evidence of ulceration, vertical growth phase, regression, lymphocytic infiltration, vascular invasion, microscopic satellitosis, and mitotic rate shall be noted.
  2. Patients planning to undergo a sentinel lymph node biopsy, or an elective lymph node dissection of an anatomic draining region from the index primary melanoma.
  3. ≥18 years of age
  4. Patients must be registered prior to planned surgery. The surgery must be performed within 45 days following registration.
  5. No concurrent active malignancy other than carcinoma in situ of the cervix and basal cell carcinoma of the skin, or history of any other primary malignancy including previously primary melanoma.
  6. Tissue blocks: one of primary tumor tissue taken from region of greatest Breslow thickness. Note: If blocks cannot be sent due to institutional policy, slides may be substituted for the locks per the protocol.

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

Clinical trial: Vaccine Therapy for Patients With Stage III Melanoma

Summary: This is a Phase 3 study in patients with melanoma that has spread to the lymph nodes (stage III), and who have had all of their cancer surgically removed. The purpose of this study is to evaluate the ability of the CancerVax™ vaccine to prevent or slow the recurrence of melanoma.


Eligibility: -  Must have Stage III melanoma
  -  Must have had all clinically-detectable disease surgically removed
  -  Cannot be taking any medications, or undergoing any therapies which compromise the functioning of your immune system (ie. Some corticosteroids, and certain types of radiation therapy)
  -  Cannot have HIV or Hepatitis A, B, or C

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

Clinical trial: CPG 7909 Injection in Melanoma

Summary: To determine the safety, tolerability and effects of CPG 7909 (the study drug) when given with chemotherapy to patients with melanoma.


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically confirmed melanoma that is metastatic.
  -  Measurable disease according to the RECIST criteria.
  -  Karnofsky Performance Status of > 70.
  Exclusion Criteria:
  -  Prior treatment with anti-neoplastic biologic or chemotherapy for recurrent or metastatic disease (except one course of adjuvant immunotherapy and/or adjuvant chemotherapy other than DTIC).
  -  Suspected or known CNS metastases.

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

Clinical trial: Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases

Summary: Exploratory study to examine the effect(s) of Imatinib mesylate treatment on life threatening rare diseases with known associations to one or more Imatinib mesylate -sensitive tyrosine kinases, and to identify the contribution of specific protein tyrosine kinases (PTKs) of that specific disease.


Eligibility: Inclusion Criteria:
  -  Patients ≥ 15 years of age
  -  Life threatening disease documented by conventional criteria to be resistant to standard, approved therapy.
  -  Experimental documentation of functional significance of either Abl, Kit (CD117), or PDGF-R in the relevant target tissue (preferably on a sample taken within 6 weeks of study entry).
  -  ECOG Performance status of 0, 1, or 2.
  -  Adequate end organ function defined as: total bilirubin < 1.5 x ULN, SGOT and SGPT < 2.5 x UNL (or < 5 x ULN for patients with hepatic disease), creatinine < 1.5 x ULN, ANC > 1.5 x 109/L, platelets > 100 x 109/L.
  -  Negative serum or urine pregnancy test for women of child bearing potential (WOCBP) within 7 days of study initiation. Post menopausal women must have experienced amenorrhea for at least 12 months. Male and female patients must use effective birth control methods throughout the study and for up to 3 months after study discontinuation.
  -  Life expectancy of more than 3 months.
  -  Written, voluntary, informed consent for retrieval, evaluation and investigational use of tissue samples.
  Exclusion Criteria:
  -  Patients who have received any other investigational agent within 28 days of study initiation.
  -  Patients with another primary malignancy except if other primary malignancy is neither currently clinically significant nor requiring active intervention.
  -  Patients with Grade III/IV cardiac problems defined by the New York Heart Association Criteria (e.g. congestive heart failure, myocardial infarction within 6 months of study).
  -  Female patients who are pregnant or breast-feeding.
  -  Patients who have another severe and/or life threatening medical disease.
  -  Patients with acute or known chronic liver disease (e.g. chronic active hepatitis, cirrhosis).
  -  Patients with a known diagnosis of the human immunodeficiency virus ((HIV) infection.
  -  Patients who have received chemotherapy within 4 weeks (6 weeks allowed for nitrosourea, mitomycin-C or any antibody therapy) prior to study entry.
  -  Patients who have had major surgery within 2 weeks prior to study entry.
  -  Patients with any significant history of non-compliance to medical regimens or with inability to grant reliable informed consent.
  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: Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes

Summary: This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the effect on the malignancy.

Detailed description: Condition
  Diverse malignancies either associated with or thought to be associated with activated tyrosine kinase enzymes including hypereosinophilic syndrome systemic mastocytosis chronic myelomonocytic leukaemia, dermatofibrosarcoma protuberans and other diseases.
  Not included:
  Patients with chronic myeloid leukemia, some other types of leukemias (abl-mutated) some types of gastrointestinal stromal tumours (c-KIT-positive), some systemic mastocytosis (if c-KIT D816V mutation), brain, prostate, breast or lung cancers.

Eligibility: Inclusion Criteria:
  1. Malignancy likely related to an activated tyrosine kinase enzyme sensitive to imatinib mesylate.
  2. Spread of the disease to the rest of the body (confirmed by tissue sample) beyond the skin.
  3. Malignant tissue showing activation of certain tyrosine kinases (ABL, ARG, KIT (CD117), or PDGF-R alpha or beta) & preferably within 6 weeks of entry.
  Exclusion Criteria:
  1. Certain leukaemias (abl-mutated), some gastrointestinal stromal tumours (c-KIT-positive) or certain systemic mastocytosis (if c- KIT D816V mutation).
  2. A primary prostate, breast, lung or brain tumour,
  3. Patient has previously been treated with imatinib mesylate except where treatment was more than 6 months previously and there is no suggestion of clinical resistance nor lack of response.
  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: A Study of the Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit Gene

Summary: In the core study, participants with unresectable or metastatic gastrointestinal stromal tumors expressing c-kit were treated with either 400 mg or 600 mg imatinib mesylate for 3 years. The 10 year extension study allowed participants, who successfully completed the core study, to continue study treatment with imatinib mesylate provided they still benefited from treatment and did not demonstrate safety concerns as per the investigator's opinion.


Eligibility: Inclusion Criteria:
  -  Men and non-pregnant women ≥18 years of age with the histopathologically documented diagnosis of malignant GIST that was unresectable and/or metastatic. Confirmation of KIT (CD117) expression via immunohistochemical analysis of tumor sample was also required
  -  At least one measurable lesion, as defined by Southwestern Oncology Group (SWOG) Solid Tumor Response Criteria, which had not been previously embolized or irradiated
  -  Performance status ≤3 as defined by the Eastern Cooperative Oncology Group (ECOG) criteria, as well as a life expectancy ≥6 months and adequate end organ function defined as follows: Total bilirubin <1.5 times upper limit of normal (ULN), aspartate aminotransferase (SGOT) and alanine aminotransferase (SGPT) <2.5 x ULN (or <5 x ULN if hepatic metastases were present), creatinine <1.5 x ULN, absolute neutrophil count (ANC) >1.5 x 10^9/L, platelet count >100 x 10^9/L
  Exclusion Criteria:
  -  Patients with fewer than five years of disease-free survival from any other (non-GIST) malignancy except if the other malignancy was not currently clinically significant and did not require active intervention or if the other malignancy was a basal cell skin cancer or a cervical carcinoma in situ
  -  Patients with known brain metastases
  -  Evidence of any of the following disorders: Grade III/IV cardiac failure as defined by the New York Heart Association Criteria, severe concomitant disease, acute or known chronic liver disease (i.e. chronic active hepatitis, cirrhosis) or HIV infection
  -  Chemotherapy or other investigational therapy within four weeks prior to study entry (six weeks for nitrosourea or mitomycin-C) and/or radiotherapy to ≥25% of the bone marrow
  -  Inability to cooperate
  -  Major surgery within two weeks or exposure to other investigational agents within 28 days of entry into the study
  Other protocol-defined inclusion / exclusion criteria may have applied.

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

Clinical trial: Efficacy of Chemotherapy Combined With Regional Hypothermia in Advanced Malignant Melanoma Patients With Progressive Soft Tissue Metastases

Summary: The incidence of malignant melanoma continues to rise throughout the world. Approximately 12 in 100,000 Germans are diagnosed with malignant melanoma per year. Malignant melanoma is often very aggressive since it may spread both through the lymphatic system and the bloodstream at an early stage of disease.
  While treatment of localized disease is mostly surgical, in patients with extensive disease, prognosis remains poor; the primary standard therapy of metastastic disease comprises dacarbazine (DTIC) eventually combined with other chemotherapeutic agents e.g., cisplatin or BCNU. The duration of response to systemic chemotherapy is generally short and so far, no standard second-line treatment has been established.
  To study the potential additional therapeutic effects of regional hyperthermia in advanced malignant melanoma patients with progressive chemotherapy refractory soft tissue metastases, in the present trial, we sought to compine local hyperthermia with concomitant systemic second-line chemotherapy.


Eligibility: Inclusion Criteria:
  -  age between 18 and 70
  -  histologically proven malignant melanoma with advanced inoperable soft tissue metastases
  -  progressive disease upon systemic first-line chemotherapy
  -  2 or more bidimensionally measurable soft tisue lesions
  -  WHO performance status (ECOG) of 2 or more
  -  life expectancy of 8 weeks and more
  -  prior informed consent
  Exclusion Criteria:
  -  participation in other therapy studies
  -  pregnancy or breast feeding
  -  concomitant clinically significant infection
  -  cardiac pacemaker or other medical implants, or implants within the hyperthermia treated region (including a safe distance of 5 cm)
  -  lack of physiological heat sensitivity within the hyperthermia treated region (including a safe distance of 5 cm)

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

Clinical trial: Neural Changes in the Aging Auditory System

Summary: The purpose of this study was to determine the effects of hormone replacement therapy (HRT) on hearing in post-menopausal women.

Detailed description: Background: Female hormone influences on the development and aging of the auditory system are not completely understood. The present study retrospectively analyzed and compared hearing abilities among post-menopausal women taking hormone replacement therapy (HRT), treated with estrogen and progesterone (E+P); estrogen alone (E), and a third (control - NHRT) group, matched for age, who did not receive any HRT.
  Methods: 126 subjects, (60-86 yr), N=32, E+P; N=31, E; N= 63, NHRT; matched for age and health status participated. All had relatively healthy medical histories, absence of significant noise exposure, middle ear problems, major surgeries or current/heavy smoking. Hearing tests included pure tone audiometry (PTA), tympanometry, distortion-product otoacoustic emissions (DPOAEs), transient otoacoustic emissions (TEOAEs) and hearing-in-noise-test (HINT). The latter is a test for speech perception in background noise: the major complaint of hearing-impaired persons.

Eligibility: Inclusion Criteria:
  -  Healthy middle ears
  Exclusion Criteria:
  -  ototoxic medications
  -  serious medical health problems
  -  neurological conditions
  -  Meniere’s disease or labyrinthitis
  -  those who failed cognitive screening tests (Mini-Mental Test)
  -  current/heavy smokers
  -  conductive hearing loss
  -  history of noise damage and/or audiograms signifying noise damage
  -  poor speech discrimination scores (80% or less)

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

Clinical trial: The Final Diagnosis and Treatment Result of Metastatic Cervical Carcinoma of Unknown Primary

Summary: Investigate the final diagnosis and treatment result of metastatic cervical carcinoma of unknown primary

Detailed description: Carcinoma of unknown primary (CUP) is defined as biopsy-proven metastasis of an epithelial malignancy in the absence of an identifiable primary site after complete history and physical examination, basic laboratory studies, chest X-ray and additional directed studies indicated by positive findings during the initial work-up. It is characterized by its slow local development and its high metastatic potential.1,2 Patients with CUP represent 4–10% of all new cancer patients.3,4 The presenting sites of metastasis identified pathologically, radiographically or by physical examination were found most frequently in the lymph nodes (37.1%), followed by the liver, bone, lung, pleura/pleural space, brain, peritoneum, adrenal and skin. Of the lymph nodes of metastasis, the supraclavicular cervical area is the leading site (31.3%), followed by the mediastinum, axilla, retroperitonium, and inguina.5 The incidence of metastatic cervical CUP (MCCUP) varies between 2% and 9% of all head and neck cancers.6-8 The level of cervical metastatic involvement may give some clue as to the likely primary site. A submandibular mass (level I) would most commonly be related to a primary in the oral cavity or skin. Level II nodes, including the jugulodigastric node, may point to a primary in the oral cavity, oropharynx, or supraglottic larynx. Tumours of the nasopharynx generally spread to level II or the posterior triangle, as well as retropharyngeal nodes. Middle and lower jugular nodes (levels III and IV) are more likely related to a laryngeal or hypopharyngeal cancer. Metastatic disease restricted to the supraclavicular region is often due to an infraclavicular primary site.9 The prognosis is different according to the involved lymph node level and possible primary site. Modern cancer management relies heavily on recognition of the primary tumor; thus the absence of a primary site poses major diagnostic and therapeutic problems. The patient benefits from identification of the initial tumor site because postoperative irradiation ports may be reduced and because surveillance for recurrence may be improved.10 In order to identify the likely primary site of MCCUP and compare the prognoses of known and unknown primary groups, we report the results according to the different levels of metastatic cervical lymph nodes.

Eligibility: Inclusion Criteria:
  -  cases of metastatic cervical carcinoma of unknown primary
  Exclusion Criteria:

Relevance to patient case: not relevant