araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Genetic Analysis of Familial Melanoma

Summary: In collaboration with members of The International Melanoma Consortium, we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 (CDKN2 or p16) gene, or the cyclin-dependant kinase 4 (CDK4). CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes, mutant forms of which are known to cause increased susceptibility to melanoma. The purpose of the present study then is to confirm the existence of and to identify additional gene(s) involved in heritable melanoma (cutaneous and ocular) and their precursor lesions (atypical nevi) by linkage analysis and gene mapping strategies. It is clear that the risk to develop atypical nevi and/or melanoma is strongly influenced by genetic and environmental factors (e.g. sun exposure). Characterization of such genes could provide important insights into the inheritance, pathogenesis, and treatment of this increasingly important disease.

Detailed description: In collaboration with members of The International Melanoma Genetics Consortium, we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 (CDKN2A), or the cyclin-dependant kinase 4 (CDK4) genes. CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes, mutant forms of which are known to cause increased susceptibility to melanoma. The purpose of the present study then is to confirm the existence of and to identify additional gene(s) involved in heritable melanoma (cutaneous and ocular) and their precursor lesions (atypical nevi) by linkage analysis and gene mapping strategies. It is clear that the risk to develop atypical nevi and/or melanoma is strongly influenced by genetic and environmental factors (e.g. sun exposure). Characterization of such genes could provide important insights into the inheritance, pathogenesis, and treatment of this increasingly important disease.

Eligibility: -  INCLUSION CRITERIA:
  Inclusion into this study was restricted to families containing at least three CMM cases with DNA available for genotyping, and CDKN2A and CDK4 involvement and had been excluded.
  All families must be mutation negative for both CDKN2A and CDK4.
  This study will also include families with at least one case of ocular and two cases of other cutaneous melanomas, or at least 2 ocular melanomas (except where they occur in parent and child).
  EXCLUSION CRITERIA:
  Any family showing evidence of haplotype sharing in the 9p21-p22 region, where CDKN2A is located, was also excluded.

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: A Study of ARQ 501 in Patients With Squamous Cell Carcinoma of the Head and Neck

Summary: This is a Phase 2, multi-center, open label study of ARQ 501 in patients with locally advanced, recurrent or metastatic squamous cell cancer of the head and neck (SCCHN).


Eligibility: Inclusion Criteria:
  1. Able to provide signed and dated informed consent document prior to study-specific screening procedures.
  2. Histologically or cytologically confirmed locally advanced, recurrent or metastatic SCCHN.
  3. Measurable disease per RECIST.
  4. ≥ 18 years old.
  5. Karnofsky performance status (KPS) ≥ 70%.
  6. Male or female patients of child-producing potential must agree to use contraception or avoidance of pregnancy measures during the study and for 30 days after the last infusion of ARQ 501.
  7. Hemoglobin (Hgb) ≥ 10 g/dL.
  8. Absolute neutrophil count (ANC) ≥ 1.5 x 10^9/L (≥ 1,500/mm³).
  9. Platelet count ≥ 100 x 10^9/L ( ≥ 100,000/mm³).
  10. Total bilirubin less than or equal to 1.5 x upper limit of normal (ULN) or less than or equal to 3.0 x ULN with metastatic liver disease.
  11. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) less than or equal to 2.5 x ULN or less than or equal to 5.0 x ULN with metastatic liver disease.
  12. Creatinine less than or equal to 1.5 x ULN.
  Exclusion Criteria:
  1. Primary tumor of nasopharyngeal origin.
  2. Eligible for curative surgery or radiotherapy.
  3. Received three or more systemic anticancer regimens.
  4. Have active, uncontrolled systemic infection considered opportunistic, life threatening or clinically significant at the time of treatment.
  5. Have received anticancer chemotherapy, immunotherapy, radiotherapy, or investigational agents within three weeks of first infusion.
  6. Surgery within two weeks of first infusion.
  7. Have symptomatic or untreated central nervous system (CNS) involvement.
  8. Are pregnant or lactating.
  9. Previous exposure to ARQ 501.

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Study of Induction Docetaxel, Cisplatin and 5-Fluorouracil

Summary: This is a Phase II study designed to test the efficacy of chemotherapy with docetaxel, cisplatinum (cisplatin) and 5-fluorouracil in patients with squamous cell carcinoma of the oral cavity to determine what effects these agents may have on cancer cells.

Detailed description: This is a Phase II study designed to test the efficacy of chemotherapy with docetaxel, cisplatinum, and 5-fluorouracil in patients with squamous cell carcinoma of the oral cavity to determine what effects these agents may have on cancer cells.
  Approximately 60 patients will take part at multi-sites with potentially 20 patients participating at the Emory Winship Cancer Institute in Atlanta, Georgia.

Eligibility: Inclusion Criteria:
  -  Histologically or cytologically proven squamous cell carcinoma of the oral cavity.
  -  Primary tumor sites eligible: oral cavity. Although they are admittedly of squamous cell types, the following tumors will be excluded because their responsiveness to chemotherapy may differ: tumors of the nasal and paranasal cavities and of the nasopharynx. Oral cavity tumors with mandible invasion are excluded because the tumor biology and management of these tumors is more complex and will likely include upfront surgical resection.
  -  Stage 3 or 4 disease without evidence of distant metastases verified by chest x-ray, abdominal ultrasound, or CT scan (liver function test abnormalities); bone scan in case of local symptoms.
  -  At least one uni- or bi-dimensionally measurable lesion.
  -  Age ≥ 18 years.
  -  WHO (World Health Organization)performance status of 2 or less.
  -  No active alcohol addiction.
  -  Final eligibility for a clinical trial is determined by the health professionals conducting the trial.
  Exclusion Criteria:
  -  Pregnant or breast feeding
  -  Previous malignancies at other sites, with the exception of adequately treated in situ carcinoma of the cervix uteri, basal, or squamous cell carcinoma of the skin or other cancer curatively treated by surgery and with no evidence of disease for at least 5 years.
  -  Any prior treatment with radiotherapy or chemotherapy is an exclusion criterion.
  -  Patients who experience an involuntary weight loss of more than 25% of their body weight in the 2 months preceding study entry.
  -  Concurrent treatment with any other anti-cancer therapy.
  -  Participation in an investigational trial within 30 days of study entry.
  -  Patients with a history of severe hypersensitivity reaction to Taxotere® or other drugs formulated with polysorbate 80.
  -  No previous chemotherapy or radiotherapy for any reason and no previous surgery for SCCHN [squamous cell carcinoma of the head and neck] (other than biopsy) are allowed at the time of study entry.
  -  Final eligibility for a clinical trial is determined by the health professionals conducting the trial.

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Taxotere (Docetaxel) in 1st Line Treatment of Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma

Summary: The purpose of the study is to compare time to progression and overall survival after treatment with Taxotere plus cisplatin versus cisplatin plus 5-FU (PF treatment group) in the first line treatment of patients with recurrent and/or metastatic squamous cell carcinoma of the head and neck.


Eligibility: Inclusion Criteria:
  Patients with histologically or cytologically documented squamous cell carcinoma of the head and neck (SCCHN) (eligible primary sites: oral cavity, oropharynx, hypopharyx, or larynx) presenting with locally recurrent and/or metastatic disease, with at least 1 unidimensionally or bidimensionally measurable lesion.

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Side Effects of High-Dose Intensity-Modulated Radiation Therapy in Treating Patients With Advanced Head and Neck Cancer

Summary: RATIONALE: Tests that measure how much saliva is made, hearing, swallowing, voice function, and quality of life may improve the ability to plan treatment for patients with advanced head and neck cancer and may help doctors find better ways to treat the cancer.
  PURPOSE: This clinical trial is studying the side effects of high-dose intensity-modulated radiation therapy in treating patients with advanced head and neck cancer.

Detailed description: OBJECTIVES:
  Primary
  -  Assess salivary function in patients with advanced head and neck cancer treated with intensity-modulated radiotherapy (IMRT) by measuring stimulated saliva production at 6 and 12 months after completion of therapy.
  -  Compare salivary function in these patients to salivary function in historical controls.
  Secondary
  -  Assess auditory, swallow, and voice function and quality of life of these patients before and after IMRT or chemoradiotherapy.
  -  Advance experience with IMRT/tomotherapy and improve field design for irradiating head and neck cancer in an effort to reduce radiation dose and minimize effects on surrounding normal tissue.
  OUTLINE: This is a prospective study.
  Patients undergo standard of care high-dose intensity-modulated radiotherapy (IMRT) to the head and neck.
  Patients undergo baseline and post-treatment testing of auditory, salivary, swallow, and voice function as well as quality of life evaluation.
  Patients are evaluated for radiation-induced toxicities at 1, 6, and 12 months after completion of IMRT.
  PROJECTED ACCRUAL: A total of 20 patients will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Histologically confirmed advanced head and neck cancer
  -  Indication for radiotherapy or chemoradiotherapy as primary or postoperative therapy AND meets 1 of the following criteria:
  -  More than 75% of bilateral parotid glands expected to receive ≥ 45 cGy of radiation using conventional treatment field design
  -  Either or both central auditory apparatus predicted to receive > 45 cGy of radiation
  PATIENT CHARACTERISTICS:
  -  No comorbid medical condition that would preclude radiotherapy
  -  No serious concurrent psychosocial, familial, sociological, geographical, or other condition that would preclude study compliance
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

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: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Erlotinib (Tarceva) During First Line Standard Platinum Containing Chemo for Advanced Squamous Cell Head and Neck Cancer

Summary: The purpose of this study is to determine if combination Erlotinib, Cisplatin/Carboplatin, and Paclitaxel are effective first line treatment for metastatic, recurrent and persistent squamous cell carcinoma of the head and neck.

Detailed description: We hypothesize that Erlotinib fails to enhance the effects of chemotherapy on response and survival because of Erlotinib's cytostatic effect, this results in a slowing down of the cell cycle, this in turn results in a hampering of the cytotoxic effect of chemotherapy leading to a lack of synergism with the combination. We propose that a sequential approach to the combination allows each drug to be used in its optimum time, by sequencing the Erlotinib, giving it 24 hours after chemotherapy we allow the chemotherapy to exert its effect with cells actively in cell cycle, but delivering the Erlotinib at a time when cells are trying to return to cell cycle hence slowing the growth rate of the tumor cell population. By withdrawing the Erlotinib about 4 days prior to the next chemotherapy cycle, we allow the cells to go back into cell cycle and therefore become susceptible to chemotherapy again.
  Patients will be treated with intravenous paclitaxel over 3 hours followed by intravenous cisplatin/carboplatin on Day 1 of each 21 day cycle. Patients will be treated with Erlotinib at a loading dose of 300mg on Day 2 followed by 150 mg orally daily from Days 3-17 of each cycle of paclitaxel and cisplatin/carboplatin.
  The primary objectives of this study are to assess the response rate of combination of erlotinib, cisplatin/carboplatin and paclitaxel in the first line treatment setting of metastatic, recurrent and persistent squamous cell carcinoma of the head and neck. Secondary objectives are to assess toxicity, median survival, and progression free survival.

Eligibility: Inclusion Criteria:
  -  Squamous cell carcinoma of the head and neck region that is metastatic, recurrent or persistent after surgery and/or radiation
  -  No prior chemotherapy for metastatic, recurrent or persistent disease
  Exclusion Criteria:
  -  Not more than 1 prior adjuvant or neoadjuvant chemotherapy regimen is allowed
  -  Chemotherapy or radiotherapy within 4 weeks prior to entering the study or those who have not recovered from adverse events due to agents administered more than 4 weeks earlier

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Open Label, Phase I ZD6474 Head and Neck Cancer Study

Summary: The purpose of this study is to determine the maximum tolerated dose of ZD6474 given in combination with radiation or in combination with chemotherapy and radiation in patients with squamous cell carcinoma of the head and neck.


Eligibility: Inclusion Criteria:
  -  Stage III-IV squamous cell carcinoma of the head and neck
  Exclusion Criteria:
  -  No previous treatment for head and neck cancer, adequate cardiac function

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Photodynamic Therapy With Porfimer Sodium in Treating Patients With Precancerous Lesions, Cancer, or Other Disease of the Aerodigestive Tract

Summary: RATIONALE: Photodynamic therapy uses a drug that becomes active when it is exposed to a certain kind of light. When the drug is active, precancerous cells and cancer cells are killed.
  PURPOSE: This phase II trial is studying the side effects and how well photodynamic therapy with porfimer sodium works in treating patients with precancerous lesions, cancer, or other disease of the aerodigestive tract.

Detailed description: OBJECTIVES:
  -  Determine the efficacy of photodynamic therapy with porfimer sodium in patients with pre-malignant lesions, carcinoma in situ, select superficial squamous cell carcinoma of the oral cavity, oropharynx, or larynx, or condemned mucosa syndrome in the upper aerodigestive tract.
  -  Determine the safety of this regimen in these patients.
  OUTLINE: Patients are stratified according to disease condition (benign vs malignant).
  Patients receive porfimer sodium IV over 3-5 minutes on day 1 and laser light activation on day 3 or 4.
  After completion of study treatment, patients are followed at 3 and 4 months and then periodically for up to 2 years.
  PROJECTED ACCRUAL: A total of 47 patients will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of 1 of the following:
  -  Any of the following benign lesions:
  -  Localized severe dysplasia, leukoplakia, erythroplakia, or other superficial lesions considered to be pre-malignant
  -  Carcinoma in situ
  -  Superficial (< 1 cm depth of invasion) squamous cell carcinoma (SCC) of the oral cavity, oropharynx, or larynx
  -  T1-T3 disease
  -  Meets one of the following criteria:
  -  Failed radiation therapy and refused standard salvage surgery
  -  Refused radiation therapy and/or surgery as primary therapy
  -  No good surgical alternative with acceptable morbidity
  -  Condemned mucosa syndrome
  -  At least one upper aerodigestive tract pre-malignant lesion, carcinoma in situ, or squamous cell carcinoma previously treated with surgery and/or radiation therapy with the development of another lesion not at the site of the previously treated areas
  PATIENT CHARACTERISTICS:
  -  Creatinine ≤ 2 mg/dL
  -  AST and ALT ≤ 30% elevated
  -  Alkaline phosphatase ≤ 30% elevated
  -  Bilirubin ≤ 1.0 mg/dL
  -  No contraindication to anesthesia or analgesia
  -  No porphyria
  -  No hypersensitivity to porphyrins
  -  Not pregnant or nursing
  -  Negative pregnancy test
  -  Fertile patients must use effective contraception
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: Germline Mutations in Patients With Head and Neck Cancer and a Family History of Cancer

Summary: RATIONALE: Studying gene mutations in samples of DNA from patients with head and neck cancer and a family history of cancer may help doctors learn more about the development of cancer in families.
  PURPOSE: This clinical trial is studying germline mutations in patients with head and neck cancer and a family history of cancer.

Detailed description: OBJECTIVES:
  -  Measure the incidence of p16^INK4a germline mutations in patients with squamous cell carcinoma of the head and neck and a family history of cancer.
  -  Determine biologic activity of identified p16^INK4a germline mutations.
  OUTLINE: DNA specimens are collected for genetic and mutation analysis and examined by PCR and flow cytometry. The activity of cells with p16 mutations is determined by cell cycle arrest functional assay.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of squamous cell carcinoma (SCC) of the head and neck
  -  Must have ≥ 1 first-degree relative with any of the following cancers:
  -  Non-small cell lung cancer
  -  Melanoma
  -  Pancreatic cancer
  -  SCC of the head and neck
  -  Lymphoma (controls)
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  Not specified

Relevance to patient case: not relevant
Patient case: 64-year-old male with head and neck squamous cell carcinoma; genetic feature: CDKN2A

Clinical trial: A Retrospective Analysis of Neck Dissection Following Complete Response to Chemoradiation in HNSCC

Summary: RATIONALE: Gathering disease-related information from medical charts of patients with primary head and neck cancer who have undergone neck dissection after complete response to chemotherapy and radiation therapy may help doctors learn more about the disease and find better methods of treatment.
  PURPOSE: This clinical trial is evaluating the medical charts of patients with primary head and neck cancer who have undergone neck dissection after complete response to chemotherapy and radiation therapy.

Detailed description: OBJECTIVES:
  -  Perform a retrospective analysis, by medical chart review, of patients with primary squamous cell carcinoma of the head and neck who underwent neck dissection following complete response to chemoradiotherapy.
  -  Determine whether the role of a post-chemoradiotherapy neck dissection affects the outcome of the patient's disease, in terms of overall survival, disease-free survival, and recurrence rates.
  OUTLINE: This is a pilot, retrospective study.
  Patients who have undergone neck dissection after achieving a complete clinical and radiological response to chemoradiotherapy are compared to patients who did not. Data are gathered by medical chart review.

Eligibility: Inclusion Criteria:
  -  Diagnosis of primary squamous cell carcinoma of the head and neck at any of the following sites:
  -  Oral cavity
  -  Oropharynx
  -  Hypopharynx
  -  Larynx
  -  Complete response achieved after treatment with chemoradiotherapy
  Exclusion Criteria:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant