araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Non Invasive IDentification of Gliomas With IDH1 Mutation

Summary: The recurrent mutation IDH1Arg132His leads to the cellular accumulation of D-2-hydroxyglutarate (2-HG), thus representing a diagnostic marker (this change is almost specific for gliomas) and prognostic (mutated gliomas have longer survival) of interest.
  The main objective is to identify the patients with IDH1 mutated glioma by three complementary approaches -genetic (identification of IDH1 mutation in plasmatic DNA), biochemical (2-HG dosage in the urine of patients) and radiological (2-HG

Detailed description: Our preliminary results indicate an extremely high amount of D-2HG in gliomas and CSF of the patients, and therefore the possibility to detect its presence by spectro-MRI, and to establish a non-invasive diagnosis of glioma with IDH1 mutation. Our goal is to identify and quantify by high-field MRI spectroscopy the presence of D-2HG to identify gliomas with IDH1 mutation. In parallel, we developed a technique for selective amplification of the mutated form of IDH1 (COLD PCR): by combining this technique with digital PCR, we already are able to detect IDH1 mutation from free plasma DNA with a sensitivity of 58% and a specificity of 100%. At the same time we have shown that D-2HG levels in urine of patients correlate with the status of the tumor IDH1.
  The main objective is to identify using this triple approach (detection of the mutation on plasma DNA detection, detection of urinary D-2HG, detection of tumor D-2HG by spectro-MRI) patients with IDH1arg132His mutation, the secondary objective is to evaluate the value of these markers for patients follow-up and for differentiating recurrence from treatment induced damage. 40 patients with grade II and grade III gliomas (20 mutated, 20 non mutated) will be included and followed up for one year (five measurements are planned).
  The first interest is diagnostic: the presence of the IDH1Arg132His mutation allows the diagnosis of glioma. This information is particularly valuable in patients not amenable to biopsy, because of the location of the tumor considered at risk, the general condition of the patient or the co-morbidities and medications. We hope also with these parameters to better monitor patient's follow-up, and to have a new method to differentiate tumor recurrence and radionecrosis or post-radiation leukoencephalopathy.

Eligibility: Inclusion Criteria:
  Inclusion Criteria
  -  Affiliated to Health Insurance regimen (sécurité sociale)
  -  Patient of 18 years or more
  -  written informed consent
  -  Glioma grade II or III histologically proven
  -  Frozen samples available
  -  Known status IDH1/IDH2
  -  Presence of a measurable residual tumor (> 2 cm in diameter FLAIR)
  -  Karnofsky Performance Status (KPS)> 60
  Exclusion Criteria:
  -  Contraindication to MRI *
  -  The rare patients with IDH2 mutation or with non Arg132His IDH1 mutation will be excluded
  -  Inability to provide informed consent
  -  Patient under guardianship or deprived of liberty by court

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Endoscopic Biliary Radiofrequency Ablation of Malignant Distal Common Bile Duct Strictures

Summary: Malignant bile duct obstruction is a common sequela of pancreatic cancers or distal bile duct cancers, and its development can hinder the use of chemotherapy, decrease patient quality of life, and decrease survival. To relieve obstructive jaundice as a result of the obstruction, endoscopic stent placement is usually required. The use self-expandable metal stents (SEMSs) have been shown to result in a longer patency times as compared with plastic stents. However, despite improvements in materials and stent design, stent obstruction still occurs in 13% to 44% of the patients. Tumor in-growth is the most common mechanism of stent obstruction.
  Recently, the use of endoscopic biliary radiofrequency ablation (EBRFA) have been described in patients suffering from inoperable malignant distal common bile duct (CBD) obstruction. The procedure uses heat energy to cause local tumour tissue death, resulting in re-opening of the bile duct lumen. The procedure has the potential of reducing the rate of stent obstruction after SEMS and also prolonging survival. The safety profile appears to be comparable that of placement of SEMS alone without added complications (<10%). The aim of the current study is to compare the efficacy of EBRFA with the addition of SEMS to SEMS alone in a randomized controlled trial.We hypothesize that the application of EBRFA can reduce recurrent biliary obstruction after SEMS.


Eligibility: Inclusion Criteria:
  1. Age ≥ 18 years old with informed consent
  2. Histologically (preferred) or radiologically confirmed distal malignant bile duct tumors
  3. Inoperability by staging, comorbidities or patient wishes
  4. Distal tumors 2cm away from the portal hilum
  5. Bilirubin > 50umol/L at diagnosis
  Exclusion Criteria:
  1. Periampullary tumours
  2. Multiple hepatic metastases with significant blockage of one or more liver segments (if no segment blockage, metastasis is not an exclusion criteria)
  3. Presence of main portal vein thrombosis
  4. Prior SEMS placement
  5. Prior Billroth II or roux-en Y reconstruction
  6. History of bleeding disorder or use of anticoagulation
  7. Child's B/C cirrhosis
  8. Pregnancy
  9. Performance status ECOG ≥3 (confined to bed / chair > 50% waking hours)
  10. Presence of other malignancy
  11. Presence of gastric outlet obstruction
  12. Life expectancy < 3months

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

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
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Selective Internal Radiotherapy (SIRT) Versus Transarterial Chemoembolisation (TACE) for the Treatment of Cholangiocellular Carcinoma (CCC).

Summary: Selective Internal Radiotherapy is superior to Transarterial Chemoembolisation for the treatment of intrahepatic cholangiocellular carcinoma (CCC).


Eligibility: Inclusion Criteria:
  -  ≥18 years
  -  Intrahepatic CCC, proven by histology or by typical morphology in cross sectional imaging and elevated tumor markers (CEA or CA 19-9)
  -  Tumor confined to the liver
  -  At least one measurable lesion in magnetic resonance imaging (MRI)
  -  Tumor load ≤ 50%
  -  Preserved liver function (Child Pugh A and B)
  -  ECOG performance status ≤2
  Exclusion Criteria:
  -  Patients feasible for curative treatment (e.g. resection or local ablation)
  -  Previous TACE or SIRT
  -  Prior Chemotherapy
  -  Child Pugh stage C
  -  ECOG Performance Status >1
  -  Tumor involvement >50% of the liver
  -  Extrahepatic tumor
  -  Serum Bilirubin >2.0 mg/dl; Serum Albumin 2.8 g/dl, Serum Creatinine >2 mg/dl; Leukocytes <3000/ml; Thrombocytes <50000/ml
  -  Clinically apparent ascites (ascites only in CT/MRI is no exclusion criteria)
  -  Esophageal bleeding during the last 3 months
  -  Hepatic encephalopathy
  -  Transjugular intrahepatic portosystemic shunt (TIPS)
  -  Infiltration or occlusion of the main portal vein
  -  Hepatofugal blood flow in the portal vein
  -  Hepatopulmonary shunt ≥ 20% in the macroaggregated albumin scan (MAA-scan)
  -  Contraindications against angiography
  -  Pregnancy

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: A Phase 2 Study of Panitumumab in Patients With Cetuximab-refractory Metastatic Colorectal Cancer

Summary: The purpose of this study is to assess if panitumumab is active enough to warrant comparative studies in patients with metastatic colorectal cancer that has progressed after treatment with cetuximab.

Detailed description: The study was amended with modification of inclusion criteria (from wild-type tumor KRAS gene to wild-type RAS gene, including KRAS and NRAS exons 2, 3 and 4)
  RAS mutational status of tumors of patients enrolled before amendment 1 approval will be centrally revised. Patients whose tumors will result RAS mutated at the biomarkers central revision, will be replaced. Therefore, the overall sample size at both the stages may be higher than the one initially planned.

Eligibility: Inclusion Criteria:
  -  Pathologic diagnosis of metastatic colorectal adenocarcinoma
  -  a wild-type RAS tumor (mutational status has to be determined by an experienced laboratory using validated test methods for detection of KRAS exons 2, 3, and 4, and NRAS exons 2, 3, and 4
  -  Failure from previous treatment with fluoropyrimidine, oxaliplatin and irinotecan. Patients may or may not have been treated with bevacizumab.
  -  Documented disease progression following a treatment with cetuximab in patients who showed either an objective response after 8 weeks or stable disease after 16 weeks of cetuximab treatment.
  -  Age at least 18 years
  -  ECOG Performance Status 0-2
  -  Neutrophils at least 1,500 mm3, platelets at least 100,000 mm3, and hemoglobin at least 9 g/dL
  -  Bilirubin level less than 1.5 times ULN
  -  AST (SGOT) and ALT (SGPT) not greater than 2.5 times ULN (or 5 times ULN in presence of liver metastasis)
  -  Serum creatinine less than 1.5 times ULN
  -  Effective contraception, if the risk of conception exists
  -  Life expectancy at least 3 months
  -  Written informed consent
  Exclusion Criteria:
  -  Symptomatic brain metastasis
  -  Interstitial pneumonitis or pulmonary fibrosis
  -  Any other malignancies within 5 years (except for adequately treated carcinoma in situ of the cervix or non melanoma skin cancer)
  -  Chemotherapy, radiotherapy or immunotherapy within the past 4 weeks
  -  Any unstable systemic disease (including active infections, any significant hepatic, renal or metabolic disease), metabolic dysfunction, physical examination finding, or clinical laboratory finding that contraindicates the use of study drugs or render the patient at high risk from treatment complications
  -  Subject pregnant or breast feeding, or planning to become pregnant within 6 months after the end of treatment

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Role of Bile Duct Resection in Major Hepatectomy Due to Intrahepatic Cholangiocarcinoma

Summary: To investigate the prognosis due to presence or absence of bile duct resection in intrahepatic cholangiocarcinoma that require hepatic lobectomy.

Detailed description: The bile duct resection in hepatic lobectomy due to cholangiocarcinoma, mass forming type, is still controversial. We retrospectively evaluated the effect of bile duct resection in this surgery.

Eligibility: Inclusion Criteria:
  -  Cases of major hepatectomy due to intrahepatic cholangiocarcinoma
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Prognosis of Resection and Radiotherapy in the Treatment of Intrahepatic Cholangiocarcinoma Patients

Summary: The purpose of this study is to confirm that prognosis of Intrahepatic Cholangiocarcinoma (ICC) with resection and radiotherapy ,to find which is safe and effective treatment.

Detailed description: Intrahepatic Cholangiocarcinoma (ICC), the second most common primary liver cancer and constitutes 10% of primary liver malignancies.
  Current therapies for the treatment of ICC are ineffective and the role of liver transplantation is not well defined.
  This study reviews our experience with this tumor and looks for preoperative and pathologic indices that may help determine long term prognosis

Eligibility: Inclusion Criteria:
  -  Male or female patients > 17 years and <=60 years of age. confirmed case (patients with ICC) Tumors can be radical removed and resection volume was ≤50%. Criteria of liver function: Child A level, serum bilirubin ≤ 1.5 times the upper limit of normal value,alanine aminotransferase and aspartate aminotransferase ≤ 2 times the upper limit of normal value.
  No dysfunction in major organs; Blood routine, kidney function, cardiac function and lung function are basically normal. Hbg ≥ 90g/L, WBC ≥ 3.000 cells/mm³,platelets ≥ 80.000 cells/mm³.
  Karnofsky Performance Score performance over 60. Patients who can understand this trial and have signed information consent.
  Exclusion Criteria:
  -  Patients who have undergone previous treatment by Resection or Radiotherapy. Patients with apparent cardiac, pulmonary, cerebronic and renal dysfunction, which may affect the treatment of liver cancer.
  Patients with other diseases which may affect the treatment mentioned here. Patients with medical history of other malignant tumors. Subjects participating in other clinical trials. Extrahepatic metastasis, portal vein or other major vascular involvement. liver function: Child B C.
  Patients would not sign the consent to the trial.

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: VEGF Signaling Promotes Cell Growth and Metastasis in Intrahepatic Cholangiocarcinoma in a VEGF Receptor Mediated Pathway

Summary: The investigators study the VEGF signaling in ICC cell lines／human tissues and its mechanism in HCC growth, proliferation and apoptosis.

Detailed description: Several studies have documented the elevated expression of VEGF and its receptors in ICC cell lines and tumor tissues. Another study observed that the elevation of VEGF promotes the growth. Clinical analyses have discovered the high expression of VEGF is correlated with tumor progression, vascular invasion, distal metastasis and poor prognosis. However, few studies have been conducted to investigate the VEGF signaling in ICC cells and its possible mechanism in regulating ICC growth.Therefore,we try to clarify the mechanism of VEGF signal in ICC growth,proliferation and apoptosis.

Eligibility: Inclusion Criteria:
  1. hepatocellular patients diagnosed through biopsy;or either dynamic imagine with a diagnosis of intrahepatic cholangiocarcinoma and CA199＞100U/L；or two or more dynamic imagine with a diagnosis of intrahepatic cholangiocarcinoma
  2. Child-Pugh A or B
  3. well preserved renal and hematopoietic Function
  4. receive complete surgical therapy
  5. achieve complete section accessed by contrast-enhanced CT
  Exclusion Criteria:
  1. incomplete section
  2. Child-Pugh C
  3. combination with other hepatobiliary disease
  4. suffer from other tumors concurrently or in last five years

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: S-1 in Combination With Abraxane in Treating Cholangiocarcinoma

Summary: This phase II study was designed to evaluate the efficacy and safety of S-1 plus Abraxane as second-line treatment for cholangiocarcinoma.

Detailed description: There are no standard second-line treatment for cholangiocarcinoma, new therapies are needed. The efficacy of S-1 as first-line treatment for cholangiocarcinoma was confirmed in several studies. The IMPACT study showed that Abraxane plus gemcitabine provide better survival than gemcitabine alone. Since cholangiocarcinoma displayed similar sensitivity to chemotherapy which was used in pancreatic carcinoma, we assume that S-1 plus Abraxane is effective and safe in treating cholangiocarcinoma.

Eligibility: Inclusion Criteria:
  -  Histologic or cytologic diagnosis of cholangiocarcinoma
  -  Not eligible for curative surgery
  -  Progressed after first-line gemcitabine-based chemotherapy
  -  Eastern Cooperative Oncology Group (ECOG) performance status of 2 or better
  -  No serious or uncontrolled concomitant medical illness
  -  Adequate bone marrow function (absolute neutrophil count ≧1,500 ul, platelet count ≧90,000/ul), hemoglobin: > or equal to 8 mg/dL, total bilirubin: < or equal to 1.5 X institutional upper limit of normal, calculated creatinine clearance greater than or equal to 60 mL/min (calculated by the Cockcroft and Gault method).
  Exclusion Criteria:
  -  Uncontrolled infection or severe active comorbid disease
  -  Previous malignancy in the past five years, excluding nonmelanoma skin cancers and in situ cervical, bladder or uterine cancer
  -  Pregnancy or lactating women

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Radiofrequency Probe for Management of Unresectable Bile Duct and Pancreatic Cancer

Summary: The purpose of this study is to determine whether the use of an FDA approved endoscopic bipolar catheter (EndoHPB) will ablate tissue in malignant tumors within the pancreatic ducts.

Detailed description: Only a small proportion of patients with biliary obstruction caused by cholangiocarcinoma or pancreatic cancer are suitable for surgical resection. Therefore most patients with malignant biliary obstruction will need palliation of their jaundice to relieve the symptoms of pruritus, malabsorption, sepsis and to minimize potential hepatorenal complications. Restoring biliary flow with relief of jaundice is the primary goal in the palliation of obstructive biliary malignancy. Drainage at endoscopic retrograde cholangiopancreatography (ECRP) is established as a safer approach than at percutaneous transhepatic cholangiography (PTC) because it has a lower risk of bile leak, infection and hemorrhage. ECRP is the first approach to relieve malignant biliary obstruction but sometimes it is not technically possible to stent the patient by this approach, then a PTC needs to be undertaken. Self expanding mesh metal stents (SEMS) were introduced back in the 1990s. Problems can still arise with the use of covered stents such as cholecystitis, pancreatitis or tumor overgrowth at the end of the stent, and not all studies have shown that covered stents actually reduce the problems of tumor ingrowth and consequent stent occlusion. EndoHPB can be deployed via an ERCP or PTC route. By using radiofrequency (RF) energy to heat the tissue in the duct prior to insertion of the stent, the surrounding tissue becomes coagulated and this may may delay tumor growth and the time before the stent lumen becomes blocked. Thereby this allows increased periods between the need for intervention and further stent deployment. If EndoHPB use of luminal RF is demonstrated to be effective in luminal tumor ablation, it may have an additional role as a form of neoadjuvant therapy in cholangiocarcinoma and pancreatic cancer.

Eligibility: Inclusion Criteria:
  -  Either gender greater than or equal to 18 years of age.
  -  Pancreatic Cancer or Cholangiocarcinoma unsuitable for surgical resection. Criteria of unresectability being based on 1) metastatic disease or 2) locally advanced disease.
  -  Biliary Obstruction
  -  Subjects capable of giving informed consent
  -  Life expectancy of at least 3 months
  Exclusion Criteria:
  -  Cardiac Pacemaker
  -  Patient unstable for endoscopy
  -  Inability to give informed consent
  -  Uncorrected coagulopathy
  -  Pregnancy
  -  Karnofsky score less than 40%

Relevance to patient case: not relevant
Patient case: 50-year-old male with cholangiocarcinoma; genetic feature: IDH1

Clinical trial: Effectiveness of WB-EMS Versus HIT-Resistance Training (RT)

Summary: The main aim of the study is to determine the effects of Whole-Body Electromyostimulation (WB-EMS) on body composition and muscle strength compared with the "golden standard" High Intensity Resistance Exercise Training (HIT) in healthy sedentary middle aged males.


Eligibility: Inclusion Criteria:
  -  male, 25 to 55 years old
  -  sedentary / untrained
  -  Body Mass Index 20 - 30 kg/m2
  Exclusion Criteria:
  -  absent ≥ 2 weeks during the interventional period
  -  medication or diseases with relevant impact on muscle metabolism
  -  conditions that prevent WB-EMS (e.g. epilepsy, cardiac pacemaker)
  -  severe neurological diseases

Relevance to patient case: not relevant