araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Study of Safety and Efficacy of HDM201 in Combination With LEE011 in Patients With Liposarcoma

Summary: To determine the MTD/RP2D of the HDM201 and LEE011 combination and evaluate whether the combination is safe and has beneficial effects in patients with liposarcoma.


Eligibility: Inclusion Criteria:
  -  Patients with histologically documented, locally advanced or metastatic WD/DD liposarcoma who have received at least one prior systemic therapy
  -  Patients with radiologic progression, defined by RECIST v.1.1, occurring while on/or within 6 months after last systemic treatment, prior to enrollment
  -  ECOG performance status of 0-1
  Exclusion Criteria:
  -  Prior treatment with compounds with the same mode of action
  -  Patients with TP53 mutated tumors, if the molecular status is known
  -  Symptomatic central nervous system metastases
  -  Inadequate organ function
  -  Previous and concomitant therapy that precludes enrollment, as defined by protocol
  Other protocol-defined inclusion/exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Efficacy and Safety of Trabectedin (Yondelis®) in Patients With Advanced Soft Tissue Sarcoma

Summary: Efficacy and safety of trabectedin in real-life practice, routinely used for the management of advanced sarcoma after failure of anthracyclines and ifosfamide or patients unsuited to receive these drugs in Germany.
  Trabectedin is indicated for the treatment of patients with advanced soft tissue sarcoma, after failure of anthracyclines and ifosfamide, or who are unsuited to receive these agents. Efficacy data are based mainly on liposarcoma and leiomyosarcoma patients.

Detailed description: This is a non-interventional, observational and prospective study to evaluate efficacy and safety of trabectedin in routine practice. Patients are assigned to a therapeutic strategy within current practice, not according to a trial protocol. The prescription of the medicine is separated from the decision to include the patient in the study. Diagnostic or monitoring procedures are only those ordinarily applied to the therapeutic strategy.
  There are no dose regimens or medical procedures defined within this study plan. Every medical decision and course of treatment with trabectedin will reflect exclusively the decision of the Investigator in a routine clinical situation according to SmPC. The concept of this non-interventional study and its documentation procedure will not affect in any way the routine treatment situation.

Eligibility: Inclusion Criteria:
  -  Patients must comply with all of the following criteria in order to be enrolled into the study:
  -  Histologically diagnosed advanced STS
  -  Female or male aged 18 years or above
  -  Signed written informed consent
  -  Suitable to undergo treatment with trabectedin according to SmPC
  -  Progress after therapy with anthracyclines and ifosfamide has failed, or if patients are unsuited to receive these agents
  Exclusion Criteria:
  -  Patients presenting contraindications for the use of trabectedin as defined in the SmPC will be excluded from participating in the study.

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Post-Marketing Surveillance Study of Eribulin on the Status and Factors for the Development of Peripheral Neuropathy in Japan.

Summary: The primary objective of the study is to clarify factors affecting the incidence of peripheral neuropathy in patients treated with HALAVEN. A total of 590 patients will be enrolled in this study with 295 patients in the treatment group of primary or secondary chemotherapy and 295 patients in the treatment group of tertiary or later chemotherapy.


Eligibility: Inclusion criteria:
  Patients with HER2-negative inoperable or recurrent breast cancer.
  Exclusion criteria:
  Patients with high-grade bone marrow depression (absolute neutrophil count less than 1,000 /mm^3, absolute platelet count less than 75,000 /mm^3).
  Patients with a history of hypersensitivity to the ingredients of HALAVEN. Women who are pregnant or may be pregnant. Patients with a history of use of HALAVEN.

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Patients With Refractory, Metastatic Cancer Harboring KIT Mutation or Amplification to Investigate the Clinical Efficacy and Safety of Imatinib Therapy

Summary: KIT is a receptor tyrosine kinase that binds to stem-cell factor (SCF), activating a series of downstream effector pathways. KIT is an established therapeutic target in cancer with activating mutations of KIT, such as gastrointestinal stromal tumors (GIST), and significant benefit is achieved with various small molecule inhibitors of KIT such as imatinib mesylate. Moreover, there is increasing evidence implicating KIT mutations as tractable therapeutic targets in melanoma. Additional information is required to characterize the functional role of low-frequency mutations in KIT and to determine whether amplification of wild type KIT is a real driver that can be targeted therapeutically. Except GIST and melanoma, other solid cancers were reported to have KIT mutation even in low frequency. A molecular profiling of the tumors of patients referred to the phase I clinic at the M.D. Anderson Cancer Center showed KIT mutation in 7 patients in total of 431 patients (2%).
  Hence, the investigators planned this study to apply the molecularly targeted agent, imatinib to various types of cancers harboring KIT mutation or amplification.


Eligibility: Inclusion Criteria:
  1. age ≥ 20
  2. advanced, refractory cancer patients who failed standard of care (SOC)
  3. KIT aberration: defined as mutation in exons 9, 11, 13, 17 or 18, or nanostring CNV by quantitative PCR (greater than 3 copies) or subject with specific sensitivity (Z-score<-1) to imatinib by Avatar scan whose disease has progressed following standard therapy or that has not responded to standard therapy or for which there is no standard therapy
  4. ECOG performance status of 0~2
  5. measurable or evaluable lesion per RECIST 1.1 criteria
  6. adequate marrow, hepatic, renal and cardiac functions
  -  Serum aspartate transaminase (AST) and serum alanine transaminase (ALT) ≤ 2.5 x upper limit of normal (ULN), or AST and ALT ≤ 5 x ULN if liver function abnormalities are due to underlying malignancy
  -  Total serum bilirubin ≤ 1.5 x ULN
  -  Absolute neutrophil count(ANC) ≥ 1,500/uL
  -  Platelets ≥ 100,0000/uL
  -  Hemoglobin ≥ 9.0 g/dL
  7. provision of a signed written informed consent
  Exclusion Criteria:
  1. severe co-morbid illness and/or active infections
  2. pregnant or lactating women
  3. history of major surgery or radiotherapy within 4 weeks
  4. active CNS metastases not controllable with radiotherapy or corticosteroids (however, CNS metastases (except for leptomeningeal seeding) are allowed if controlled by gamma knife surgery or surgery or radiotherapy or steroid)
  5. known history of hypersensitivity to study drugs

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: A Phase 1 Study of BLU-554 in Patients With Hepatocellular Carcinoma

Summary: This is a Phase 1, open-label, first-in-human (FIH) study designed to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary antineoplastic activity of BLU- 554 administered orally in patients with hepatocellular carcinoma (HCC). The study consists of 2 parts, a dose-escalation part (Part 1) and an expansion part (Part 2) exploring both a once daily (qd) and twice daily (bid) dosing schedule.


Eligibility: Key Inclusion Criteria:
  -  Confirmed diagnosis of HCC by histological examination or by non-invasive criteria according to European Association for the Study of the Liver (EASL) or American Association for the Study of Liver Disease (AASLD) guidelines. Patient has unresectable disease and has been previously treated with sorafenib, has declined treatment with sorafenib, or does not have access to sorafenib.
  OR
  -  In Part 1 only, confirmed diagnosis of a relapsed or refractory advanced solid tumor other than HCC that has evidence of aberrant FGF19/FGFR4 pathway activity [e.g. tumor or blood/plasma alterations including, but not limited to, 11q13.1 locus (FGF19/CCND1 (cyclin D1)) amplification/copy number gain]
  -  Child-Pugh class A with no clinically apparent ascites
  -  Eastern Cooperative Oncology Group (ECOG) performance status of 0-1
  -  For Part 1, willing to provide archived tumor tissue (if available) and willing to undergo pre- and on-treatment tumor biopsy (if considered safe and medically feasible by the treating investigator)
  -  For Part 2, all patients must have an FGF19 IHC result available. Only FGF19 IHC positive HCC patients will be eligible for Part 2 of the bid dosing schedule.
  Key Exclusion Criteria:
  -  Central nervous system metastases
  -  Platelet count <75,000/mL
  -  Absolute neutrophil count <1000/mL
  -  Hemoglobin <8 g/dL
  -  Aspartate aminotransferase (AST) or alanine aminotransferase (ALT) >5x the upper limit of normal (ULN)
  -  Total bilirubin >2.5 mg/dL
  -  International normalized ratio (INR) >2.3 or prothrombin time (PT) >6 seconds above control
  -  Estimated (Cockroft-Gault formula) or measured creatinine clearance <40 mL/min

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: A Study of Idasanutlin With Cytarabine Versus Cytarabine Plus Placebo in Patients With Relapsed or Refractory Acute Myeloid Leukemia

Summary: This study is designed to compare Overall Survival (OS) in participants with relapsed or refractory Acute Myeloid Leukemia (AML) treated with idasanutlin in combination with cytarabine versus participants treated with placebo and cytarabine. Participants will receive induction treatment with idasanutlin/placebo and cytarabine (Cycle 1). Responding patients may continue to receive a maximum of further two cycles of consolidation (Cycle 2 and Cycle 3). Complete remission (CR), CR with incomplete platelet count recovery (CRp), overall remission rate (ORR), event-free survival (EFS), leukemia-free survival (LFS) and percentage of participants with an allogeneic hematopoietic stem cell transplant (HSCT) will also be compared between treatment arms. This study will include participants without (TP53 wild-type) and with TP53 mutations.


Eligibility: Inclusion Criteria:
  -  Age >=18 years
  -  Documented/confirmed 1st/2nd refractory/relapsed acute myeloid leukemia (AML) using World Health Organization classification, except acute promyelocytic leukemia.
  -  No more than 2 prior induction regimens (excluding prior hematopoietic stem cell transplant [HSCT]) and one must have included cytarabine with an anthracycline (or anthracenedione)
  -  Eastern Cooperative Oncology Group performance status of 0 to 1
  -  Patient should be a potential candidate for allogeneic HSCT
  -  Adequate hepatic and renal function
  Exclusion Criteria:
  -  Patients with first complete remission (CR1) duration of >1 year AND age <60 years
  -  Patients with AML with myelodysplasia related changes, or AML that has developed as a consequence of an antecedent hematological disorder (AHD)
  -  AML secondary to any prior chemotherapy unrelated to leukemia
  -  Patients who have received more than two prior cytarabine containing induction regimens for AML
  -  Patients who have relapsed within 90 days after therapy with intermediate-dose cytosine arabinoside (IDAC) or high-dose cytosine arabinoside (HiDAC) containing regimens
  -  Patients who have received allogeneic HSCT within 90 days prior to randomization.
  -  Patients who have received immunosuppressive therapy for graft versus host disease (G versus HD) within 2 weeks prior to study start
  -  Prior treatment with a Murine Double Minute 2 (MDM2) antagonist
  -  Patients receiving any other investigational or commercial agents or therapies administered with the intention to treat their malignancy
  -  Patients with a history of other malignancy within 5 years prior to screening.
  -  Patients who have any severe and/or uncontrolled medical conditions or other conditions that could affect their participation in the study
  -  Pregnant or breastfeeding patients

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: A Study of ABT-414 in Subjects With Newly Diagnosed Glioblastoma (GBM) With Epidermal Growth Factor Receptor (EGFR) Amplification

Summary: This study seeks to determine whether the addition of ABT-414 to concomitant radiotherapy and temozolomide (TMZ) prolongs progression free survival (PFS) and overall survival (OS) in participants with newly diagnosed glioblastoma (GBM) with epidermal growth factor receptor (EGFR) amplification.
  In addition, this is a Phase 1, open-label, multicenter sub-study to assess the pharmacokinetics, safety and tolerability of ABT-414 in subjects with newly diagnosed EGFR-amplified GBM who have mild or moderate hepatic impairment.


Eligibility: Inclusion Criteria:
  1. Must have a clinical diagnosis of Glioblastoma (GBM)
  2. Must have a confirmed Epidermal growth factor receptor amplification in tumor tissue
  3. Must have a Karnofsky Performance Status (KPS) performance score of 70 - 100 (N/A to the sub-study)
  4. Must have recovered from effects of surgery, postoperative infection and other complications of surgery
  5. Must have adequate bone marrow, renal, and hepatic function (For the sub-study, the subject must have adequate bone marrow and renal function and have mild-to-moderate hepatic impairment)
  Exclusion Criteria:
  1. Multifocal, recurrent or metastatic Glioblastoma (GBM) or gliomatosis cerebri (For the sub-study, the subject can have multifocal GBM and gliomatosis cerebri but can't have recurrent or metastatic GBM )
  2. Prior chemo therapy or radiosensitizer for head and neck cancer.
  3. Prior radiotherapy to the head or neck in overlap of radiation fields.
  4. Prior therapy for glioblastoma or other invasive malignancy.
  5. Prior, concomitant or planned treatment with Novo-TTF, EGFR-targeted therapy, bevacizumab, Gliadel wafers or other intratumoral or intracavity anti-neoplastic therapy.

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Selinexor in Advanced Liposarcoma

Summary: This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2-3 study of patients diagnosed with advanced unresectable dedifferentiated liposarcoma. Approximately 245 total patients will be randomized to study treatment (selinexor or placebo).

Detailed description: In the Phase 2 portion of the study, approximately 50 patients will be randomized to selinexor (60 mg) or placebo at a 1:1 allocation ratio.
  In the Phase 3 portion of the study, approximately 195 patients will be randomized to selinexor (60 mg) or placebo with a 2:1 allocation ratio.
  Patients who progress during the blinded portion of the study will be unblinded and if receiving:
  -  placebo, may cross over to open-label selinexor (60mg twice weekly)
  -  selinexor, will be withdrawn from further treatment and followed for survival
  Study treatment will be given twice weekly on Day 1 and Day 3 during Weeks 1-6 of each six-week (42 day) cycle until disease progression or intolerability.
  Treatment will continue until one or more of the following occurs:
  -  Disease progression, as defined by WHO criteria
  -  Clinical progression, as determined by the treating physician
  -  Unacceptable AEs or failure to tolerate study treatment
  -  Patient withdrawal
  -  Patient discontinuation due to non-compliance

Eligibility: Inclusion Criteria:
  1. Patients ≥12 years of age
  2. Body surface area (BSA) ≥ 1.2 m2
  3. Histologic evidence of DDLS at any time prior to randomization AND current evidence of DDLS requiring treatment
  4. Must have measurable disease by the bidimensional WHO Response Criteria
  5. Radiologic evidence of disease progression within 6 months prior to randomization. If the patient received other intervening therapy after documented disease progression, further disease progression must be documented after the completion of the intervening therapy
  6. Must have had at least one (1) prior line of systemic therapy for liposarcoma (no maximum number)
  7. If patient received any previous systemic therapy, the last dose must have been ≥ 21 days prior to randomization (or ≥ 5 half-lives of that drug - whichever is shorter) with all clinically significant therapy- related toxicities having resolved to less than or equal to Grade 1
  Exclusion Criteria:
  1. Patients with pure WDLS, myxoid/round cell or pleomorphic tumor histologic subtypes.
  2. Known active Hepatitis B (HepB), Hepatitis C (HepC) or human immunodeficiency virus (HIV) infection.
  3. Known central nervous system metastases

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Mutation of BRCA1/2 and Other Potential Genes in Triple-negative Breast Cancer

Summary: The study is to determine the prevalence of potential chemo-response related genes mutation in TNBC patients between pCR and SD/PD group, which achieved after NAC; and to evaluate potential relationship between these gene mutations and NAC-response in TNBC patients.Based on the results,we can further characterize TNBC from a phenotypical and molecular perspective, in order to identify potential new target agents and to individualize the treatment.

Detailed description: This is single centre，exploratory，parallel and retrospective study to analysis the mutation and expression of tBRCA1/2 and other potential genes in triple-negative breast cancer. Patients received neoadjuvant chemotherapy with paclitaxel and carboplation are enrolled in this study. The participants are required to have clinical stage II or III breast cancer with a clinical or radiographically measurable residual tumor after core biopsy. We will enroll the patients of pCR or SD/PD, which achieved after complete NAC. Every group will enroll 50 patients. This study is to identify relationship between different gene mutations and expression, which may be targeted with currently available investigational drugs, and chemo-response.
  Patients who will fulfil all inclusion/exclusion criteria. We conducted a retrospective chart review of the 100 patients.

Eligibility: Inclusion Criteria:
  Patients receiving neoadjuvant chemotherapy with paclitaxel and carboplation are enrolled in this study.
  -  (1) histologically confirmed mainly invasive breast carcinoma
  -  (2) a unilateral and non-inflammatory tumors
  -  (3) status of ER, PR and HER-2 are available and negative
  -  (4) The participants are required to have clinical stage II or III breast cancer with a clinical or radiographically measurable residual tumor after core biopsy.
  -  (5)patients had pathological evaluation after NAC
  -  (6) the pathologic tissues are available for immunohistochemistry and next generation sequencing
  Exclusion Criteria:
  -  (1) carcinoma in situ
  -  (2) received less than 4 cycles neoadjuvant chemotherapy

Relevance to patient case: not relevant
Patient case: 26-year-old male with Liposarcoma. Genetic variant: MDM2 Amplification. Other conditions: None.

Clinical trial: Correlation of Anal Acoustic Reflectometry Parameters With Degree of Rectal Intussusception and Prolapse

Summary: Anal Acoustic Reflectometry (AAR) is a reliable and reproducible technique that has been studied in our department over the last 6 years. Sound waves pass into a balloon placed in the anal canal and are used to measure the cross-sectional area. By gradually increasing and decreasing the pressure in the balloon the investigators can measure the pressure at which the cross-sectional area starts to increase and decrease, and the anal canal starts to open and close. This assessment mimics the natural opening and closing of the anal canal and the effect of squeezing the muscles.
  Rectal intussusception occurs when the rectal wall telescopes into itself distally and is termed prolapse when it protrudes through the anal canal. Not all patients will require surgery and, for some, it can lead to debilitating symptoms of constipation, pain and faecal incontinence. Currently, the Oxford grading system through radiological testing is used for classifying severity of rectal intussusception and prolapse; however this does not give us sufficient information about the anal sphincter muscles.
  The gold standard investigation of the anal sphincter muscles has been manometry which measures anal canal pressure at rest and during squeeze. However, it has limitations. In previous studies AAR has shown promise in the assessment of faecal incontinence and, that unlike manometry, it has been able to distinguish between different types of incontinence. Thus far, it has not been studied in patients with rectal intussusception and it is hoped that AAR parameters may provide an indication of when rectal intussusception becomes overt rectal prolapse. This can inform the clinician to guide further management of a group of patients with a condition that can have significant impact on quality of life.


Eligibility: Inclusion Criteria:
  -  Adults over 18 years old
  -  Have capacity to consent to the study
  -  Patients with pelvic floor dysfunction and symptoms of rectal intussusception and rectal prolapse
  Exclusion Criteria:
  -  Minors under the age of 18 years old
  -  Patients who lack capacity to consent
  -  Patients without pelvic floor dysfunction or symptoms of rectal intussusception or rectal prolapse

Relevance to patient case: not relevant