Genomic Profiling in Cancer Patients

NCT ID: NCT01775072

Last Updated: 2026-01-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-01-31

Study Completion Date

2026-01-31

Brief Summary

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The purpose of this study is to determine whether certain genes in cancer may be abnormal. When a gene is abnormal this is called a mutation. Most mutations in cancer cells are not inherited (passed down from parents) but happen after birth in the cancer itself. Most cancers have many mutations. Some of these mutations are important for the cancer cells to survive while others are not. The goal of this study is test cancer for certain mutations using leftover tumor tissue from a previous surgery or biopsy. Participants will also be asked to provide a tube of blood cheek (also known as a buccal) swab, or a saliva sample that contains normal genes for comparison.

The purpose of Part B of this study is to:

Understand how genetic changes in tumor effect the chance of responding to experimental cancer treatment. Understand how the genes in the tumor change overtime in response to targeted cancer treatment.

Detailed Description

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Conditions

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Solid Tumors Hematologic Cancers

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Pts with solid tumors

Patients must have solid or hematologic cancer. for treatment on a . Patients must have undergone pathologic confirmation of their tumor at MSKCC and have either: 1) archival tissue available for analysis, 2) have fresh tissue collection planned as routine standard of care biopsy or part of a research biopsy under another clinical trial(or peripheral blood / bone marrow collection in the case of hematologic cancers) outside of the context of this protocol, or 3)archival tissue .available at an outside facility. For prospective genotyping tissue specimens from the primary site, a metastasis or recurrence will be used based upon the availability and quality of tissue.

molecular profiling of tumors

Intervention Type GENETIC

Part A is the molecular profiling of tumors. No new tumor biopsies will be performed in the context of Part A. If a pt does have a surgery or tumor biopsy , leftover tissue (or an additional core) from this procedure may be used for molecular profiling. Clinical Assay(s): This testing will be performed in the CLIA-certified Molecular Diagnostics Service laboratory. Research Assay(s): This protocol will also be used as a platform to pilot the use of investigational "next-generation" profiling technologies .including whole exome sequencing, whole genome sequencing RNA sequencing cell-free tumor DNA/RNA sequencing, proteomics, \& others. To confirm the findings obtained on these assays using an orthogonal assay, additional sequencing such as Sanger,Sequenom, MiSeq or IMPACT testing may be utilized in either the CLIA or non-CLIA setting Part B: DTC Cohort Pts successfully registered to Part B of this study will be eligible for minimal risk collection \& research biopsies.

Clinical Germline Analysis

Intervention Type GENETIC

Part C: Clinical Germline Analysis Participants who have donated a matched normal peripheral blood sample for comparison to somatic sequence will be offered the opportunity to have that germline DNA sample analyzed for the presence of deleterious or likely deleterious mutations in genes on the MSK-IMPACT panel that are known to be linked to inherited susceptibility or that are included on consensus lists of genes that should undergo secondary analysis (e.g. the "ACMG list").

Part D: Germline Profiling for Individuals at Elevated Cancer Risk

Interventions

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molecular profiling of tumors

Part A is the molecular profiling of tumors. No new tumor biopsies will be performed in the context of Part A. If a pt does have a surgery or tumor biopsy , leftover tissue (or an additional core) from this procedure may be used for molecular profiling. Clinical Assay(s): This testing will be performed in the CLIA-certified Molecular Diagnostics Service laboratory. Research Assay(s): This protocol will also be used as a platform to pilot the use of investigational "next-generation" profiling technologies .including whole exome sequencing, whole genome sequencing RNA sequencing cell-free tumor DNA/RNA sequencing, proteomics, \& others. To confirm the findings obtained on these assays using an orthogonal assay, additional sequencing such as Sanger,Sequenom, MiSeq or IMPACT testing may be utilized in either the CLIA or non-CLIA setting Part B: DTC Cohort Pts successfully registered to Part B of this study will be eligible for minimal risk collection \& research biopsies.

Intervention Type GENETIC

Clinical Germline Analysis

Part C: Clinical Germline Analysis Participants who have donated a matched normal peripheral blood sample for comparison to somatic sequence will be offered the opportunity to have that germline DNA sample analyzed for the presence of deleterious or likely deleterious mutations in genes on the MSK-IMPACT panel that are known to be linked to inherited susceptibility or that are included on consensus lists of genes that should undergo secondary analysis (e.g. the "ACMG list").

Part D: Germline Profiling for Individuals at Elevated Cancer Risk

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

Part A:

* Patients with a history of cancer or patients without a documented cancer history undergoing a surgical procedure, endoscopy, biopsy, or liquid biopsy (for example cell free DNA testing) to confirm or exclude a cancer diagnosis, or
* Any participant having a test or procedure that has the potential to provide a specimen that can be banked for future research purposes, or
* Any participant who has already had a diagnostic or therapeutic procedure that has yielded tissue, blood or other bodily fluids presently in the archive but who has not yet been approached to participate is also eligible.

Part B:

* Patients must be successfully registered to Part A of MSKCC IRB# 12-245
* Prior written approval for patient consent obtained from the Principal/Co-Principal Investigator of MSKCC IRB # 12-245.

Part C:

* Patient must be receiving ongoing care at MSK or a CHERPn/ Alliance/Affiliate site or have previously consulted with an MSK physician.
* Patient must have successfully consented to Part A of this study.

Part D:

* Patients with no personal cancer history at increased risk for cancer development due to family history, molecular cancer marker, know carrier status of a gene associated with increased cancer risk or prior/ongoing environmental exposures or lifestyle factors.

Exclusion Criteria

All Parts:

* Unwilling or unable to provide informed consent.

Part C:


1. Solid tumor patients: Secondary germline analysis using BAM files generated for MSK-IMPACT testing is not an option for patients with solid tumors and an acute or chronic hematologic neoplasm that would preclude the use of blood or saliva as a source of germline DNA. Such patient may be eligible for primary germline testing using a non-blood source of germline DNA as per standard clinical guidelines. Solid tumor patients who have had an allogenic bone marrow/stem cell transplant will only be considered eligible for germline testing under Part C if a sample adequate for germline testing had previously been collected prior to allogenic bone marrow/stem cell transplant.
2. Hematologic cancer patients: For patients with a hematopoietic neoplasm, germline testing may be an option under Part C using nail clippings or another non-blood source of DNA as per standard clinical practice. For patients who have had an allogenic bone marrow/stem cell transplant, clinical germline testing will only be considered under Part C if a sample adequate for germline testing had previously been collected prior to Allogenic bone marrow/stem cell transplant.

Part D
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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David Solit, MD

Role: PRINCIPAL_INVESTIGATOR

Memorial Sloan Kettering Cancer Center

Locations

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St. Vincent (Data Collection Only)

Bridgeport, Connecticut, United States

Site Status NOT_YET_RECRUITING

Hartford Healthcare Cancer Institute @ Hartford Hospital

Hartford, Connecticut, United States

Site Status NOT_YET_RECRUITING

Norwalk Hospital

Norwalk, Connecticut, United States

Site Status RECRUITING

Baptist Alliance MCI

Miami, Florida, United States

Site Status RECRUITING

Memorial Sloan Kettering Basking Ridge

Basking Ridge, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Monmouth

Middletown, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Bergen

Montvale, New Jersey, United States

Site Status RECRUITING

Kings County Hopsital Center

Brooklyn, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Commack

Commack, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Westchester

Harrison, New York, United States

Site Status RECRUITING

Queens Cancer Center of Queens Hospital

Jamaica, New York, United States

Site Status RECRUITING

Metropolitan Hospital Center

New York, New York, United States

Site Status RECRUITING

Ralph Lauren Center for Cancer Care and Prevention

New York, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status RECRUITING

Medisys Health Network (Data Collection Only)

Richmond Hill, New York, United States

Site Status RECRUITING

NYC Health & Hospitals /Lincoln Medical Center

The Bronx, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Nassau

Uniondale, New York, United States

Site Status RECRUITING

Lehigh Valley Health Network

Allentown, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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David Solit, MD

Role: CONTACT

646-888-2641

Zsofia Stadler, MD

Role: CONTACT

646-888-4039

Facility Contacts

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Christopher Iannuzzi, MD

Role: primary

203-576-6000

Andrew Salner, MD

Role: primary

860-972-2803

Linda Vahdat, MD

Role: primary

203-845-4811

John Diaz, MD

Role: primary

786-596-2000

David Solit, MD

Role: primary

646-888-2641

David Solit, MD

Role: primary

646-888-2641

David Solit, MD

Role: primary

646-888-2641

Jason Gonsky, MD

Role: primary

718-245-2847

David Solit, MD

Role: primary

646-888-2641

David Solit, MD

Role: primary

646-888-2641

Margaret Kemeny, MD

Role: primary

718-883-4031

Anitha Srinivasan, MD

Role: primary

212-423-6262

Lewis P. Kampel, MD

Role: primary

646-422-4474

David Solit, MD

Role: primary

646-888-2641

Zsofia Stadler, MD

Role: backup

646-888-4039

Rosa Nouvini, MD

Role: primary

718-206-6000

Monica Reddy Muppidi, MD

Role: primary

718-579-4977

David Solit, MD

Role: primary

646-888-2641

Suresh Nair, MD

Role: primary

610-402-7880

References

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Seldon CS, Meiyappan K, Hoffman H, Guo JA, Goel N, Hwang WL, Nguyen PL, Mahal BA, Alshalalfa M. Genomic alterations predictive of poor clinical outcomes in pan-cancer. Oncotarget. 2022 Sep 28;13:1069-1077. doi: 10.18632/oncotarget.28276. eCollection 2022.

Reference Type DERIVED
PMID: 36187555 (View on PubMed)

Rosenzweig J, Pillai PM, Prockop S, Benayed R, Eidenschink Brodersen L, Najfeld V, Loken MR, Zhang Y, Shukla N. Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006167. doi: 10.1101/mcs.a006167. Print 2022 Apr.

Reference Type DERIVED
PMID: 35483876 (View on PubMed)

Lin AL, Tabar V, Young RJ, Cohen M, Cuaron J, Yang TJ, Rosenblum M, Rudneva VA, Geer EB, Bodei L. Synergism of Checkpoint Inhibitors and Peptide Receptor Radionuclide Therapy in the Treatment of Pituitary Carcinoma. J Endocr Soc. 2021 Aug 7;5(10):bvab133. doi: 10.1210/jendso/bvab133. eCollection 2021 Oct 1.

Reference Type DERIVED
PMID: 34466766 (View on PubMed)

Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF. Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors. Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.

Reference Type DERIVED
PMID: 34308366 (View on PubMed)

Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME. Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. J Clin Oncol. 2021 Aug 20;39(24):2698-2709. doi: 10.1200/JCO.20.03661. Epub 2021 Jun 16.

Reference Type DERIVED
PMID: 34133209 (View on PubMed)

Diolaiti D, Dela Cruz FS, Gundem G, Bouvier N, Boulad M, Zhang Y, Chou AJ, Dunkel IJ, Sanghvi R, Shah M, Geiger H, Rahman S, Felice V, Wrzeszczynski KO, Darnell RB, Antonescu CR, French CA, Papaemmanuil E, Kung AL, Shukla N. A recurrent novel MGA-NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcoma. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003194. doi: 10.1101/mcs.a003194. Print 2018 Dec.

Reference Type DERIVED
PMID: 30552129 (View on PubMed)

Forlenza CJ, Zhang Y, Yao J, Benayed R, Steinherz P, Ramaswamy K, Kessel R, Roshal M, Shukla N. A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003426. doi: 10.1101/mcs.a003426. Print 2018 Dec.

Reference Type DERIVED
PMID: 30455225 (View on PubMed)

Boucai L, Falcone J, Ukena J, Coombs CC, Zehir A, Ptashkin R, Berger MF, Levine RL, Fagin JA. Radioactive Iodine-Related Clonal Hematopoiesis in Thyroid Cancer Is Common and Associated With Decreased Survival. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4216-4223. doi: 10.1210/jc.2018-00803.

Reference Type DERIVED
PMID: 30137527 (View on PubMed)

Schram AM, Reales D, Galle J, Cambria R, Durany R, Feldman D, Sherman E, Rosenberg J, D'Andrea G, Baxi S, Janjigian Y, Tap W, Dickler M, Baselga J, Taylor BS, Chakravarty D, Gao J, Schultz N, Solit DB, Berger MF, Hyman DM. Oncologist use and perception of large panel next-generation tumor sequencing. Ann Oncol. 2017 Sep 1;28(9):2298-2304. doi: 10.1093/annonc/mdx294.

Reference Type DERIVED
PMID: 28911072 (View on PubMed)

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

Reference Type DERIVED
PMID: 28873162 (View on PubMed)

Related Links

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http://www.mskcc.org/

Memorial Sloan Kettering Cancer Center

Other Identifiers

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12-245

Identifier Type: -

Identifier Source: org_study_id

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