NCT01775072

Brief Summary

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
8mo left

Started Jan 2013

Longer than P75 for all trials

Geographic Reach
1 country

18 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress95%
Jan 2013Jan 2027

Study Start

First participant enrolled

January 1, 2013

Completed
20 days until next milestone

First Submitted

Initial submission to the registry

January 21, 2013

Completed
3 days until next milestone

First Posted

Study publicly available on registry

January 24, 2013

Completed
13.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2027

Last Updated

February 10, 2026

Status Verified

February 1, 2026

Enrollment Period

14 years

First QC Date

January 21, 2013

Last Update Submit

February 9, 2026

Conditions

Solid TumorsHematologic Cancers

Keywords

tissuebloodsalviabuccal swabGenomic ProfilingSolid Tumorshematologic cancerClinical AssayResearch Assay12-245

Outcome Measures

Primary Outcomes (1)

  • frequency of "actionable" oncogenic mutations

    "Actionable" mutations will be defined as either 1) a mutation shown to predict for sensitivity or resistance to a drug FDA approved for use in another cancer indication or 2) a mutation which predicts for sensitivity or resistance in preclinical models to an investigational class of drugs.

    1 year

Secondary Outcomes (3)

  • To determine the impact of molecular profiling results performed in the CLIA-setting on the treatment of patients.

    1 year

  • interrogate the mechanisms

    1 year

  • To explore the genetic mechanisms of tumorigenesis

    2

Study Arms (1)

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.

Genetic: molecular profiling of tumorsGenetic: Clinical Germline Analysis

Interventions

molecular profiling of tumorsGENETIC

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.

Pts with solid tumors
Clinical Germline AnalysisGENETIC

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

Pts with solid tumors

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with solid or hematologic cancers who may be and considered potential candidates for a therapeutic protocol will be recruited to Part A of this study. Enrollment to therapeutic clinical trials will not be contingent on enrollment in this protocol. Part B: Research Collection Cohort Patients potentially appropriate will be identified by their treating physician in each participating Disease Management Team.

You may qualify if:

  • 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.

You may not qualify if:

  • All Parts:
  • Unwilling or unable to provide informed consent.
  • Part C:
  • 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.
  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (18)

St. Vincent (Data Collection Only)

Bridgeport, Connecticut, 06606, United States

NOT YET RECRUITING

Hartford Healthcare Cancer Institute @ Hartford Hospital

Hartford, Connecticut, 06102, United States

NOT YET RECRUITING

Norwalk Hospital

Norwalk, Connecticut, 06850, United States

RECRUITING

Baptist Alliance MCI

Miami, Florida, 33143, United States

RECRUITING

Memorial Sloan Kettering Basking Ridge

Basking Ridge, New Jersey, 07920, United States

RECRUITING

Memorial Sloan Kettering Monmouth

Middletown, New Jersey, 07748, United States

RECRUITING

Memorial Sloan Kettering Bergen

Montvale, New Jersey, 07645, United States

RECRUITING

Kings County Hopsital Center

Brooklyn, New York, 11203, United States

RECRUITING

Memorial Sloan Kettering Cancer Commack

Commack, New York, 11725, United States

RECRUITING

Memorial Sloan Kettering Westchester

Harrison, New York, 10604, United States

RECRUITING

Queens Cancer Center of Queens Hospital

Jamaica, New York, 11432, United States

RECRUITING

Metropolitan Hospital Center

New York, New York, 10029, United States

RECRUITING

Ralph Lauren Center for Cancer Care and Prevention

New York, New York, 10035, United States

RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, 10065, United States

RECRUITING

Medisys Health Network (Data Collection Only)

Richmond Hill, New York, 11418, United States

RECRUITING

NYC Health & Hospitals /Lincoln Medical Center

The Bronx, New York, 10451, United States

RECRUITING

Memorial Sloan Kettering Nassau

Uniondale, New York, 11553, United States

RECRUITING

Lehigh Valley Health Network

Allentown, Pennsylvania, 18103, United States

RECRUITING

Related Publications (10)

  • 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.

    PMID: 36187555DERIVED

  • 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.

    PMID: 35483876DERIVED

  • 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.

    PMID: 34466766DERIVED

  • 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.

    PMID: 34308366DERIVED

  • 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.

    PMID: 34133209DERIVED

  • 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.

    PMID: 30552129DERIVED

  • 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.

    PMID: 30455225DERIVED

  • 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.

    PMID: 30137527DERIVED

  • 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.

    PMID: 28911072DERIVED

  • 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.

    PMID: 28873162DERIVED

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

tissue, blood, saliva or nail clippings

MeSH Terms

Conditions

Hematologic Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by SiteNeoplasmsHematologic DiseasesHemic and Lymphatic Diseases

Study Officials

  • David Solit, MD

    Memorial Sloan Kettering Cancer Center

    PRINCIPAL INVESTIGATOR

Central Study Contacts

David Solit, MD

CONTACT

646-888-2641

Zsofia Stadler, MD

CONTACT

646-888-4039

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 21, 2013

First Posted

January 24, 2013

Study Start

January 1, 2013

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Last Updated

February 10, 2026

Record last verified: 2026-02

Locations

US(18)