CClinicalTrials.gg
RecruitingNCT01775072Updated Sep 24, 2026

Genomic Profiling in Cancer Patients

An observational study in Solid Tumors and Hematologic Cancers, sponsored by Memorial Sloan Kettering Cancer Center. Recruiting at 18 sites in United States. Per ClinicalTrials.gov, last updated 2026-09-24.

Sponsored by Memorial Sloan Kettering Cancer Center · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
200
Sex
All
01

Study 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.

02

Conditions studied

  • Solid Tumors
  • Hematologic Cancers

Keywords

  • tissue
  • blood
  • salvia
  • buccal swab
  • Genomic Profiling
  • Solid Tumors
  • hematologic cancer
  • Clinical Assay
  • Research Assay
  • 12-245
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-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.

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

Exclusion Criteria:

All Parts:

  • Unwilling or unable to provide informed consent.

Part C:

  • All patients consenting to Part A are eligible to consent to 12-245, Part C. Most patients will be eligible to receive clinical germline testing with return of results to the patient/health care providers. However, several exclusion criteria apply and are outlined below

    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

  • Exclusion criteria are same as those for Part C outlined above.
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Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
200 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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 tumors · Genetic: Clinical Germline Analysis

Interventions

  • Geneticmolecular 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.

  • GeneticClinical 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

05

What researchers measure

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.

    Time frame: 1 year

Secondary outcomes

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

    The Bioinformatics Core will assist in interpreting data generated by next-generation sequencing techniques such as WES and WGS.

    Time frame: 1 year

  2. interrogate the mechanisms

    underlying response and resistance (de-novo and acquired) to targeted therapy. The research assay(s) used to accomplish this will vary based on the clinical setting and tissue available and may include Sanger, Sequenom, MiSeq, exon-capture (ie: IMPACT), whole exome, and whole genome sequencing.

    Time frame: 1 year

  3. To explore the genetic mechanisms of tumorigenesis

    in a subset of specimens with no identifiable culpritic genomic alterations on highly-multiplexed next-generation sequencing (i.e.: IMPACT testing) by using even more comprehensive investigational profiling techniques such as whole exome sequencing, whole genome sequencing or RNA sequencing

    Time frame: 2

06

Study locations

16 of 18 sites recruiting
  • St. Vincent (Data Collection Only)
    Bridgeport, Connecticut 06606, United States
    • Christopher Iannuzzi, MD · Contact · 203-576-6000
    Not yet recruiting
  • Hartford Healthcare Cancer Institute @ Hartford Hospital
    Hartford, Connecticut 06102, United States
    • Andrew Salner, MD · Contact · 860-972-2803
    Not yet recruiting
  • Norwalk Hospital
    Norwalk, Connecticut 06850, United States
    • Linda Vahdat, MD · Contact · 203-845-4811
    Recruiting
  • Baptist Alliance MCI
    Miami, Florida 33143, United States
    • John Diaz, MD · Contact · 786-596-2000
    Recruiting
  • Memorial Sloan Kettering Basking Ridge
    Basking Ridge, New Jersey 07920, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Memorial Sloan Kettering Monmouth
    Middletown, New Jersey 07748, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Memorial Sloan Kettering Bergen
    Montvale, New Jersey 07645, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Kings County Hopsital Center
    Brooklyn, New York 11203, United States
    • Jason Gonsky, MD · Contact · 718-245-2847
    Recruiting
  • Memorial Sloan Kettering Cancer Commack
    Commack, New York 11725, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Memorial Sloan Kettering Westchester
    Harrison, New York 10604, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Queens Cancer Center of Queens Hospital
    Jamaica, New York 11432, United States
    • Debra Ferman, MD · Contact · 718-579-6021
    Recruiting
  • Metropolitan Hospital Center
    New York, New York 10029, United States
    • Anitha Srinivasan, MD · Contact · 212-423-6262
    Recruiting
  • Ralph Lauren Center for Cancer Care and Prevention
    New York, New York 10035, United States
    • Lewis P. Kampel, MD · Contact · 646-422-4474
    Recruiting
  • Memorial Sloan Kettering Cancer Center
    New York, New York 10065, United States
    • David Solit, MD · Contact · 646-888-2641
    • Zsofia Stadler, MD · Contact · 646-888-4039
    • David Solit, MD · Principal investigator
    Recruiting
  • Medisys Health Network (Data Collection Only)
    Richmond Hill, New York 11418, United States
    • Rosa Nouvini, MD · Contact · 718-206-6000
    Recruiting
  • NYC Health & Hospitals /Lincoln Medical Center
    The Bronx, New York 10451, United States
    • Monica Reddy Muppidi, MD · Contact · 718-579-4977
    • Monica Reddy Muppidi, MD · Principal investigator
    Recruiting
  • Memorial Sloan Kettering Nassau
    Uniondale, New York 11553, United States
    • David Solit, MD · Contact · 646-888-2641
    Recruiting
  • Lehigh Valley Health Network
    Allentown, Pennsylvania 18103, United States
    • Suresh Nair, MD · Contact · 610-402-7880
    Recruiting
07

References and documents

Publications

  • Borio M, Sheehan M, Katabi N, Sacca RE, Maio A, Kemel Y, Khurram A, Mandelker D, Birsoy O, Solit D, Carlo MI, Liu Y, Abbass M, Banaszak L, Kesserwan C, Murciano-Goroff YR, Latham A, Offit K, Wong RJ, Ghossein R, Boucai L, Tuttle M, Stadler ZK. Prevalence of Germline Pathogenic RET Variants in a Pan-Cancer Patient Population. JCO Precis Oncol. 2026 May;10(5):e2500737. doi: 10.1200/PO-25-00737. Epub 2026 May 22. PubMed 42172561 ↗
  • Gelfer R, Gulla A, Kalvin HL, Song Y, Harding J, Abou-Alfa GK, O'Reilly EM, Park W, Chandwani R, Wei A, Kingham P, Drebin J, Balachandran V, D'Angelica M, Soares K, Gonen M, Jarnagin WR. KRAS Variants Are Associated With Survival Outcomes and Genomic Alterations in Biliary Tract Cancers. JCO Precis Oncol. 2024 Dec;8:e2400263. doi: 10.1200/PO.24.00263. Epub 2024 Dec 6. PubMed 39642327 ↗
  • Mondaca S, Walch H, Sepulveda S, Schultz N, Munoz G, Yaqubie A, Macanas P, Pareja C, Garcia P, Chatila W, Nervi B, Li B, Harding JJ, Viviani P, Roa JC, Abou-Alfa GK. Clinical and Genomic Characterization of ERBB2-Altered Gallbladder Cancer: Exploring Differences Between an American and a Chilean Cohort. JCO Glob Oncol. 2024 Oct;10:e2400090. doi: 10.1200/GO.24.00090. Epub 2024 Oct 10. PubMed 39388662 ↗
  • 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. PubMed 36187555 ↗
  • 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. PubMed 35483876 ↗
  • 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. PubMed 34466766 ↗
  • 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. PubMed 34308366 ↗
  • 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. PubMed 34133209 ↗
  • 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. PubMed 30552129 ↗
  • 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. PubMed 30455225 ↗
  • 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. PubMed 30137527 ↗
  • 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. PubMed 28911072 ↗
  • 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. PubMed 28873162 ↗
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Registry details

Key details

Study ID
NCT01775072
Lead sponsor
Memorial Sloan Kettering Cancer Center
Responsible party
Sponsor
First posted
Jan 24, 2013
Start date
Jan 2013
Primary completion
Jan 2027 (estimated)
Completion
Jan 2027 (estimated)
Last update
Sep 24, 2026

Study contacts

David Solit, MD
Contact
646-888-2641
Zsofia Stadler, MD
Contact
646-888-4039
David Solit, MD
principal investigator · Memorial Sloan Kettering Cancer Center
View the source record on ClinicalTrials.gov ↗

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