New Diagnostic Test for Blood Cancers Will Help Doctors Tailor Treatments

Pictured: Ross Levine

Physician-scientist Ross Levine

A new diagnostic test that identifies genetic alterations in blood cancers will enable physicians to match patients with the best treatments for leukemias, lymphomas, and myelomas. Co-developed by Memorial Sloan Kettering and cancer genomics company Foundation Medicine, the test analyzes samples from patients with the blood diseases and provides information about hundreds of genes known to be associated with these disorders.

The genetic profile will help physicians make more-accurate prognoses and also guide them in treatment recommendations — from deciding whether to take an intensive approach with existing drugs such as chemotherapy to enrolling patients in clinical trials investigating novel therapies. The new test is produced commercially by Foundation Medicine and is expected to be available by the end of this year.

Medical oncologist Ross Levine, who led research at Memorial Sloan Kettering contributing to the development of the test along with physician-scientists Marcel van den Brink, Ahmet Dogan, and Scott Armstrong, presented results demonstrating its accuracy today at the annual meeting of the American Society of Hematology in New Orleans.

A Tool with Broad Impact

The test will play an essential role in the clinical care of most patients with blood disorders at Memorial Sloan Kettering and, it is expected, in the care of patients throughout the United States. According to the Leukemia and Lymphoma Society, an estimated 1.1 million people in the nation are currently living with, or in remission from, leukemia, lymphoma, and myeloma, and an estimated combined total of more than 148,000 will be diagnosed with one of these diseases in 2013.

“Our hope is that this test becomes available to all patients in the country with these malignancies,” Dr. Levine says. “We were particularly excited that we weren’t just developing a tool for the relatively small number of people who are treated at our institution, but providing access to state-of-the-art cancer genomics more broadly.”

The diagnostic test was developed and validated using more than 400 samples from Memorial Sloan Kettering patients with the three blood disorders. Dr. Levine explains that it is far more comprehensive than existing tests, which focus on a small number of genetic mutations associated with specific blood cancer types. The new test analyzes more than 400 cancer-related genes, and unlike most standard tests, it looks for alterations in both DNA and RNA.

Sequencing RNA along with DNA is especially useful in the detection of certain kinds of genetic alterations that commonly occur in blood cancers. These include translocations (which occur when pieces of DNA are exchanged between two chromosomes) and fusion genes (new genes that include parts of two different genes). In addition to improving the treatment of patients, Memorial Sloan Kettering will use information gleaned from the test to further advance research into blood cancers.

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Clinically Relevant Mutations

Dr. Levine explains that Memorial Sloan Kettering researchers worked with Massachusetts-based Foundation Medicine to annotate, or define, every gene in the panel to correlate it with clinical data and to provide insight into how this information can be used to guide clinical decision making.

“What’s vital about the test is that it’s not just reporting the presence of specific alterations but also indicating how a particular genetic event detected in a patient can guide either prognosis or therapy,” he says. “We identified clinically relevant mutations that were not found using standard tests. These mutations are ‘actionable,’ meaning that targeting them can change the course of the disease, including directing patients to innovative clinical trials.”

Initially, the goal for the test is to produce the full genetic profile from a patient sample within three to four weeks. “With the exception of someone who has very acute leukemia that requires immediate treatment decisions, this test is going to be valuable in clinical care,” Dr. Levine says.

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I am 75 yrs old, diagnosed w/marginal zone lymphoma 12 yrs ago. Spleen removed 8 yrs ago. No treatment yet; however my doctor at Baylor Onocology in Dallas discusses it w/me every time I go in for labs every 3 months. I have no other health issues and take no meds. I am slightly anemic, white count 110,000.
Is there something for me w/ur diagnostic test so far as treatment?

Mary, unfortunately we are unable to answer specific medical questions on our blog. If you would like to make an appointment with a Memorial Sloan-Kettering physician, please call our Physician Referral Service at
800-525-2225 or go to
Thanks for your comment.

I am a CLL patient with 17p deletion. Can this test detect even more refined information?

Linda, thank you for your comment. We consulted with Dr. Levine, and he responds:

The new test offered by Foundation Medicine in collaboration with MSKCC can detect many additional genetic changes in CLL and in other blood cancers. Please discuss with your doctor whether this test will be useful for you in deciding how best to treat your disease.

What is the name of your new genetic test? I'm due to come to MSKCC soon for a myeloma diagnostic workup with Dr Landgren. Does this test indicate the markers for determining high risk SM? Would it be standard or need I request it, and by what name?

Susan, you can speak with your physician about the test, called FoundationOne Heme, which is becoming standard for all myeloma patients diagnosed at MSK. Thank you for your comment.

I have very aggressive nodal marginal zone lymphoma- asymptomatic in May with only slightly elevated WBC and lymphocytes, by September multiple moderate and large cervical, axillary, supraclavicular, and chest, abdominal and pelvic lymph nodes along with greater than 50% bone marrow involvement, The lymphoma is also CD38 +.

As far as I know, no genetic prognostic or treatment indicators have yet been identified for NMZL, but if there are some, please let me know if you think it might be worth a visit.

My first cousin has a treatment-resistant form of CLL. He refuses dna testing. Another more distant cousin has just died of b cell lymphoma. There exists a formalin-preserved lymph node biopsy from this more-distant cousin. Would you be interested in doing genetic studies on the lymph node biopsy, in the hopes of identifying a possibly important mutation in this family?

Thank you for reaching out. The Clinical Genetics Program at MSK has a longstanding interest in studying families with an increased incidence of cancer and in helping to advise families with potential clinical implications.  If the family would like to pursue evaluation for research (or clinical benefit, please contact them.…

My son is 4 years old, and on 11.22.2014 he was diagnosed with acute lymphoblastic leukemia, tranlocação he has t (12; 21) (p13; q22): immunophenotyping 56% blasts -Cd9 + CD10 ++ Cd11b- CD19 + CD20- Cd13- CD15- CD22- CD25- CD38 + CD33- / CD58 + CD65- cigM ++ + + NG2- TdT without expression of light chains. Cont. DNA of pop.pat. DNA index: 1.94. Ploidy Dna: hyperdiploid (TETRADIPLOIDE).
Karyotype Fish: a bone marrow features in 88% of the analyzed cells, fusion ETV6 / RUNX1. No structural rearrangements were detected KMT2A gene (alias MLL) localixado at 11q23, it has been observed 3 copies of ETV6 / RUNX1 gene in 79% of cells.
Molecular genetics: the presence of the fusion RNA ETV6 / RUNX1 (TEL / AML1) has been detected. It was not detected the presence of BCR-ABL1 fusion RNA, MLL / AFF1 (MLL-AF4) or Tcf3-PBX1 (E2A-PBX1).
Result ; the patient has a corresponding rearrangement of the fusion gene ETV6 / RUNX1. This rearrangement results from the translocation t (12; 21) (p13; q22) and is associated with good prognosis in all.
DRM Negative,
Miolograma held on 30/13/2014 remission, had no disease.
My son is undergoing maintenance until February 2017.
The doctor told me that the gene that my son has is the relapse gene, I'm asking as doctor confirmed what was said to me possible, the doctors here speak little and little to tell us nothing. I read a lot and I suffer a lot from what happened to my son. I would like to know if you have immunotherapy in case he fall.

Carla, we are sorry to hear about your son’s diagnosis. Memorial Sloan Kettering does have a clinical trial testing immunotherapy for pediatric patients with ALL. You can find out more information about eligibility and whom to contact here:

You can find out about making an appointment with a Memorial Sloan Kettering Physician here:

Hello I have a relative recently dx with CML.
She is doing well on Gleevec her blood counts are normal . I was wondering if MSKCC will be having any discussions/lectures on this topic I am a nurse

Mary, thank you for your interest in MSK. To keep up to date on our events, you can go to and search on the topic or topics you are interested in.

Do you have access to Watson at MSK? How would a patient wishing a more complete diagnosis with this tool but not in your area arrange such a test?

Dear Terry, the Watson Genomics/Quest Diagnostic test (known as OncoVantage) is a multiplex panel that allows physicians to choose the most appropriate therapy for their patients based on the alterations found in the individual’s tumor sample DNA. Your physician may order that test directly through Quest:

If you are referring to Watson for Oncology, your physician may request a demo through the IBM website: .

Thank you for reaching out to us.

Hi, is genomic testing available for (recurrent) Stage 4 Metastatic Breast Cancer (ER+/HER2+)? M first cancer was ER+/HER2-, and I'm BRCA2.

My son has refractory Classic hodgkins lymphoma and has had the traditional chemo with radiation to start with, followed by radiation and then brentuximab and then nivolumab and then 4 clinical trials (including CTL and CAR-T cells and a couple others). We're trying to beat this so that he can get an allogenic transplant. I'm wondering if your sequencing work has anything targeted to CHL? if so, what would be the process to do a comparison and how can our doctor get in touch with you regarding that?