Diagnostic Accuracy Can Be Enhanced with Genomic Profile and Immunophenotyping


At Memorial Sloan Kettering Cancer Center (MSK), lymphoma diagnosis is provided by ten board-certified hematopathologists, all of whom have diverse clinical and laboratory expertise. Our hematopathologists are supported by state-of-the-art laboratories that perform immunophenotyping and genetic testing.

Diagnosing Lymphoma

The diagnosis of lymphoma is among the most challenging cancer diagnoses. Many lymphomas mimic benign inflammatory conditions, and without sophisticated laboratory methods, the malignant nature of the proliferation may not be established. Our practice uses histological examination, immunohistochemistry, flow cytometry (Figure 1A) and various genetic technologies (Figure 1B) to establish a diagnosis of lymphoma.


Figure 1.  A) Flow cytometric immunophenotyping identifies subtle involvement by lymphoma (purple cells) in a background of benign cells (red and blue cells). B): FISH is one of the laboratory methods we use for accurate classification of lymphoma. Here, a genetic alteration called a translocation is identified using two different color probes (green and red). When two probes come together, they produce a yellow color indicating the presence of the translocation.

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Once a diagnosis of lymphoma is established, the next challenge is accurate classification. The current World Institute of Health (WHO) classification recognizes more than 60 different entities. Each of these entities has unique clinical and pathological features and may require customized therapy. Therefore, accurate classification is of great importance. MSK has a wealth of experience in this area and can provide an accurate classification even in most challenging circumstances. Our faculty has helped develop many of the diagnostic approaches for lymphoma used by pathologists all over the world.

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The Use of Biomarkers

Once the diagnosis and classification of the lymphoma are established, we perform tests for biomarkers that could predict the response of the tumor to a specific therapy, or to identify a target for a novel agent (Figure 2). This area is emerging as one of the most important aspects of lymphoma treatment, and MSK is working to introduce new technologies for the comprehensive phenotyping of lymphoma samples by mass spectrometry proteomics, and comprehensive genomic profiling using next-generation sequencing technologies. These new approaches will help us not only to accurately diagnose lymphoma but also to identify the best personalized treatment for each patient.

Scientific photo

Figure 2.  Ki67, expressed by this lymphoma, is a biomarker that can predict aggressive clinical behavior.  MYC is an oncogene associated with adverse outcome, but also represents a therapy target. MSK has designed a clinical trial to target MYC deregulation.


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