The need for comprehensive testing seems obvious in the context of working up most cases of hematologic malignancies. However, there is still a perception gap amongst oncology providers of what is considered “comprehensive.” For many hematologic malignancies, such as MDS, CLL and AML for example, we are long passed the days of traditional diagnostic testing being sufficient to render an accurate diagnosis or prognosis. Clinicians are demanding more sophisticated ways to classify disease, risk stratify and identify predictive markers that link to specific targeted therapies, all to advance the oncology care of patients. As this landscape expands, next generation sequencing (NGS)- which is required for this advancement- is rarely incorporated in an upfront diagnostic routine.
Next generation sequencing is an empowering technology to look into the genetics and possibly identify the driver mutations for therapeutic selections. NGS is a complementary tool and in fact, a necessary tool, to standard diagnostic methods such as flow cytometry, morphology, FISH and cytogenetics as we learn more about tumor profiling. In the setting of early MDS, it has been shown that over 80% of cases have no defining evidence of clonality by traditional diagnostic methods1. While, on the contrary, nearly 80% of MDS patients carry at least one oncogenic mutation and in fact, two-thirds of these individuals have normal cytogenetics2. In the case of CLL, TP53 mutations detected by NGS are found in approximately 30% of patients without del(17p)3. Finally, in the context of primary AML, molecular analysis combined with cytogenetics is an established integrated risk classification tool and now with the advent of multiple targeted therapies for AML, it is critical to identify mutations for possible targeted therapies.
We are advocates for complete and comprehensive testing for complex hematologic malignancies which includes incorporating NGS, when medically necessary, into our diagnostic workup. We welcome you to learn more by visiting https://neogenomics.com/compass.
- Malcovati L, Hellström-Lindberg E, Bowen D, et al. Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet. Blood. 2013;122:2943-2964.
- Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of diver mutations in myelodysplastic syndromes. Blood. 2013 Nov 21;122(22):3616-3627.
- Rossi D, Gaidano G. The clinical implications of gene mutations in chronic lymphocytic leukemia. British Journal of Cancer. 2016 (114):849-854.