Next generation sequencing guided treatment modulation and prognosis in Acute myeloid leukemia: Case vignettes.
Year: 2020
Type: article
Study design: Case Report
Abstract: OBJECTIVE: The genomic mutational landscape of Acute Myeloid Leukemia has contributed to better treatment options, risk stratification and prognostication of this genetically heterogeneous disease. With several approved new drugs targeting specific mutations with better outcomes, we describe here two cases of AML in which, NPM1 was detected at diagnosis. The impact of age, type of treatment, stability of NPM1 mutation, and co-occurring mutations on survival are the essential parameters for investigation. METHOD: Both the cases of AML were females, >60 years of age with normal 46XX karyotype. Allele specific RT-PCR and fragment analysis was performed for the detection of NPM1-A mutation at diagnosis. Both the patients were unfit for intensive chemotherapy therefore reduced intensity induction chemotherapy regimen was initially administered. Next-generation sequencing was performed for comprehensive mutational profiling, which guided targeted treatment, prognostic stratification, and response assessment. RESULT: mutation served as a therapeutic target. The FLT3 inhibitor used in combination with standard therapy showed promising results in this case. CONCLUSION: Here, we emphasize on the utility of next generation sequencing in guiding the treatment initiation or modulation during the disease course and risk stratification in AML. In conclusion, conventional chemotherapy in AML gives very poor overall survival rates and targeted chemotherapy against specific mutations may drastically improve patient survival and treatment outcomes.
Source: PubMed Central
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W3085010376