Title: Quality Assurance Guided FISH-Analysis for Optimal Detection of AML-Associated Chromosomal Aberrations
Authors: Dina Adel Fouad Mohamed, Nevine Nabil Mostafa, Yasmin Nabil Salem, Mona Fathey Abdel Fattah
DOI: https://dx.doi.org/10.18535/jmscr/v5i1.51
Abstract
References
Background: Fluorescence in situ hybridization (FISH) provides an important adjunct to molecular studies in the evaluation of chromosomal abnormalities in acute myeloid leukemia (AML), and is integral for diagnosis, prognosis and risk stratification according to professional clinical guidelines and WHO recent updates in 2016. The response of patients with AML to therapeutic modalities has been shown to be highly dependent upon disease characteristic and cytogenetic profile present at the time of diagnosis. This work aimed to detect specific chromosomal aberrations in AML patients, according to cytogenetic standards and professional quality assurance guidelines of clinical cytogenetics, by using Fluorescence in situ Hybridization (FISH) and assess their relation with other prognostic factors and therapeutic response.
Patients and Methods: FISH technique was used to detect t(8;21) (q22;q22), t(15;17) (q22;q12), t(9;22) (q34;q11), inv(16) (p13.1q22), 11q23 rearrangements, 17q rearrangements, inv(3q26), del 5q31, monosomy 5, del 7q31 and monosomy7 in 41 newly diagnosed adult AML patients.
Results and Conclusion: Application of FISH probes according to quality assurance guidelines ensures reliable chromosomal analysis with consistent interpretation of findings, including typical and atypical abnormal results in AML patients. Statistical analysis of patients‘ outcome with prognostic markers among newly diagnosed patients revealed significant association of poor therapeutic response to therapy with high TLC, and positive FISH analysis for 3q26 (EVI1) rearrangement, 11q23(MLL) rearrangements, t(9;22) (BCR/ABL) and monosomy 7.
Keywords: AML, FISH, cytogenetic guidelines, quality assurance.
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