1Faculty of Medicine, Department of Medical Genetics, Edirne, Trakya University, Edirne, Turkey.
2 Faculty of Medicine, Department of Hematology, Trakya University, Edirne, Turkey.
3 Faculty of Medicine, Department of Medical Genetics, Near East University, Nicosia, Cyprus.
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diagnostic methods give an advantage for the identification of
abnormalities in myeloid malignancies. Various researchers have shown
the potential importance of genetic tests before the disease's onset
and in remission. Large testing panels prevent false-negative results
in myeloid malignancies. However, the critical question is how the
results of conventional cytogenetic and molecular cytogenetic
techniques can be merged with NGS technologies. In this paper, we drew
an algorithm for the evaluation of myeloid malignancies. To evaluate
genetic abnormalities, we performed cytogenetics, molecular
cytogenetics, and NGS testing in myeloid malignancies. In this study,
we analyzed 100 patients admitted to the Medical Genetics Laboratory
with different myeloid malignancies. We highlighted the possible
diagnostic algorithm for cytogenetically normal cases. We applied NGS
141 gene panel for cytogenetically normal patients, and we detected two
or more pathogenic variations in 61 out of 100 patients (61%). NGS's
pathogenic variation detection rate varies in disease groups: they were
present in 85% of A.M.L. and 23% of M.D.S. Here, we identified 24 novel
variations out of total pathogenic variations in myeloid malignancies.
A total of 18 novel variations were identified in A.M.L., and 6 novel
variations were identified in M.D.S. Despite long turnaround times,
conventional techniques are still a golden standard for myeloid
malignancies but sometimes cryptic gene fusions or complex
abnormalities cannot be easily identified by conventional techniques.
In these conditions, advanced technologies like NGS are highly
Materials and Methods
|Table 2. WHO classification of our cohort and results of genetic analysis.|
|Figure 1. Mechanism of unique molecular indices (U.M.I.s).|
|Table 1. The list of covered genes and related diseases in NGS panel.|
|Table 3. The list of identified mutations and their distributions of diseases. Novel mutations have been shown in table as a red labeled. Green color demonstrates the VOUS, pink color demonstrates the likely pathogenic mutations and red color demonstrates the pathogenic mutations.|
|Figure 2. Suggested algorithm for cytogenetically normal cases.|