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Targeted massively parallel sequencing in the management of cytogenetically normal lymphoid malignancies
Emine Ikbal Atli1, Hakan Gurkan, Engin Atli
1Faculty of Medicine, Department of Medical Genetics, Edirne, Trakya University, Edirne, Turkey.
Abstract:
The variations in clinical and biological background of lymphoid malignancies trigger researchers to try to find out novel therapeutic targets. A typical treatment includes multiagent chemotherapy and/or targeted therapy in the light of driver mutations. Next generation sequencing (NGS) plays a pivotal role during the identification of genetic alterations in lymphoid malignancies. A total of 52 patients [30 men (58%) and 22 women (42%)] having normal cytogenetic and FISH results were enrolled in this study. Usage of NGS based targeted sequencing could confirm or support a particularly preferred diagnosis (41/52, 78%) or make a differential diagnosis in cases of interference. Notably, in 11 out of these 52 cases (21%), the initial suspect diagnosis was not supported by the NGS result and thereby had to be reconsidered. In this study, we highlight the importance of targeted NGS panel testing for diagnosis, prognosis and treatment decision in highly selected instances of lymphoid malignancies and lymphoproliferative disorders in which histopathology and more conventional molecular analyses remain inconclusive.
Insights
Next-generation sequencing (NGS) aids in diagnosing lymphoid malignancies when standard tests are inconclusive. This targeted NGS panel testing improves diagnostic accuracy and guides treatment decisions for these complex blood cancers.
Area of Science:
- Hematology
- Oncology
- Molecular Diagnostics
Background:
- Lymphoid malignancies exhibit diverse clinical and biological features, necessitating novel therapeutic targets.
- Current treatments involve chemotherapy and targeted therapies based on identified driver mutations.
- Next-generation sequencing (NGS) is crucial for detecting genetic alterations in these cancers.
Purpose of the Study:
- To evaluate the utility of targeted NGS panel testing in diagnosing lymphoid malignancies and lymphoproliferative disorders.
- To assess the impact of NGS on confirming or refining diagnoses when conventional methods are inconclusive.
- To highlight the role of NGS in guiding prognosis and treatment decisions for selected cases.
Main Methods:
- Targeted sequencing using NGS was performed on 52 patients with lymphoid malignancies and normal cytogenetic/FISH results.
- Diagnostic outcomes were compared between initial clinical suspicion and NGS findings.
- Analysis focused on cases where histopathology and conventional molecular analyses were inconclusive.
Main Results:
- NGS confirmed or supported the initial diagnosis in 78% (41/52) of patients.
- In 21% (11/52) of cases, NGS results led to a reconsideration of the initial diagnosis.
- Targeted NGS provided crucial differential diagnoses in complex or interfering cases.
Conclusions:
- Targeted NGS panel testing is highly valuable for precise diagnosis of lymphoid malignancies and lymphoproliferative disorders.
- NGS significantly aids in refining diagnoses, especially when histopathology and conventional molecular tests are inconclusive.
- The study underscores the importance of NGS in informing prognosis and personalized treatment strategies.
